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1.
Clin Transl Radiat Oncol ; 45: 100753, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38433951

RESUMO

Background: Pancreatic Stereotactic Body Radiotherapy (SBRT) allows for the administration of a higher biologically effective doses (BED), that would be essential to achieve durable tumor control. Escalating treatment doses need a very accurate tumor positioning and motion control during radiotherapy.The aim of this study to assess the feasibility and safety of a Simultaneous Integrated Boost (SIB) dose-escalated protocol at 45 Gy, 50 Gy and 55 Gy in 5 consecutive daily fractions, in Border Line Resectable Pancreatic Cancer (BRCP) /Locally Advanced Pancreatic Cancer (LAPC) by means of a standard LINAC platform. Methods: Patients diagnosed of BRPC/LAPC, candidates for neoadjuvant chemotherapy and SBRT, in four university hospitals of the province of Las Palmas (Canary Islands, Spain) were included in this prospective study. Radiotherapy was administered using standard technology (LINACS) with advanced positioning (Lipiodol® and metallic stent used as fiducial markers) and tumor motion control (4D, DBH, Calypso®). There were 3 planned dose-escalated SIB groups, 45 Gy/5f (9 patients) 50 Gy/5f (9 + 9 patients) and 55 Gy/5f (9 patients). The defined primary end points of the study were the safety and feasibility of the proposed treatment protocol. Secondary endpoints included radiological tumor response after SBRT, local control and survival. Results: From June 2017 to December 2022, sixty-two patients were initially assessed for eligibility in the study in the four participating centers, and 49 were candidates for chemotherapy (CHT). Forty-one were referred to radiotherapy after CHT and 33 finally were treated by escalated-dose SIB, 45 Gy (9 patients) 50 Gy (16 patients), 55 Gy(8 patients). All patients completed the scheduled treatment and no acute or late severe (≥grade3) gastrointestinal toxicity was observed.Local response was analyzed by CT/MRI two months after the end of SBRT. Ten patients (31,25 %) achieved objective response (2/9:45 Gy, 5/15:50 Gy, 3/8:55 Gy). Follow-up was closed as July 2023. Freedom from local progression at 1-2y were 89,3% (95 %CI:83,4-95,2%) and 66 % (95 %CI:54,6-77,4%) respectively. The 1-2y survival rates were 95,7% (95 %CI:91,4-100 % and 48,6% (95 %CI:37,7-59,5%) respectively. Conclusion: These promising results should be confirmed by further studies with larger sample size and extended follow-up period.

2.
J Fr Ophtalmol ; 47(3): 104006, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37925324
3.
Acta ortop. mex ; 33(3): 146-149, may.-jun. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1248652

RESUMO

Resumen: Las lesiones por el colapso escafosemilunar avanzado y el colapso avanzado por seudoartrosis del escafoides son consecuencia de un traumatismo que origina la fractura de escafoides y la consecuente seudoartrosis, resultando en una cinemática anormal de la muñeca y en una lesión de ligamento escafosemilunar, respectivamente. Las opciones quirúrgicas actuales para el tratamiento incluyen artrodesis parcial y carpectomía de la línea proximal del carpo. Material y métodos: Estudio retrospectivo, transversal y descriptivo en el período comprendido de Enero de 2010 a Diciembre de 2015. Se estudiaron 52 pacientes operados con artrodesis de cuatro esquinas y 19 pacientes manejados con carpectomía. Resultados: Del total de 71 pacientes, 62 fueron masculinos y nueve femeninos. Para el procedimiento de carpectomías, fueron 14 varones y cinco mujeres, para los pacientes con artrodesis de cuatro esquinas se incluyeron 48 masculinos y cuatro femeninos. Se identificaron 48 pacientes con colapso avanzado por seudoartrosis del escafoides y 23 pacientes con colapso escafosemilunar avanzado. Se realizaron 19 carpectomías y 52 artrodesis de cuatro esquinas del total de pacientes, 65 de ellos cursaron sin ninguna complicación, tres pacientes con retardo de la consolidación, dos con dolor residual, y uno con proceso infeccioso superficial. Discusión: La técnica de artrodesis de cuatro esquinas implica mayor tiempo de cirugía y de costos en relación con la carpectomía; sin embargo, la artrodesis tiene una reincorporación más rápida al trabajo con mejoría del dolor con respecto a la carpectomía; la decisión final en nuestra institución dependerá del caso y de la actividad del paciente.


Abstract: Advanced scafosemilunar collapse (SLAC) and advanced scaphoid pseudoarthrosis (SNAC) collapse are the result of trauma causing scaphoid fracture and the consequent pseudoarthrosis resulting in abnormal kinematics of the wrist and a scapholunate ligament injury, respectively. Current surgical options for SLAC/SNAC treatment include partial arthrodesis, carpal proximal row resection. Material and methods: Retrospective, cross-cutting and descriptive study was carried out in the period from January 2010 to December 2015. 52 patients operated on with 4-cornered arthrodesis and 19 patients with carpectomy were studied. Results: 71 patients, 62 male patients and 9 female patients were analysed. For the carpectomy procedure were 5 female patients, for patients with four-corner arthrodesis 48 male patient and 4 female patient were included. 48 patients with SNAC and 23 patients with SLAC were identified. 19 carpectomies and 52 arthrodesis of four corners of the total patients 65 of them were carried without any complications, 3 patients with delay of consolidation two with residual pain, and one with superficial infectious process. Discussion: The four-corner arthrodesis technique involves longer surgery and costs in relation to carpectomy, however arthrodesis has a faster return to pain-improvement work with respect to carpectomy; the final decision will depend on the case, the patient's activity.


Assuntos
Humanos , Masculino , Feminino , Artrodese/métodos , Ossos do Carpo , Osso Escafoide/lesões , Fraturas Ósseas/cirurgia , Fraturas Ósseas/complicações , Estudos Retrospectivos , Amplitude de Movimento Articular , Resultado do Tratamento
4.
Neurología (Barc., Ed. impr.) ; 34(4): 224-228, mayo 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-180811

RESUMO

Introducción: La epilepsia ausencia infantil (EAI) se considera una forma de epilepsia de fácil control farmacológico solo si se emplean criterios estrictos para la clasificación de los pacientes. Supone el 10% de las epilepsias infantiles de inicio antes de los 15 años y es más frecuente en niñas escolares. El objetivo es conocer la evolución a largo plazo de los pacientes atendidos en la etapa infantil con EAI empleando los criterios de Loiseau y Panayiotopoulos Métodos: Estudio retrospectivo de 69 pacientes con EAI con edad actual mayor de 11 años, realizado mediante revisión de historias clínicas, EEG y cuestionario telefónico. Resultados: Cumplieron los criterios de Loiseau y Panayiotopoulos 52 pacientes, edad actual media 17,61 años. Relación mujeres/hombres: 1,65/1; edad de inicio media: 6 años y 2 meses; duración total de tratamiento media: 3 años y 9 meses; antecedentes familiares de epilepsia: 30,8%; antecedentes personales de crisis febriles: 7,7%; tipo de ausencias: simples 73,5%, complejas: 26,5%; respuesta al primer tratamiento: ácido valproico 46,3% o ácido valproico con etosuximida simultáneos 90,9%; respuesta al segundo tratamiento (etosuximida o lamotrigina) 84,2%; crisis tras supresión de tratamiento: 4%; pacientes en remisión terminal: 78,8%; necesidad de apoyo psicopedagógico: 25%. Conclusiones: Nuestros datos muestran la utilidad de clasificar a los pacientes utilizando criterios estrictos ya que el pronóstico de las crisis del síndrome de EAI puro es excelente. Encontramos que la tasa de recaídas ha sido muy baja. A pesar del favorable pronóstico en cuanto al control de crisis necesitan apoyos psicopedagógicos en un alto porcentaje


Introduction: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. Methods: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. Results: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. Conclusions: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Epilepsia Tipo Ausência/epidemiologia , Ácido Valproico/uso terapêutico , Anticonvulsivantes/uso terapêutico , Etossuximida/uso terapêutico , Epilepsia Tipo Ausência/tratamento farmacológico , Estudos Retrospectivos , Assistência de Longa Duração/estatística & dados numéricos , Epilepsia Generalizada/epidemiologia
5.
Acta Ortop Mex ; 33(3): 146-149, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-32246604

RESUMO

Advanced scafosemilunar collapse (SLAC) and advanced scaphoid pseudoarthrosis (SNAC) collapse are the result of trauma causing scaphoid fracture and the consequent pseudoarthrosis resulting in abnormal kinematics of the wrist and a scapholunate ligament injury, respectively. Current surgical options for SLAC/SNAC treatment include partial arthrodesis, carpal proximal row resection. MATERIAL AND METHODS: Retrospective, cross-cutting and descriptive study was carried out in the period from January 2010 to December 2015. 52 patients operated on with 4-cornered arthrodesis and 19 patients with carpectomy were studied. RESULTS: 71 patients, 62 male patients and 9 female patients were analysed. For the carpectomy procedure were 5 female patients, for patients with four-corner arthrodesis 48 male patient and 4 female patient were included. 48 patients with SNAC and 23 patients with SLAC were identified. 19 carpectomies and 52 arthrodesis of four corners of the total patients 65 of them were carried without any complications, 3 patients with delay of consolidation two with residual pain, and one with superficial infectious process. DISCUSSION: The four-corner arthrodesis technique involves longer surgery and costs in relation to carpectomy, however arthrodesis has a faster return to pain-improvement work with respect to carpectomy; the final decision will depend on the case, the patients activity.


Las lesiones por el colapso escafosemilunar avanzado y el colapso avanzado por seudoartrosis del escafoides son consecuencia de un traumatismo que origina la fractura de escafoides y la consecuente seudoartrosis, resultando en una cinemática anormal de la muñeca y en una lesión de ligamento escafosemilunar, respectivamente. Las opciones quirúrgicas actuales para el tratamiento incluyen artrodesis parcial y carpectomía de la línea proximal del carpo. Material y métodos: Estudio retrospectivo, transversal y descriptivo en el período comprendido de Enero de 2010 a Diciembre de 2015. Se estudiaron 52 pacientes operados con artrodesis de cuatro esquinas y 19 pacientes manejados con carpectomía. Resultados: Del total de 71 pacientes, 62 fueron masculinos y nueve femeninos. Para el procedimiento de carpectomías, fueron 14 varones y cinco mujeres, para los pacientes con artrodesis de cuatro esquinas se incluyeron 48 masculinos y cuatro femeninos. Se identificaron 48 pacientes con colapso avanzado por seudoartrosis del escafoides y 23 pacientes con colapso escafosemilunar avanzado. Se realizaron 19 carpectomías y 52 artrodesis de cuatro esquinas del total de pacientes, 65 de ellos cursaron sin ninguna complicación, tres pacientes con retardo de la consolidación, dos con dolor residual, y uno con proceso infeccioso superficial. Discusión: La técnica de artrodesis de cuatro esquinas implica mayor tiempo de cirugía y de costos en relación con la carpectomía; sin embargo, la artrodesis tiene una reincorporación más rápida al trabajo con mejoría del dolor con respecto a la carpectomía; la decisión final en nuestra institución dependerá del caso y de la actividad del paciente.


Assuntos
Artrodese , Ossos do Carpo , Fraturas Ósseas , Osso Escafoide , Artrodese/métodos , Feminino , Fraturas Ósseas/complicações , Fraturas Ósseas/cirurgia , Humanos , Masculino , Amplitude de Movimento Articular , Estudos Retrospectivos , Osso Escafoide/lesões , Resultado do Tratamento
6.
Neurologia (Engl Ed) ; 34(4): 224-228, 2019 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28325560

RESUMO

INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. RESULTS: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. CONCLUSIONS: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary.


Assuntos
Epilepsia Tipo Ausência/diagnóstico , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Progressão da Doença , Epilepsia Tipo Ausência/tratamento farmacológico , Etossuximida/uso terapêutico , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento , Ácido Valproico/uso terapêutico
7.
Rev Neurol ; 66(s02): S7-S16, 2018 06 05.
Artigo em Espanhol | MEDLINE | ID: mdl-29876906

RESUMO

Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient. The latter concerns the paediatric specialist, who created ties of dependence with the patient due to the difficulties involved in the process, and perhaps even owing to a wish to avoid playing a less important role in it. Delaying the transition gives rise to problems that are detrimental for the child, because after adolescence there will still be a harmful dependence on the family and the paediatrician, which will delay the necessary knowledge of their own illness and of the limitations that can condition them. As a result this can prevent them from developing mechanisms for coming to terms with the reality of their own life situation. Later on, when it comes to taking the necessary step into adult medicine, immaturity appears, which increases the difficulties due to a lack of knowledge of both the disease and the tell-tale signs of alarm, revealing insecurity in the different situations that arise. The problem can be solved by a slow progressive change which must be coordinated in mixed outpatient departments with the presence of specialists for both paediatric and adult patients. This publication offers an analysis of this problem and a review of the solutions recommended to implement them in the best possible way.


TITLE: Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.La atencion pediatrica de un proceso cronico se ve limitada por el momento a partir del cual el seguimiento clinico y terapeutico debe continuarlo el especialista del area con dedicacion al adulto. El retraso de la transicion de la pediatria a la medicina del adulto puede originarse por causas familiares o del paciente, o bien por el profesional que diagnostico la enfermedad. La primera emana de la incertidumbre ante lo desconocido, mas intensa cuanto mayor ha sido la dificultad diagnostica y terapeutica, al temer que el paciente se desestabilice. La segunda atañe al especialista pediatrico, que creo lazos de dependencia con el paciente por las dificultades del proceso, e incluso por el deseo de no perder protagonismo en el mismo. Demorar la transicion genera problemas perjudiciales para el niño, pues superada la adolescencia mantendra una nociva dependencia familiar y del pediatra, retrasando el necesario conocimiento de la propia enfermedad y de las limitaciones que pueden condicionarle, e impidiendole desarrollar mecanismos para enfrentarse a su realidad vital. Mas adelante, cuando llega el necesario paso a la medicina del adulto, aflora la inmadurez, que incrementa las dificultades por desconocer tanto la enfermedad como los signos de alarma, revelando inseguridad en las situaciones que vayan apareciendo. El problema se soluciona con un cambio lento y progresivo, que debe coordinarse en consultas mixtas atendidas por especialistas pediatricos y de adultos. En esta publicacion se analiza esta problematica y se revisan las soluciones aconsejadas para su mejor desarrollo.


Assuntos
Epilepsia/terapia , Transição para Assistência do Adulto , Adulto , Criança , Humanos , Fatores de Tempo , Transição para Assistência do Adulto/organização & administração , Transição para Assistência do Adulto/normas
8.
Mol Psychiatry ; 23(5): 1233-1243, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-28322273

RESUMO

Numerous genetic and functional studies implicate variants of Neuregulin-1 (NRG1) and its neuronal receptor ErbB4 in schizophrenia and many of its endophenotypes. Although the neurophysiological and behavioral phenotypes of NRG1 mutant mice have been investigated extensively, practically nothing is known about the function of NRG2, the closest NRG1 homolog. We found that NRG2 expression in the adult rodent brain does not overlap with NRG1 and is more extensive than originally reported, including expression in the striatum and medial prefrontal cortex (mPFC), and therefore generated NRG2 knockout mice (KO) to study its function. NRG2 KOs have higher extracellular dopamine levels in the dorsal striatum but lower levels in the mPFC; a pattern with similarities to dopamine dysbalance in schizophrenia. Like ErbB4 KO mice, NRG2 KOs performed abnormally in a battery of behavioral tasks relevant to psychiatric disorders. NRG2 KOs exhibit hyperactivity in a novelty-induced open field, deficits in prepulse inhibition, hypersensitivity to amphetamine, antisocial behaviors, reduced anxiety-like behavior in the elevated plus maze and deficits in the T-maze alteration reward test-a task dependent on hippocampal and mPFC function. Acute administration of clozapine rapidly increased extracellular dopamine levels in the mPFC and improved alternation T-maze performance. Similar to mice treated chronically with N-methyl-d-aspartate receptor (NMDAR) antagonists, we demonstrate that NMDAR synaptic currents in NRG2 KOs are augmented at hippocampal glutamatergic synapses and are more sensitive to ifenprodil, indicating an increased contribution of GluN2B-containing NMDARs. Our findings reveal a novel role for NRG2 in the modulation of behaviors with relevance to psychiatric disorders.


Assuntos
Dopamina/metabolismo , Transtornos Mentais/metabolismo , Fatores de Crescimento Neural/deficiência , Animais , Comportamento Animal/fisiologia , Encéfalo/metabolismo , Clozapina/farmacologia , Dopamina/genética , Receptores ErbB/metabolismo , Masculino , Transtornos Mentais/genética , Camundongos , Camundongos Knockout , Fatores de Crescimento Neural/genética , Fatores de Crescimento Neural/metabolismo , Neuregulina-1/genética , Neuregulina-1/metabolismo , Receptor ErbB-4/genética , Receptor ErbB-4/metabolismo , Transdução de Sinais , Sinapses/metabolismo , Transcriptoma
9.
J Comp Neurol ; 525(10): 2358-2375, 2017 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-28316078

RESUMO

Taste buds contain multiple cell types with each type expressing receptors and transduction components for a subset of taste qualities. The sour sensing cells, Type III cells, release serotonin (5-HT) in response to the presence of sour (acidic) tastants and this released 5-HT activates 5-HT3 receptors on the gustatory nerves. We show here, using 5-HT3A GFP mice, that 5-HT3 -expressing nerve fibers preferentially contact and receive synaptic contact from Type III taste cells. Further, these 5-HT3 -expressing nerve fibers terminate in a restricted central-lateral portion of the nucleus of the solitary tract (nTS)-the same area that shows increased c-Fos expression upon presentation of a sour tastant (30 mM citric acid). This acid stimulation also evokes c-Fos in the laterally adjacent mediodorsal spinal trigeminal nucleus (DMSp5), but this trigeminal activation is not associated with the presence of 5-HT3 -expressing nerve fibers as it is in the nTS. Rather, the neuronal activation in the trigeminal complex likely is attributable to direct depolarization of acid-sensitive trigeminal nerve fibers, for example, polymodal nociceptors, rather than through taste buds. Taken together, these findings suggest that transmission of sour taste information involves communication between Type III taste cells and 5-HT3 -expressing afferent nerve fibers that project to a restricted portion of the nTS consistent with a crude mapping of taste quality information in the primary gustatory nucleus.


Assuntos
Proteínas de Fluorescência Verde/biossíntese , Fibras Nervosas/metabolismo , Neurônios Aferentes/metabolismo , Receptores 5-HT3 de Serotonina/biossíntese , Papilas Gustativas/metabolismo , Paladar/fisiologia , Animais , Feminino , Proteínas de Fluorescência Verde/análise , Masculino , Camundongos , Camundongos Transgênicos , Fibras Nervosas/química , Fibras Nervosas/ultraestrutura , Vias Neurais/química , Vias Neurais/metabolismo , Vias Neurais/ultraestrutura , Neurônios Aferentes/química , Neurônios Aferentes/ultraestrutura , Receptores 5-HT3 de Serotonina/análise , Receptores 5-HT3 de Serotonina/ultraestrutura , Núcleo Solitário/química , Núcleo Solitário/metabolismo , Núcleo Solitário/ultraestrutura , Papilas Gustativas/química , Papilas Gustativas/ultraestrutura
10.
Talanta ; 165: 533-539, 2017 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-28153295

RESUMO

This study analyses the presence of pesticides in 106 samples of raw propolis from Spain and Chile. The components detected and quantified using gas chromatography mass spectrometry were as follows: triamidefon present in 70.1% of the samples with concentrations between 0.35 and 42.17mg/kg, and dicofol detected in 7.5% of the samples with concentrations between 0.39 and 2.83mg/kg. Diclorofluanid, procymidone, folpet, propham and metazachlor were also detected but only in a small number of samples. Near infrared spectroscopy with a remote reflectance fibre-optic probe was used to detect samples contaminated with triadimefon via partial least squares discriminant, with a R2 value of 0.71. In addition, the presence of the pesticide triadimefon in propolis was quantified using the modified partial least squares (MPLS) regression method. The calibration results showed a coefficient of determination (R2) of 0.81, a root mean square error (RMSE) of 0.36, and a ratio of performance to deviation (RPD) of 2.5.


Assuntos
Anti-Infecciosos/análise , Resíduos de Praguicidas/análise , Própole/análise , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Calibragem , Chile , Resíduos de Praguicidas/química , Espanha
11.
Int J Lab Hematol ; 38(5): 535-42, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27339814

RESUMO

INTRODUCTION: Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (ß-thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the molecular identification of α- and ß-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . METHODS: Common deletional alleles (-α(3.7) , -α(4.2) , - -(SEA) , - -(MED) , - -(FIL) , - -(THAI) , -α(20.5) ) and α-triplication were studied by gap-PCR and nondeletional alleles (α(IVSI) ((-5nt)) , α2 (NcoI) , α1 (NcoI) ) by ARMS. ß-thal alleles Cd39 (C>T), IVS1:1 (G>A), IVS1:110 (G>A), and Spanish δß-thal were also investigated. DNA sequencing was performed on HBA2, HBA1, and HBB genes. Negative samples were subjected to MLPA. RESULTS: In 35 subjects, we identified the mutations, -α(3.7) , - -(SEA) , - -(FIL) , α(IVSI) ((-5nt)) , and ααα(anti3.7) and two novel deletion alleles - -(Mex1) (6.8-8.9 kb) and - -(Mex2) (77.6-135.7 kb). Four individuals also had a ß-thal allele (Cd39/IVS1:110). No α-thal alleles were observed in 16 subjects, but three had a ß-thal mutation Cd39, IVS1:110, and Spanish δß-thal. CONCLUSION: α-thal is relatively common in Mexican patients, the combination with ß-thal is sometimes unexpected, and this underlines the importance of performing molecular analysis for both α- and ß-genes defects in patients showing microcytic hypochromic anemia.


Assuntos
Alelos , Anemia Hipocrômica/genética , Sequência de Bases , Hemoglobinas Glicadas/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , Talassemia alfa/genética , Talassemia beta/genética , Feminino , Humanos , Masculino , México
14.
Rev Neurol ; 59(10): 449-58, 2014 Nov 16.
Artigo em Espanhol | MEDLINE | ID: mdl-25354507

RESUMO

INTRODUCTION: Febrile seizures are one of the most frequent reasons why patients visit the healthcare specialist. Up until now, patients with complex febrile seizures (CFS) have been hospitalised, bearing in mind the higher percentages of epilepsy and acute complications that were classically reported. Today there are studies that back the idea of being less invasive in the management of these patients. AIMS. To describe the characteristics of patients hospitalised due to CFS and to propose a new protocol to be followed in dealing with such cases. PATIENTS AND METHODS: The medical records of patients hospitalised because of CFS (January 2010-December 2013) were analysed retrospectively. Epidemiological and clinical data are presented, together with information from complementary tests and about development. RESULTS: CFS account for 4.2% of all neuropaediatric cases of admittance to hospital in (67 patients). Mean age at the time of the event: 25 months. A pathological family history existed in 47% of cases, and 31% had a previous personal history of febrile seizures. The CFS lasted less than five minutes in 54% of patients; there were also recurrences, most of them with a total of two crises and during the first day (CFS due to recurrence are the most frequent). None of the complementary tests that were carried out were of any use as a diagnostic aid during the acute phase. During their follow-up, five patients presented complications. Patients with a family history of febrile seizures presented a higher risk of epilepsy or recurrence (p = 0.02), with no significant differences as regards age, number of seizures, febrile interval, epileptic status or type of CFS. CONCLUSIONS: The CFS are not associated with greater acute complications, and the complementary examinations do not allow high-risk patients to be distinguished at an early stage. Hospitalising them could be avoided in the absence of other clinical signs and symptoms, and thus be limited to selected cases.


TITLE: Crisis febriles complejas: debemos cambiar nuestro modo de actuacion?Introduccion. Las convulsiones febriles son una de las causas mas frecuentes de consulta. Hasta ahora, los pacientes con convulsiones febriles complejas (CFC) deben ingresar, dado el mayor porcentaje de epilepsia y complicaciones agudas descrito clasicamente. En la actualidad hay estudios que apoyan ser menos invasivos en el abordaje de estos pacientes. Objetivo. Describir las caracteristicas de los pacientes ingresados por CFC y proponer un nuevo protocolo de actuacion. Pacientes y metodos. Analisis retrospectivo de historias clinicas de ingresados por CFC (enero de 2010-diciembre de 2013). Se ofrecen datos epidemiologicos, clinicos, pruebas complementarias y evolucion. Resultados. Las CFC suponian un 4,2% de los ingresos de neuropediatria (n = 67). Edad media al evento: 25 meses. El 47% tenia antecedentes familiares patologicos, y el 31%, antecedentes personales de convulsion febril previa. En el 54% de los pacientes, la CFC duro menos de cinco minutos; hubo recurrencia, la mayoria con un total de dos crisis y durante el primer dia (las CFC por recurrencia son las mas frecuentes). De las pruebas complementarias realizadas, ninguna de ellas sirvio como apoyo diagnostico en el momento agudo. Durante su seguimiento, cinco pacientes presentaron complicaciones. Los pacientes con antecedentes familiares de convulsiones febriles presentan mayor riesgo de epilepsia o recurrencia (p = 0,02), sin diferencias significativas respecto a la edad, numero de crisis, intervalo de fiebre, estado epileptico o tipo de CFC. Conclusiones. Las CFC no asocian mayores complicaciones agudas; las exploraciones complementarias no permiten discriminar precozmente a los pacientes de riesgo. Su ingreso podria evitarse en ausencia de otros signos clinicos y limitarse a casos seleccionados.


Assuntos
Convulsões Febris/terapia , Anti-Infecciosos , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Protocolos Clínicos , Gerenciamento Clínico , Eletroencefalografia , Feminino , Humanos , Lactente , Infecções/complicações , Infecções/diagnóstico , Infecções/tratamento farmacológico , Masculino , Neuroimagem , Prognóstico , Recidiva , Estudos Retrospectivos , Fatores de Risco , Convulsões Febris/tratamento farmacológico , Convulsões Febris/epidemiologia , Convulsões Febris/etiologia , Punção Espinal
15.
Ultrasound Obstet Gynecol ; 44(3): 361-4, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24816975

RESUMO

OBJECTIVE: To estimate the interobserver agreement between a trainer and trainees in assigning the International Ovarian Tumor Analysis (IOTA) color score to adnexal masses using three-dimensional (3D) volumes and videoclips. METHODS: Fifty-one digital videoclips and 3D volumes of a non-consecutive series of adnexal masses were used for this study. One trainer and four trainees evaluated first the 3D volume and 1 week later a videoclip from the same mass. They had to assign IOTA color scores according to their impression of the amount of color content in each case. Interobserver agreement between trainer and trainees was assessed using Cohen's weighted kappa index with 95% CIs and percentage of agreement. RESULTS: When using 3D volumes, interobserver agreement was good for three out of four pairs of comparisons and very good for one (kappa values of 0.70, 0.68, 0.81 and 0.71 for trainees A, B, C and D, respectively). When using videoclips, interobserver agreement was very good for two out of four pairs of comparisons and good for two (kappa values of 0.84, 0.80, 0.68 and 0.86 for Trainees A, B, C and D, respectively). CONCLUSION: Evaluation of IOTA color scores in adnexal masses using either videoclips or 3D volumes is reproducible even in the hands of trainees after a short training program.


Assuntos
Doenças dos Anexos/diagnóstico por imagem , Cor , Imageamento Tridimensional , Ultrassonografia Doppler , Gravação em Vídeo , Doenças dos Anexos/classificação , Doenças dos Anexos/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imageamento Tridimensional/métodos , Variações Dependentes do Observador , Reprodutibilidade dos Testes
16.
J Comp Neurol ; 522(8): 1929-40, 2014 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-24288162

RESUMO

Olfactory sensory neurons that express transient receptor potential channel M5 (TrpM5) or neurotrophin-3 (NT-3) project to defined clusters of glomeruli situated ventrally in the main olfactory bulb. Using genetically labeled mice, we investigated whether expression of NT-3-driven ßgal and TrpM5-driven GFP marked overlapping sets of glomeruli and whether expression of these markers was coordinated. Our results indicate that these markers largely characterize independent sets of olfactory sensory neuron axons and glomeruli. Further, in glomeruli in which both TrpM5-GFP and NT-3-ßgal labeled axons occur, they are expressed independently. The nature of staining for these two markers also differs within glomeruli. Within each labeled TrpM5-positive glomerulus, the level of TrpM5-GFP expression was similar throughout the glomerular neuropil. In contrast, NT-3-driven ßgal expression levels are heterogeneous even within heavily labeled glomeruli. In addition, a population of very small TrpM5-GFP positive glomeruli is apparent while no similar populations of NT-3-ßgal glomeruli are evident. Taken together, these data suggest that TrpM5 and NT-3 characterize two largely independent receptor populations both conveying odorant information to the ventral olfactory bulb.


Assuntos
Fatores de Crescimento Neural/análise , Fatores de Crescimento Neural/biossíntese , Bulbo Olfatório/química , Bulbo Olfatório/metabolismo , Canais de Cátion TRPM/análise , Canais de Cátion TRPM/biossíntese , Animais , Feminino , Masculino , Camundongos , Camundongos Transgênicos
17.
J Exp Biol ; 216(Pt 11): 2017-30, 2013 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-23430990

RESUMO

An experimental investigation of near field aerodynamics of wind dispersed rotary seeds has been performed using stereoscopic digital particle image velocimetry (DPIV). The detailed three-dimensional flow structure of the leading-edge vortex (LEV) of autorotating mahogany seeds (Swietenia macrophylla) in a low-speed vertical wind tunnel is revealed for the first time. The results confirm that the presence of strong spanwise flow and strain produced by centrifugal forces through a spiral vortex are responsible for the attachment and stability of the LEV, with its core forming a cone pattern with a gradual increase in vortex size. The LEV appears at 25% of the wingspan, increases in size and strength outboard along the wing, and reaches its maximum stability and spanwise velocity at 75% of the wingspan. At a region between 90 and 100% of the wingspan, the strength and stability of the vortex core decreases and the LEV re-orientation/inflection with the tip vortex takes place. In this study, the instantaneous flow structure and the instantaneous velocity and vorticity fields measured in planes parallel to the free stream direction are presented as contour plots using an inertial and a non-inertial frame of reference. Results for the mean aerodynamic thrust coefficients as a function of the Reynolds number are presented to supplement the DPIV data.


Assuntos
Meliaceae/anatomia & histologia , Sementes/anatomia & histologia , Fenômenos Biomecânicos , Modelos Biológicos , Reologia , Vento
18.
Neurología (Barc., Ed. impr.) ; 27(4): 212-215, mayo 2012. tab
Artigo em Espanhol | IBECS | ID: ibc-101995

RESUMO

Introducción: La epilepsia benigna con puntas centro-temporales (EBPCT) es el síndrome epiléptico más frecuente de la infancia, tiene carácter edad-dependiente, elevada predisposición genética y curso benigno. El objetivo de este trabajo es describir el curso clínico y el pronóstico de 60 pacientes diagnosticados de EBPCT en nuestro centro. Pacientes y métodos: Revisión retrospectiva de los pacientes diagnosticados de EBPCT en un hospital universitario (1995-2009). Se dividieron en 2 grupos: a) pacientes que cumplían todos los criterios clásicos de EBPCT, y b) cumplían los criterios excepto uno (menos de 4 años; crisis en vigilia; alteraciones EEG no típicas).Resultados: Se seleccionó a 60 pacientes, 34 varones y 26 mujeres. Se incluyó a 31 pacientes en el grupo 1 y a 29 en el grupo 2. Edad media de inicio en el grupo 1: 7,45 años; grupo 2: 6,55 años. Se indicó tratamiento médico en 32,2% de pacientes del grupo 1, y en 41,3% del grupo 2. La evolución fue favorable en la mayoría: 58% en el grupo 1 y 62,1% en el 2 estaban libres de crisis tras un año. Edad media a la que desaparecieron: 8,54 años en el grupo 1 y 7,84 años en el grupo 2. No se encontraron diferencias estadísticamente significativas en ninguno de estos parámetros.Conclusiones: A diferencia de lo que algunos autores habían publicado, en este trabajo no se han identificado factores clínicos de mala evolución en pacientes con EBPCT, de modo que su diagnóstico se correlaciona con una evolución favorable y un excelente pronóstico neurológico (AU)


Introduction: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. Patients and methods: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). Results: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters.Conclusions: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome (AU)


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Epilepsia Rolândica/classificação , Discinesias/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Idade de Início , Estudos Retrospectivos , Convulsões Febris/epidemiologia
20.
Neurologia ; 27(4): 212-5, 2012 May.
Artigo em Espanhol | MEDLINE | ID: mdl-21893369

RESUMO

INTRODUCTION: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. PATIENTS AND METHODS: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). RESULTS: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters. CONCLUSIONS: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome.


Assuntos
Epilepsia Rolândica/terapia , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Rolândica/tratamento farmacológico , Feminino , Hospitais Universitários , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento
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