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1.
Chinese Journal of Medical Instrumentation ; (6): 612-616, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1010249

RESUMO

At present, most of the research on hip exoskeleton robots adopts the method of decoupling analysis of hip joint motion, decoupling the ball pair motion of hip joint into rotational motion on sagittal plane, coronal plane and cross section, and designing it into series mechanism. Aiming at the problems of error accumulation and man-machine coupling in series mechanism, a parallel hip rehabilitation exoskeleton structure is proposed based on the bionic analysis of human hip joint. The structure model is established and the kinematics analysis is carried out. Through the OpenSim software, the curve of hip flexion and extension, adduction and abduction angle in a gait cycle is obtained. The inverse solution of the structure is obtained by the D-H coordinate system method. The gait data points are selected and compared with the inverse solution obtained by ADAMS software simulation. The results show that the inverse solution expression is correct. The parallel hip exoskeleton structure can meet the requirements of the rotation angle of the hip joint of the human body, and can basically achieve the movement of the hip joint, which is helpful to improve the human-computer interaction performance of the exoskeleton.


Assuntos
Humanos , Exoesqueleto Energizado , Articulação do Quadril , Marcha , Fenômenos Biomecânicos , Simulação por Computador
2.
Biomédica (Bogotá) ; 42(4): 554-561, oct.-dic. 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1420305

RESUMO

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso


The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.


Assuntos
Síndrome , Doenças Raras , Displasia Ectodérmica , Deformidades Congênitas dos Membros , Padrões de Herança
3.
Acta Pharmaceutica Sinica B ; (6): 2726-2737, 2021.
Artigo em Inglês | WPRIM | ID: wpr-888884

RESUMO

Integrins are transmembrane receptors that have been implicated in the biology of various human physiological and pathological processes. These molecules facilitate cell-extracellular matrix and cell-cell interactions, and they have been implicated in fibrosis, inflammation, thrombosis, and tumor metastasis. The role of integrins in tumor progression makes them promising targets for cancer treatment, and certain integrin antagonists, such as antibodies and synthetic peptides, have been effectively utilized in the clinic for cancer therapy. Here, we discuss the evidence and knowledge on the contribution of integrins to cancer biology. Furthermore, we summarize the clinical attempts targeting this family in anti-cancer therapy development.

4.
Ciencias y Salud ; 4(2): [99-107], 20200000. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1369326

RESUMO

Objetivo: la inesperada ausencia del signo de polipunta o de polipunta onda (PPO) en el electroencefalograma (EEG) de dos casos, de 29 y 51 años, respectivamente, del Síndrome Lance Adams (SLA), que hemos visto y publicado con anterioridad, nos motivó a investigar la edad cuando este signo tiende a extinguirse, dejando de ser obligatorio para diagnosticar SLA a pacientes de edad madura. Métodos: de una muestra de 7137 trazados se incluyeron 6939, tras excluir 198 por referimientos no identificables. Estos EEG del Centro de Rehabilitación y el Centro Médico de la Universidad Central del Este (UCE), fueron realizados con electroencefalógrafos Nervus y Cadwell, de manera respectiva. Se revisaron buscando la presencia de PPO para estudiar la edad, la patología sospechada en cada indicación y el género de los pacientes. Resultados: PPO fue encontrada en 293 casos: 4.22 % de la muestra total. En 272 habría ocurrido antes de los 17 años, con la gráfica mostrando una elevación inicial máxima a las nueve. En cambio, de los 18 a los 65 solo apareció la PPO en 18 casos. 14 pacientes mostraron supresión de paroxismo o patrones de electro depresión sin PPO. Conclusión: la polipunta/polipunta onda prácticamente desaparece a los 17 años, a mayor edad, por lo tanto, el signo PPO deja de ser obligatorio para el diagnóstico del SLA en pacientes mayores. Es más frecuente en epilépticos y en varones


Objective: Unexpected absence of polyspike/polyspike & wave sign (PPW) in the EEG of our 29 and 51-year old published cases of Lance Adams Syndrome (LAS), prompted us to investigate the age when this sign may nearly disappear. This in order of considering it not obligatory for late LAS diagnosis. Methods: Inclusion consisted of a sample of 7137 recordings performed at the Rehabilitation Center and the Universidad Central del Este's (UCE) teaching clinic (Nervus and Cadwell respectively). Excluded were 198 for unidentifiable indications. PPW was searched in order to study patient's age, suspected pathology plus gender. Results: PPW was found in 293cases: 4.22% of the total sample: in 275.it occurred before the age of 17 with curve showing an initial tip at nine while between 18 and 65 only 18 cases showed it. Incidentally 14 patients showed Burst suppression or electro-decrement patterns without PPW. The most common indication pathology was Epilepsy followed by learning disability. Finally it was more frequent in 176(63.9%) male vs. 113(36.1%) in female cases: ratio 1.56 to 1. however not significant for the gender ratio in the total EEG sample is 1.55 to 1. Conclusion: PPW nearly disappears after the age of seventeen, perhaps explaining rarity in advanced aged SLA. It is more frequent in Epilepsy EEG indications and in the male


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Epilepsias Mioclônicas , Eletroencefalografia
5.
Rev. cuba. pediatr ; 90(4): e596, set.-dic. 2018. Ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-978474

RESUMO

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)


Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)


Assuntos
Humanos , Feminino , Recém-Nascido , Síndrome , Displasia Ectodérmica/diagnóstico , Articulações dos Dedos/anormalidades , Cardiopatias Congênitas/diagnóstico , Polidactilia/diagnóstico
6.
Rev. mex. ing. bioméd ; 38(1): 330-342, ene.-abr. 2017. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-902352

RESUMO

Resumen: La discapacidad motora es un problema a nivel mundial y según el censo 2010 del INEGI, en México, las personas con problemas de movilidad representan el 58.3 % de la población con discapacidad. Para afrontar esta problemática, han surgido dispositivos robóticos para rehabilitación que permiten realizar terapias con precisión, eficiencia, reducción de esfuerzos físicos y la oportunidad de realizarlas en grupo. Sin embargo, estos dispositivos no pueden igualar la movilidad de los miembros a rehabilitar y su adaptación a la antropometría mexicana es limitada. En este artículo se presenta el diseño de un exoesqueleto enfocado a la población adulta mexicana con pérdida parcial de movilidad en el hombro. El objetivo es desarrollar un exoesqueleto capaz de generar los 3 movimientos básicos del hombro (flexión-extensión, abducción-aducción y rotación interna-externa), considerando las medidas antropométricas de la población objetivo. Para el diseño del prototipo se utiliza una adaptación de la metodología de diseño mecatrónico de robots. El diseño propuesto es validado cinemáticamente mediante simulaciones numéricas en Matlab® y en ADAMS™, comprobando el rango de movilidad de cada articulación. Además, se realiza el análisis de elemento finito para cuantificar los esfuerzos y las deformaciones en el exoesqueleto, verificando la selección de materiales para su manufactura.


Abstract: The motor disability is a problem at the global level and according to the census 2010 from INEGI, in Mexico, people with mobility problems represent 58.3 % of the population with disabilities. To face this problem, robotic devices for rehabilitation have emerged which allow to perform therapies with accuracy, efficiency, reduction of physical efforts and the opportunity to perform them in group. However, these devices may not match the mobility of the members to rehabilitate and their adaptation to the mexican anthropometry is limited. In this article, the design of an exoskeleton focused on the Mexican adult population with partial loss of mobility in the shoulder is presented. The objective is to develop an exoskeleton capable of generating the 3 basic movements of the shoulder (flexion-extension, abduction-adduction and internal-external rotation) considering the anthropometric measurements of the target population. For the design of the prototype, an adaptation of the mechatronic design methodology for robots is used. The proposed design is validated kinematically through numerical simulations in Matlab® and ADAMS™, the numerical results prove the range of mobility of each exoskeleton joint. Moreover, a finite element analysis is carried out to quantify the stress and strain levels in the exoskeleton, verifying the selection of materials for its manufacture.

7.
Chinese Medical Equipment Journal ; (6): 85-88, 2017.
Artigo em Chinês | WPRIM | ID: wpr-659648

RESUMO

Objective To investigate the linear relationship and standard curve equation between acidic concentrated solution added KCl and the changes of K+ concentration in dialysate,and to apply it in personalized dialysis.Methods The speed of concentrated liquid pump of Fresenius 4008S hemodialysis machine was calibrated,the ratio of the concentration solution to the reverse osmosis water was determined,KCl was added to the concentrated A solution by an equal increment method to detect K+ concentration in the corresponding dialysate,and the K+ concentration standard curve of dialysate was mapped.This study is based on blood K+ concentration of adams-stokes syndrome patients before dialysis,referring to the standard curve,the most suitable dialysate K+ concentration was selected to personalized dialysis,the blood K+ concentration of the patients was measured after dialysis,and ECG monitoring and clinical symptoms observation were carried out.Results There was a linear relationship between acidic concentrated solution added KCl and the changes of K+ concentration in dialysate,the curve equation was y =0.384 lx + 0.002 3,R2 =0.999 4.There was no obvious change in the concentration of other electrolyte ions in the dialysate.Referring to the standard curve,the concentration of dialysate K+ could be adjusted accurately.The blood K+ concentration of adams-stokes syndrome patients could be corrected in time after several times of K+ concentration of personalized dialysis,and ECG recovered eventually,and arrhythmia,syncope,chest tightness and other symptoms disappeared.Conclusion There is a linear relationship between the concentration of dialysate K + and the concentration of KCl added in acidic concentrated solution in the Fresenius 4008S hemodialysis machine.Personalized dialysis is performed by the standard curve with obvious clinical application value,and references are provided for precise regulation of dialysate ion concentration.

8.
Chinese Medical Equipment Journal ; (6): 85-88, 2017.
Artigo em Chinês | WPRIM | ID: wpr-662249

RESUMO

Objective To investigate the linear relationship and standard curve equation between acidic concentrated solution added KCl and the changes of K+ concentration in dialysate,and to apply it in personalized dialysis.Methods The speed of concentrated liquid pump of Fresenius 4008S hemodialysis machine was calibrated,the ratio of the concentration solution to the reverse osmosis water was determined,KCl was added to the concentrated A solution by an equal increment method to detect K+ concentration in the corresponding dialysate,and the K+ concentration standard curve of dialysate was mapped.This study is based on blood K+ concentration of adams-stokes syndrome patients before dialysis,referring to the standard curve,the most suitable dialysate K+ concentration was selected to personalized dialysis,the blood K+ concentration of the patients was measured after dialysis,and ECG monitoring and clinical symptoms observation were carried out.Results There was a linear relationship between acidic concentrated solution added KCl and the changes of K+ concentration in dialysate,the curve equation was y =0.384 lx + 0.002 3,R2 =0.999 4.There was no obvious change in the concentration of other electrolyte ions in the dialysate.Referring to the standard curve,the concentration of dialysate K+ could be adjusted accurately.The blood K+ concentration of adams-stokes syndrome patients could be corrected in time after several times of K+ concentration of personalized dialysis,and ECG recovered eventually,and arrhythmia,syncope,chest tightness and other symptoms disappeared.Conclusion There is a linear relationship between the concentration of dialysate K + and the concentration of KCl added in acidic concentrated solution in the Fresenius 4008S hemodialysis machine.Personalized dialysis is performed by the standard curve with obvious clinical application value,and references are provided for precise regulation of dialysate ion concentration.

9.
Rev. Fac. Med. UNAM ; 59(4): 33-41, jul.-ago. 2016. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-957100

RESUMO

Resumen La escoliosis idiopática del adolescente (EIA) consiste en una deformidad tridimensional de la estructura de la columna vertebral en los planos coronal, sagital y rotacional, que afecta a sujetos sanos a partir de los 10 años de edad hasta la madurez ósea o al término del crecimiento. Esta enfermedad puede comprometer el estado físico, emocional y, por lo tanto, la calidad de vida de quienes la padecen, por lo que debe ser considerada un problema de salud significativo. La EIA se puede sospechar con un examen físico de columna, mediante el cual se evalúa el nivel de los hombros, el nivel de las escápulas, el nivel de la pelvis, la prueba de Adams y el signo de Pitres. A pesar de que en México no se han establecido oficialmente programas para la detección temprana de la enfermedad, la prueba de Adams puede ser la pauta para identificar y prevenir el desarrollo de esta deformidad. La aplicación de esta prueba de tamizaje está al alcance de todos. A pesar de que se podría considerar que su detección oportuna desde etapas tempranas sería la mejor estrategia para combatirla a tiempo, existen grupos de investigación a nivel internacional que opinan distinto, lo que ha colocado a la detección temprana como un tema controversial. Por lo anterior, el objetivo de este trabajo es ofrecer al lector un panorama general y actualizado de las diferentes perspectivas del tema, esperando que sea de utilidad para la práctica profesional.


Abstract Adolescent idiopathic scoliosis (EIA), consists of a three-dimensional deformity of the structure of the spine in the coronal, sagittal and rotational planes affecting healthy subjects ranging from 10 years of age until skeletal maturity or term of growing. This disease can compromise physical and emotional state, therefore, the quality of life of those who suffer it, so the EIA must be considered as significant health problem. The EIA can be suspected by a physical examination of the spine on whichshoulders level, shoulder blades level, pelvis level, Adams Test and Pitres sign are evaluated. Even though, it hasn't been officially established a program for an early detection of the disease in Mexico, evidence through Adams Test can be a guideline to identify and prevent the development of this deformity. The application of this screening test is available to all. Although it could be considered that early detection of this deformity at young ages would be the best strategy to get on time for treatment, there are international research groups that have a different opinion, which has placed early detection of EIA as a controversy topic. Therefore, the aim of this paper is to provide a general and updated overview of the different perspectives of this issue, hoping it will be useful for the professional practice.

10.
Rev. argent. neurocir ; 29(2): 76-79, jun. 2015. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-835741

RESUMO

Introducción: el síndrome de Hakim Adams, o hidrocefalia normotensiva, es un cuadro progresivo que se caracteriza por presentar alteración de la marcha, trastornos esfinterianos y demencia, y que afecta principalmente a pacientes añosos. Si bien existen publicaciones sobre los resultados del tratamiento quirúrgico, estos trabajos suelen evaluar la mejoría sintomática pero no la calidad de vida de los pacientes. Objetivo: Conocer el impacto del tratamiento en pacientes con síndrome de Hakim Adams tratados con derivación de LCR. Material y Métodos: Realizamos un estudio retrospectivo de una serie de 8 pacientes. Se realizó una encuesta para la evaluación preoperatoria y postoperatoria; con un tiempo transcurrido no menor a 6 meses luego del procedimiento. Se utilizó la escala de Barthel para la funcionalidad, y una escala numérica simple para la calidad de vida. Resultados: Previo a la cirugía, 7 casos presentaban alteraciones de la marcha y/o problemas para deambular; 6 casos alteraciones esfinterianas; y 5 casos algún tipo de alteración neurocognitiva. Luego de la cirugía, todos los pacientes refirieron un cambio significativo en la calidad de vida; y también en la funcionalidad, logrando 6 pacientes una independencia absoluta. Conclusión: Aunque nuestra comunicación tiene las debilidades de una serie pequeña de casos analizados en forma retrospectiva, los resultados son concluyentes en cuanto a mejora en la calidad de vida y funcionalidad en el postoperatorio. Creemos que esta modalidad de evaluación puede ayudar a los pacientes y/o familiares de pacientes en el proceso de toma decisiones del tratamiento quirúrgico.


Introduction: the Hakim Adams’ syndrome is a chronic hydrocephalus of the elderly with normal or low CSF pressure that clinically have gait disturbances, urinary incontinence and dementia. Although there are some publications about the surgical results in terms of the relief of symptoms, they don’t usually evaluate the patients’ quality of life. Material and Methods: We are reporting a retrospective study of a series of 8 patients with diagnosis of Hakim Adams’ syndrome that was performed to assess the influence of CSF shunting on their quality of life. A survey was performed to record the preoperative status, with at least 6-months after surgery. Functional results were evaluated with Barthel’s scale; and the quality of life with a simple numeric scale. Results: Before surgery, 7 cases had gait disturbances; 6 cases had urinary incontinence; and 5 cases had neurocognitive impairment. Postoperatively, all patients reported a significative change in their quality of life, and also in the functional scale; 6 cases obtained total independence. Conclusion: Although our communication has the weakness of the small number of cases evaluated in a retrospective manner, the results are conclusive in terms of functionality improvement and quality of life. This kind of assessment may help to our patients and/or patients’ family in the decision making process of shunting procedures.


Assuntos
Líquido Cefalorraquidiano , Demência , Transtornos Neurológicos da Marcha , Hidrocefalia de Pressão Normal
11.
Chinese Journal of Postgraduates of Medicine ; (36): 100-102, 2015.
Artigo em Chinês | WPRIM | ID: wpr-490514

RESUMO

Objective To explore the first-aid treatments and nursing measures of children with Adams-Stokes syndrome.Methods Totally 6 data of patients with Adams-Stokes syndrome who was successfully rescued were analyzed and discussed.Results The main cause of Adams-Stokes syndrome were Severe ventricular tachycardia.The third degree atrioventricular block,Severe myocarditis,Dilated cardiomyopathy,the common inducing factors of Adams-Stokes syndrome were Hypokalemia,psychological factors,overeating,constipation.Conclusion The premise of the successful rescue on Adams-Stokes syndrome children are regulated observation、knowing the patient' s condition well,the medicine and goods for first-aid treatment all ready,and timely finding,correct estimate,giving emergency treatments timely,appropriate nursing are the keys of its successful rescue.

12.
Mongolian Pharmacy and Pharmacology ; : 11-15, 2015.
Artigo em Inglês | WPRIM | ID: wpr-975989

RESUMO

Introduction:Saxifraga spinulosa Adams (S.spinulosa) belongs to the Saxifragaceae family and it is used for treating conjunctivitis, gynecopathy, larynx, pleural cavity in traditional Tibetan and Russian medicine. Study on antioxidant activity on this plant have also been carried out previously. However, no work has been reported on its anti-acetylcholinesterasic and anti-quorum sensing activity.Goal: The purpose of this research was to perform phytochemical, anti-acetylcholinesterase and anti-quorum sensing activities on the extracts of aerial parts of Saxifraga spinulosa Adams.Methods and materials: Anti-acetylcholinesterase activity was evaluated by colorimetric method. Extracts of aerial parts of S.spinulosa were tested for anti-quorum sensing activity by the Chromobacterium violaceum assay using the standard disc-diffusion method. Extracts were chromatographed with thin layer chromatography method. Phytochemical screening of crude extracts S. spinulosa Adams was carried out to detect saponins (Kokate, 1999), ferric chloride and lead acetate test was for tannin and phenolic contents and the detection of gum (Whistler, 1993) and Fehling test of carbohydrates respectively. Results: Plant extraction and fractionation was made earlier. Acetylcholinesterase activity screening was performed on its 4 extracts, prepared from aerial parts of Saxifraga spinulosa Adams. Non-polar chloroform fraction showed more active with 45.7% compared to the aceton extract (36%), water residue (35,5%) and n-butanol fraction (37,5%). Anti-quorum sensing activity was observed with 7 extracts of S. spinulosa aerial part. From them, fractions A (21 mm), B (20 mm), C (20 mm) showed significant activity and others were moderate. No antibacterial activity (for Chromobacterium violaceum) was observed. Thin layer chromatography (TLC) fingerprinting indicated the presence of the phenolic components and flavonoids. Phytochemical screening revealed that phenolic contents, tannins, saponins, carbohydrates, gums were present in the whole plant. Conclusion: This study shows that, S. spinulosa has anti-acetylcholinesterase and anti-quorum sensing activity and we determined that this plant mainly contains polyphenolics compounds. Key words: anti-quorum sensing, anti-acethylcholinesterase, Saxifraga spinulosa Adams

13.
Arch. argent. pediatr ; 112(3): e108-e112, jun. 2014. ilus
Artigo em Espanhol | LILACS | ID: lil-708500

RESUMO

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.


Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.


Assuntos
Feminino , Humanos , Recém-Nascido , Displasia Ectodérmica/genética , Deformidades Congênitas dos Membros/genética , Dermatoses do Couro Cabeludo/congênito , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Morte Fetal , Deformidades Congênitas dos Membros/diagnóstico , Fenótipo , Índice de Gravidade de Doença , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/genética
14.
Laboratory Medicine Online ; : 164-167, 2014.
Artigo em Coreano | WPRIM | ID: wpr-178082

RESUMO

The hemoglobin A1c (Hb A1c) test is widely used to diagnose diabetes mellitus and monitor glycemic control in patients with diabetes. We evaluated the performance of the ARKRAY ADAMS A1c HA-8180 (ARKRAY KDK, Japan), an automated, HPLC-based Hb A1c analyzer. The ARKRAY ADAMS A1c HA-8180 was evaluated for its linearity and precision and compared to the HLC-723 G7 (Tosoh Corporation, Japan), according to the Clinical and Laboratory Standards Institute's guidelines. The coefficients of variation (CVs) for within-run precision at low and high levels were 0.6% and 0.3%, respectively, and the total CVs at low and high levels were 0.8% and 0.6%, respectively. The coefficient of determination (R2) was 0.9975, with linearity in the range of 3.0-18.5%. A comparison between the ARKRAY ADAMS A1c HA-8180 and HLC-723 G7 revealed a good correlation (r=0.9955) in the range of 4.8-14.6%. The runtime was 57 s per sample. The ARKRAY ADAMS A1c HA-8180 showed good analytical performance and high throughput. Therefore, it is suitable for routine use for clinical measurements of Hb A1c.


Assuntos
Humanos , Cromatografia Líquida de Alta Pressão , Diabetes Mellitus , Hemoglobinas Glicadas
15.
Laboratory Medicine Online ; : 179-186, 2014.
Artigo em Coreano | WPRIM | ID: wpr-51337

RESUMO

BACKGROUND: In diabetic patients, both glucose and hemoglobin A1c (HbA1c) concentrations are frequently measured to monitor glycemic control. We examined the analytical performance of the recently developed, automated, ADAMS bridge system (Arkray, Inc., Japan) consisting of the ADAMS glucose GA-1171 and the ADAMS HbA1c HA-8180 analyzers, which allows the consecutive measurement of glucose and HbA1c concentrations. METHODS: We evaluated precision, linearity, carry-over, effects of hematocrit, and turnaround time. Method comparison was conducted between GA-1171 and UniCel DxC 800 (Beckman Coulter, Inc., USA) and Synchron CX3 Delta (Beckman Coulter) for glucose, and between HA-8180 and HLC-723 G8 (Tosoh Bioscience, Inc., Japan) for HbA1c measurements. RESULTS: Total precision (% CV) in measuring high and low level controls was 1.11% and 1.21% for glucose using GA-1171, and 0.86% and 1.3% for HbA1c using HA-8180, respectively. In the linearity test, R2 was 0.9997, 0.9991 and 0.9973 when measuring plasma glucose (58-532 mg/dL), whole blood glucose (74-401 mg/dL), and HbA1c concentrations (4.7-14.7%), respectively. Good correlation was observed between GA-1171 and DxC 800 (r=0.9987), and between HA-8180 and HLC-723 G8 (r=0.9980). Carry-over effect was less than 0.5% for glucose and HbA1c. Turnaround time was reduced from 7 min (CX3 Delta) and 1.43 min (HLC-723 G8) to 2.16 min (GA-1171) and 1.54 min (HA-8180), respectively, when whole blood glucose and HbA1c concentrations were measured consecutively by the ADAMS bridge system. CONCLUSIONS: The ADAMS bridge system had a simple operating procedure and showed an adequate performance and a rapid turnaround time.


Assuntos
Humanos , Glicemia , Glucose , Hematócrito
16.
Rev. cuba. med ; 52(1): 72-77, ene.-mar. 2013.
Artigo em Espanhol | LILACS | ID: lil-671315

RESUMO

La mioclonía poshipoxia crónica o síndrome de Lance Adams es una complicación rara que se produce en pacientes que sobreviven a la hipoxia o la hipotensión prolongada, días o semanas después del daño cerebral. Se presentó un caso con este síndrome, secundario a shock hipovolémico por embarazo ectópico roto. El electroencefalograma con ausencia de paroxismos apoya el origen subcortical de las mioclonías, con respuesta favorable al alonazepán. Se detallaron estudios de neuroimagen y potenciales evocados auditivos de tallo cerebral


The chronic poshipoxia myoclonus or Lance Adams syndrome is a rare complication that occurs in patients who survive prolonged hypoxia or hypotension, days or weeks after the complication. A case with this syndrome, hypovolemic shock secondary to a ruptured ectopic pregnancy is presented. EEG with no paroxysms supports the origin of myoclonus subcortical with favorable response to alonazepán. Neuroimaging and auditory evoked potentials and brainstem studies were detailed


Assuntos
Humanos , Feminino , Adulto Jovem , Ataxia Cerebelar/complicações , Ataxia Cerebelar/reabilitação , Mioclonia/diagnóstico , Mioclonia/etiologia
17.
Dermatol. pediátr. latinoam. (En línea) ; 10(3): 102-105, sept.-dic. 2012. ilus
Artigo em Espanhol | LILACS | ID: lil-740832

RESUMO

El síndrome de Adams-Oliver es un desorden congénito raro, caracterizado por la presencia de aplasia cutis congénita y defectos terminales transversos de los miembros. Comunicamos el caso de una niña de 4 años de edad con síndrome de Adams-Oliver que presenta venas congénitas, tortuosas y dilatadas en el cuero cabelludo, aplasia cutis congénita con defectos parciales del hueso craneal subyacente, calcificaciones intracraneales y anomalías leves de los pies.


Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. We report a case of a 4-year-old girl with Adams-Oliver syndrome with congenital dilated and tortuous scalp veins, aplasia cutis congenita with partial underlying skull defects, intracranial calcifications, and mild foot anomalies.


Assuntos
Humanos , Feminino , Lactente , Couro Cabeludo/anormalidades , Displasia Ectodérmica/diagnóstico , Veias/anormalidades , Couro Cabeludo/patologia , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Veias/patologia
18.
Rev. Soc. Bras. Clín. Méd ; 10(2)mar.-abr. 2012.
Artigo em Português | LILACS | ID: lil-621476

RESUMO

JUSTIFICATIVA E OBJETIVOS: A síndrome de Lance-Adams (SLA) é caracterizada por mioclonias pós-hipóxicas crônicas, podendo surgir dias, semanas ou meses após grave lesão isquêmica ao sistema nervoso central. Sua incidência é muito baixa, sendo uma doença rara, com poucos casos descritos na literatura mundial. O objetivo desse estudo foi relatar um caso de SLA após parada cardiorrespiratória, discutindo algumas hipóteses de sua fisiopatologia e terapêutica. RELATO DO CASO: Paciente do sexo feminino, 50 anos, evoluiu com parada cardiorrespiratória por 30 minutos, durante a recuperação pós-anestésica, após submeter-se à gastroplastia redutora. Evoluiu em coma profundo por um mês, ficando em estado vegetativo persistente por quatro meses apresentando mioclonias generalizadas de difícil controle que melhoravam apenas durante o sono. Sua recuperação neurológica era evidente, escala de coma de Glasgow 11, quando evoluiu a óbito por hipertermia de origem central não responsiva as medicações, após 120 dias de internação. CONCLUSÃO: A SLA ainda possui fisiopatologia desconhecida, as medicações atuais podem como no presente caso, não atenuar os movimentos involuntários. Com a melhora das manobras de reanimação cardiorrespiratória podem ocorrer mais casos de SLA, exigindo maior conhecimento clínico desta doença.


BACKGROUND AND OBJECTIVES: The Lance-Adams syndrome (LAS) is characterized by a chronic myoclonus state after central nervous system hypoxemia that appears days, weeks or months after the insult. Its incidence is very low, being a rare disease, with few cases report in the world-wide literature. The aim of this study is to report a case of LAS after cardiac arrest, discussing some therapeutics hypotheses and physiopathological pathways.CASE REPORT: Female patient, 50 years old, presented a thirty minutes cardiac arrest during post-anesthetic recovery after a successful gastric bypass. Evolved into a deep coma for a month, progressing to vegetative persistent state for four months, during which she presented chronic generalized myoclonus, difficult to control with classical pharmacological agents. His neurological recovery was evident, Glasgow coma score 11 when she evolved to death by central origin hyperthermia unresponsive to medications, after 120 days of hospitalization. CONCLUSION: The Lance-Adams syndrome has yet an unknown pathophysiology mechanism that impairs our clinical approaches. Classical pharmacological agents may be ineffective, as in our case, does not alleviate completely the involuntary movements. With the improvement of cardiopulmonary resuscitation techniques, more cases of LAS should be faced, requiring more clinical knowledge of this disease.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Hipóxia Encefálica , Parada Cardíaca/complicações
19.
Annals of Rehabilitation Medicine ; : 561-564, 2012.
Artigo em Inglês | WPRIM | ID: wpr-126706

RESUMO

It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.


Assuntos
Humanos , Reanimação Cardiopulmonar , Estado de Consciência , Parada Cardíaca , Mioclonia
20.
Rev. cienc. salud (Bogotá) ; 9(3): 281-286, dic. 2011.
Artigo em Espanhol | LILACS, COLNAL | ID: lil-650021

RESUMO

El profesor Raymond D. Adams (1911-2010) fue una de las figuras más prominentes de la neurología norteamericana en el siglo XX. Realizó sus estudios de medicina en la Universidad de Duke. Posteriormente, inició especialización en psiquiatría, pero optó por dedicarse al estudio de la patología del sistema nervioso y a la neurología en el Hospital de Boston durante 10 años. Luego fue contratado por el Hospital General de Massachusetts, donde dirigió del Departamento de Neurología por más de 25 años. Fue profesor emérito de neuropatología de la Universidad de Harvard y obtuvo distinciones de otras universidades y sociedades científicas en los Estados Unidos y en otros países. Contribuyó de manera decisiva a la consolidación de la neurología en Norteamérica creando una escuela de fama mundial. Describió varios síndromes, aportó al desarrollo de otras ramas de la neurociencia, publicó múltiples artículos científicos y, desde 1977, junto con el Dr. Maurice Victor, el libro Principios de neurología, que se ha convertido en un clásico en la materia, traducido a varios idiomas. Dirigió un Departamento en donde se ha formado un muy destacado grupo de neurólogos de varias nacionalidades que dan brillo a la neurología mundial.


Professor Raymond D. Adams (1911-2010) has been one of the most prominent figures in North American neurology in the XX century. He studied medicine at Duke University. He began training in psychiatry but decided to study nervous system pathology and neurology in Boston City Hospital during ten years. Then he became chairman of the neurology department in Massachusetts General Hospital for more than twenty five years. He was Neuropathology Emeritus Professor at Harvard University and has been recognized by other universities and scientific associations in United States and in other countries. His contribution to North American Neurology consolidation has been crucial. He described various syndromes and contributed to the development of other fields in neuroscience. He wrote and published many scientific articles and since 1977 with his colleague Maurice Victor the books "Principles of Neurology" a classic in the field, being traduced to many languages. He has been the chairman of a Department where many important neurologists from different parts of the world where trained and brighten neurology worldwide.


O professor Raymond D. Adams (1911-2010) foi uma das figuras mais proeminentes da neurologia norte-americana no século XX. Realizou seus estudos de medicina na Universidade de Duke. Posteriormente iniciou especialização em psiquiatria, mas optou por dedicar-se ao estudo da patologia do sistema nervoso e à neurologia no Hospital de Boston durante dez anos. Depois foi contratado pelo Hospital Geral de Massachusetts onde dirigiu o departamento de neurologia por mais de 25 anos. Foi professor emérito de Neuropatologia da Universidade de Harvard e obteve distinções de outras universidades e sociedades científicas nos Estados Unidos e em outros países do mundo. Contribuiu de maneira decisiva à consolidação da neurologia em Norte-América criando uma escola de fama mundial. Descreveu várias síndromes, contribuiu o desenvolvimento de outros ramos da neurociência, publicou múltiplos artigos científicos e desde 1977 junto com o Dr. Maurice Victor, o livro "Princípios de Neurologia" que tem se convertido em um clássico na matéria, traduzido a vários idiomas. Dirigiu um Departamento onde tem se formado em um muito destacado grupo de neurologistas de várias nacionalidades que dão brilho à neurologia mundial.


Assuntos
Humanos , Biografia , Docentes , Neurologistas , História da Medicina
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