Functional ataxia in a specialized ataxia center.

BACKGROUND: Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders. OBJECTIVES: This paper aims to clinically characterize patients with functional ataxia. METHODS: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo circa 2008 to 2022. RESULTS: Thirteen patients (1 %) presented with functional ataxia; all female, with a median age of 34.8 years. Six (46.2 %) had psychiatric comorbidities and 7 (53.8 %) endorsed a trigger. Diagnostic features included variable base and stride (100 %), "huffing and puffing" (30.7 %), knee-buckling (30.7 %), uneconomic posturing (38.5 %), tightrope walking (23 %), and trembling gait (15.4 %). Remarkably, no falls were reported in any case. 53.8 % recovered fully or partially, despite no treatment. CONCLUSIONS: Variability of base and stride are universal features of functional ataxia, yet falls are inconspicuous. Functional Ataxia is rare even in a specialized ataxia center.

Dor abdominal funcional é a principal etiologia em crianças encaminhadas ao nível de atenção terciária por dor abdominal crônica / Functional abdominal pain is the main etiology among children referred to tertiary care level for chronic abdominal pain

ABSTRACT Background Chronic abdominal pain (CAP) carries a significant burden of disease. The last edition of the Rome Criteria (Rome IV) allows the diagnosis of functional gastrointestinal disorders (FGIDs) according to symptoms-based criteria; however, patients continue to experience a delay in their diagnosis and to be submitted to different interventions before the establishment of a positive diagnosis. Objective We aimed to characterize etiology, clinical features, and interventions in a pediatric cohort of patients with CAP secondary to FGIDs, who were referred to our tertiary care university-affiliated hospital, in Brazil. Methods A retrospective descriptive study of children and adolescents (aged 20 years and younger) referred to our institution, from January/2013 to December/2018, for CAP, and who fulfilled criteria for FGIDs classified according to Rome IV criteria. Results Three hundred twenty-eight patients with CAP were screened, of which 67.9% (223 patients) fulfilled the criteria for FGIDs and were included in the study. Sixty percent were female, with a mean age of 8.3 years. At the time of referral, the mean duration of symptoms was 2.8 years. Length/height for age and weight for age mean z-scores were -0.08±1.87 and -0.38±1.62, respectively. Functional abdominal pain not otherwise specified was overall the most common diagnosis (70.4%). Before establishing the diagnosis of FGIDs, multiple pharmacological interventions were described, while after, the mainstay of therapy was education/reassurance and dietary interventions. Thirty-two percent of patients did not further require specialized follow-up. Conclusion Even at the tertiary care level, FGIDs were still the most common etiology of chronic abdominal pain, particularly functional abdominal pain not otherwise specified. Despite the relatively long duration of symptoms at referral, cessation of specialized care follow-up was possible in approximately a third of the cases.

RESUMO Contexto A dor abdominal crônica (DAC) pode acarretar importante morbidade. A última edição dos Critérios de Roma (Roma IV) permite o diagnóstico de distúrbios gastrointestinais funcionais (DGIFs) de acordo com critérios baseados em sintomas; no entanto, esses pacientes continuam a apresentar atraso no diagnóstico e a serem submetidos a diferentes intervenções antes do estabelecimento de um diagnóstico. Objetivo Caracterizar a etiologia, características clínicas e intervenções de crianças com DAC que não são mantidas na atenção primária e que foram encaminhadas ao nosso hospital universitário de nível terciário, no Brasil. Métodos Estudo retrospectivo descritivo de crianças e adolescentes (com idade igual ou inferior a 20 anos) encaminhados a nossa instituição, entre janeiro/2013 e dezembro/2018, por DAC e que preenchiam os critérios para DGIFs conforme o consenso de Roma IV. Resultados Trezentos e vinte e oito pacientes com DAC foram triados, 67,9% (223 pacientes) preencheram os critérios para DGIFs e foram analisados. Sessenta por cento do sexo feminino, com idade média de 8,3 anos. A duração média dos sintomas no encaminhamento era de 2,8 anos. Os escores z médios de estatura para idade e peso para idade foram -0,08±1,87 e -0,38±1,62, respectivamente. Dor abdominal funcional sem outra especificação foi o diagnóstico mais comum (70,4%). Antes do diagnóstico de DGIFs, múltiplas intervenções farmacológicas foram descritas, enquanto depois, a base da terapia foi a educação, passar segurança à família e intervenções dietéticas. Trinta e dois por cento dos pacientes apresentaram resolução dos sintomas e receberam alta do acompanhamento especializado. Conclusão Mesmo no nível terciário, as desordens gastrointestinais funcionais ainda constituem a etiologia mais comum da DAC, particularmente a dor abdominal funcional não especificada. Apesar da duração longa dos sintomas, alta do serviço especializados foi possível em aproximadamente um terço dos casos.

Distúrbios funcionais esofágicos na avaliação pré-operatória de cirurgia bariátrica / Esophageal functional disorders in the pre-operatory evaluation of bariatric surgery

ABSTRACT BACKGROUND: Obesity is an independent risk factor for esophageal symptoms, gastroesophageal reflux disease (GERD), and motor abnormalities. When contemplating bariatric surgery, patients with obesity type III undergo esophagogastroduodenoscopy (EGD) and also esophageal manometry (EMN), and prolonged pHmetry (PHM) as part of their pre-operative evaluation. OBJECTIVE: Description of endoscopy, manometry and pHmetry findings in patients with obesity type III preparing for bariatric surgery, and correlation of these findings with the presence of typical GERD symptoms. METHODS: Retrospective study in which clinical symptoms of GERD were assessed, focusing on the presence of heartburn and regurgitation. All patients underwent EMN, PHM and most of them EGD. RESULTS: 114 patients (93 females-81%), average age 36 years old, average BMI of 45.3, were studied. Typical GERD symptoms were referred by 43 (38%) patients while 71 (62%) were asymptomatic. Eighty two patients (72% of total) underwent EGD and 36 (42%) evidenced esophageal abnormalities. Among the abnormal findings, hiatal hernia was seen in 36%, erosive esophagitis (EE) in 36%, and HH+EE in 28%. An abnormal EMN was recorded in 51/114 patients (45%). The main abnormality was a hypotensive lower esophageal sphincter (LES) in 32%, followed by ineffective esophageal motility in 25%, nutcracker esophagus in 19%, IEM + hypotensive LES in 10%, intra-thoracic LES (6%), hypertensive LES (4%), aperistalsis (2%) and achalasia (2%). Among the 43 symptomatic patients, 23 (53%) had abnormal EMN and 31/71 asymptomatic cases (44%) also presented this finding (P=0.30). PHM showed abnormal reflux in 60/114 patients (53%), with a predominance of bi-positional reflux (42%), followed by supine reflux (33%) and upright reflux (25%). Abnormal PHM was found in 26/43 symptomatic cases (60%) and also among 34/71 asymptomatic cases (48%) (P=0.19). CONCLUSION: Manometric abnormalities were common in obesity type III patients, the most frequent being hypotensive LES, followed by IEM. Most patients were asymptomatic. There was no correlation between the finding of motor abnormalities and the presence of symptoms. More than half the patients had abnormal reflux at PHM. We found no significant correlation between abnormal reflux and the presence of symptoms.

RESUMO CONTEXTO: A obesidade é fator de risco independente para sintomas esofagianos, doença do refluxo gastroesofágico (DRGE) e alterações motoras. Pacientes com obesidade tipo III, candidatos à cirurgia bariátrica foram submetidos a endoscopia digestiva alta (EDA) e também realizaram esofagomanometria (EMN) e pHmetria prolongada (PHM) como parte da avaliação pré-operatória. OBJETIVO: Em um grupo de pacientes com obesidade tipo III em pré-operatório de cirurgia bariátrica, descrever os achados endoscópicos, manométricos e pHmétricos, correlacionando-os com a presença de sintomas típicos de DRGE. MÉTODOS: Estudo retrospectivo, de pacientes com obesidade tipo III, candidatos a cirurgia bariátrica. A avaliação clínica focalizou a presença de sintomas típicos de DRGE (pirose/regurgitação); todos foram submetidos a EMN, PHM e a maior parte à EDA, realizada previamente. RESULTADOS: Foram incluídos 114 pacientes, 93 (81%) do sexo feminino, média de idade de 36 anos e IMC médio de 45,3. Sintomas típicos de refluxo foram referidos por 43 (38%) pacientes e 71 (62%) eram assintomáticos. EDA foi realizada por 82 (72%) pacientes, havendo anormalidades esofagianas em 36 (42%). Entre os anormais, havia hérnia hiatal (HH) em 36%, esofagite erosiva (EE) em 36% e HH + EE em 28%. A EMN foi anormal em 51/114 (45%). Entre os anormais, predominou o esfíncter esofagiano inferior (EEI) hipotenso em 32%, seguido por motilidade esofagiana ineficaz (MEI) em 25%, esôfago em quebra-nozes (19%), EEI hipotenso + MEI (10%), EEI intra-torácico (6%), EEI hipertenso (4%), aperistalse (2%) e acalasia (2%). Dentre os 43 sintomáticos, 23 (53%) apresentavam EMN anormal, sendo que em 31 dos 71 (44%) assintomáticos a EMN também era anormal (P=0,30). A PHM revelou refluxo anormal em 60 (53%) pacientes. Predominou o refluxo anormal biposicional (42%) seguido do refluxo supino (33%) e refluxo ereto (25%). Dentre os 43 pacientes sintomáticos, 26 (60%) apresentavam PHM anormal, sendo que em 34 dos 71 assintomáticos a PHM também era anormal (48%) - P=0,19. CONCLUSÃO: Alterações manométricas foram comuns em obesidade tipo III, sendo as mais frequentes o EEI hipotenso, seguida de motilidade ineficaz. A maioria dos pacientes era assintomática. Mais da metade dos pacientes apresentou refluxo anormal à PHM. Não houve diferença significativa entre o achado de refluxo anormal e a presença de sintomas. Não houve relação entre o achado de alterações motoras e a presença de sintomas.

Actualización con la clasificación de Londres en la interpretación de la manometría anorrectal de alta resolución / Update of high-resolution anorectal manometry interpretation using the London classification

Resumen La manometría anorrectal de alta resolución es una prueba diagnóstica utilizada para los trastornos motores y sensitivos anorrectales. Consta de una medición del tono basal y de contracción anal; también valora la maniobra de pujo, reflejo rectoanal inhibitorio (RIAR) y parámetros sensitivos rectales. La interpretación convencional de la manometría anorrectal se enfoca en describir aisladamente la región anatómica disfuncional. Sin embargo, con la clasificación de Londres se busca estandarizar el informe de estos resultados, agrupándolos en trastornos mayores, menores y hallazgos no concluyentes, similar a la clasificación de Chicago para trastornos motores esofágicos.

Abstract High resolution anorectal manometry is a diagnostic test, used for anorectal motor and sensory disorders. It consists of measurement of basal tone, anal contraction and squeeze, the rectoanal inhibitory reflex (RAIR), and rectal sensory parameters. The conventional interpretation of anorectal manometry focuses on describing the dysfunctional anatomical region in isolation. However, the London classification seeks to standardize the report of these results, grouping them into major, minor and inconclusive findings in a manner similar to the Chicago classification for esophageal motor disorders.

El síndrome de intestino irritable como causa de dolor abdominal crónico / Irritable bowel syndrome as a cause of chronic abdominal pain

Introducción: los trastornos funcionales gastrointestinales son motivo de consulta frecuente en Gastroenterología, y presentan un serio problema social y en la dinámica familiar. El síndrome de intestino irritable en la población pediátrica es poco diagnosticado, y el dolor abdominal crónico es motivo de consulta frecuente en la infancia y adolescencia. Objetivo: analizar los aspectos más actuales en su diagnóstico y tratamiento, y su relación con el dolor abdominal crónico. Métodos: se revisaron las bases documentales de PubMed, Scielo y Latindex y el Registro Especializado del Grupo Cochrane de datos relacionados con el síndrome de intestino irritable hasta diciembre de 2017, así como las guías de tratamiento postuladas por distintas organizaciones médicas, basadas en los criterios de Roma y de la Medicina Basada en la Evidencia. Desarrollo: se realizó una revisión del tema referido a la infancia, y se incluyeron concepto y patogénesis más aceptadas, así como los criterios de Roma establecidos para el diagnóstico. Se hizo énfasis en la etiología, diagnóstico clínico y pruebas diagnósticas. Se analizaron algunos aspectos del tratamiento. Conclusiones: el síndrome de intestino irritable es relativamente frecuente como causa de dolor abdominal crónico funcional, y el interrogatorio dirigido según los criterios de Roma es útil para su diagnóstico. La mayoría de los pacientes con síndrome de intestino irritable en la infancia deben ser atendidos en la atención primaria(AU)

Introduction: gastrointestinal functional disorders are a frequent reason for consultation in Gastroenterology services, and represent a serious social problem and in family dynamics. Irritable bowel syndrome in the pediatric population is poorly diagnosed, and chronic abdominal pain is a frequent reason for consultation in childhood and adolescence. Objective: to analyze the ultimate aspects in its diagnosis and treatment, and its relation with chronic abdominal pain. Methods: PubMed, Scielo and Latindex documentary databases and the Cochrane Specialized Register of data related to irritable bowel syndrome until December 2017 were revised, as well as the treatment guidelines presented by different medical organizations based on the criteria of Rome and of Evidence-Based Medicine. Development: a review of the subject referring to childhood was carried out, and the most accepted concept and pathogenesis were included, as well as Rome criteria established for the diagnosis. Etiology, clinical diagnosis and diagnostic tests were emphasized. Some aspects of the treatment were analyzed. Conclusions: Irritable bowel syndrome is relatively common as a cause of chronic functional abdominal pain, and questioning conducted according to Rome criteria is useful for diagnosis. The majority of patients with irritable bowel syndrome in childhood should be treated in the primary care level(AU)

Estado funcional y cognitivo de los adultos mayores con hipoacusia en el Hospital Español de México / Functional and cognitive status of elderly people with hypoacusia at Hospital Español de México

Resumen Antecedentes Aproximadamente del 25 al 30% de los adultos mayores presentan hipoacusia. La presbiacusia es una pérdida auditiva por cambios degenerativos propios del envejecimiento. El estado funcional se define como la capacidad de cumplir acciones para la vida diaria, mantenerse y subsistir de manera independiente. El estado cognitivo es el conocimiento adquirido para procesar cualquier tipo de información para valorar aspectos determinados. Objetivo Determinar si existe alguna relación entre la prevalencia de hipoacusia y el deterioro funcional y cognitivo de pacientes de la tercera edad. Material y métodos Estudio prospectivo, transversal, observacional y analítico en adultos mayores asilados en el Hospital Español de México. Se realizó una historia clínica abreviada, estudio audiológico y escalas de valoración funcional (Lawton-Brody) y cognitiva (Minimental). Resultados Se contó con una muestra de 35 adultos mayores con audiometrías tonales y aplicación de escalas funcionales y cognitivas; se encontró que existe una amplia relación entre el puntaje de las escalas funcionales (p = 0.0260) y cognitivas (p = 0.0049) con un mayor grado de hipoacusia. Discusión A mayor grado de hipoacusia, menor es el puntaje de las escalas funcional y cognitiva; aun teniendo hipoacusias superficiales, las escalas tienen algún cambio significativo.

Abstract Background Approximately 25-30% of elderly people present with hearing loss. Presbycusis is due to degenerative changes typical of aging. Functional status is defined as the ability to perform actions for daily living, support oneself and subsist independently. The cognitive state is the knowledge acquired to process any type of information to assess certain aspects. Objective To determine if there is any relationship between the prevalence of hearing loss and the functional and cognitive impairment in the elderly. Material and methods Prospective, cross-sectional, observational and analytical study in elderly patients at the Hospital Español de México. An abbreviated medical history, audiological study, and functional (Lawton-Brody) and cognitive (Minimental) scales were performed. Results A sample of 35 older adults was gathered, and tonal audiometry and the application of functional and cognitive scales were made, finding that there is a relation of the functional (p = 0.0260) and cognitive scales (p = 0.0049) with a higher degree of hearing loss. Discussion A higher degree of hearing loss impacts the score of the functional and cognitive scales; even with superficial hearing loss, the scales have a significant change.

Propuestas acerca de los trastornos funcionales: ¿disautonomía? / Proposals about functional disorders: dysautonomia?

Resumen INTRODUCCIÓN: los trastornos funcionales se han reconocido a través del tiempo de manera segmentaria y, por tanto, de manera incompleta, desde su diagnóstico hasta su tratamiento. Ejemplos de estos trastornos los constituyen: la migraña, el síndrome de colon irritable, la discinesia vesicular, la fibromialgia, el síndrome de fatiga crónica, la vejiga irritable, el síndrome de prolapso de la válvula mitral, la intolerancia ortostática, la taquicardia postural ortostática, el síncope vasovagal o, en conclusión, la hoy llamada disautonomía. PROPUESTAS: los trastornos funcionales, como el síndrome llamado disautonomía, podrían tener su origen en las respuestas rápidas y poco apropiadas que la amígdala realiza ante ciertos estímulos en relación con la memoria emocional. Se propone nombrar a estos trastornos "síndrome de respuesta disfuncional (REDIS), con el fin de evitar errores diagnósticos en los casos de disautonomía secundaria. Se propone, además, establecer el diagnóstico clínico de estos padecimientos y seleccionar tan sólo aquéllos para la prueba de inclinación en caso de poca respuesta al tratamiento inicial, en donde, los inhibidores de la recaptura de serotonina parecen controlar adecuadamente los síntomas.

INTRODUCTION: Functional disorders have been recognized over time in a segmental way, and therefore, incompletely, from diagnosis to treatment. Examples of such disorders are: migraine, irritable bowel syndrome, biliary dyskinesia, fibromyalgia, chronic fatigue syndrome, irritable bladder, mitral valve prolapse syndrome, orthostatic intolerance, orthostatic postural tachycardia, vasovagal syncope or, in conclusion, the so-called dysautonomia. PROPOSALS: Functional disorders, such as the syndrome called dysautonomia, could have its origin in the rapid and inappropriate responses that the amygdala makes before certain stimuli in relation to emotional memory. It is proposed to name such disorders as "dysfunctional response syndrome (REDIS)", in order to avoid diagnostic errors in cases of secondary dysautonomia. In addition, it is proposed to establish a clinical diagnosis of these conditions and to select only those for the tilt test in case of poor response to the initial treatment, where the serotonin reuptake inhibitors seem to perform an adequate control of the symptoms.

126 hysterical years - the contribution of Charcot / Histeria 126 anos ? a contribuição de Charcot

The authors summarise the concepts of hysteria, emphasizing the seminal contribution of Charcot to its study.

Os autores fazem um resumo sobre os conceitos de histeria, enfatizando a grande contribuição de Charcot ao estudo da histeria.

Efectividad del Equiplán en el tratamiento de la mordida profunda / Effectiveness of the Equiplan in the deep bite treatment

Introducción: la mordida profunda es una maloclusión que se caracteriza por el excesivo sobrepase de los incisivos superiores respecto a los inferiores, siendo causa directa de alteraciones funcionales en otras partes del sistema estomatognático. Varias son las opciones terapéuticas para su corrección, entre ellas, el uso del Equiplán, que ha sido empleado a lo largo de cinco décadas en la recuperación del equilibrio oclusal perdido por esta entidad. Objetivo: valorar la efectividad del Equiplán en el tratamiento de la mordida profunda.Material y Método: se realizó una revisión bibliográfica mediante la consulta de bases de datos de los sistemas referativos: MEDLINE, PubMed y Scielo, con la utilización de descriptores como Equiplán, mordida profunda, rehabilitación neuroclusal. Resultados: el Equiplán mejora la sobremordida por extrusión de los dientes posteriores sin modificar notablemente la posición vertical de los incisivos, y reduce el tiempo de tratamiento en los pacientes según su biotipo facial. Conclusiones: considerando los fundamentos de la Rehabilitación Neuroclusal sobre los que se sustenta su uso, y la experiencia favorable de otros autores, se concluye que el Equiplán es efectivo en el tratamiento de la mordida profunda, al provocar cambios sustanciales del sobrepase en un período de 4 meses(AU)

Introduction: the deep bite is a malocclusion characterized by the excessive overbite of the upper incisors related to the lowers, being the main cause of functional disorders. There are several options to treat it and the use of Equiplan is one of them. For five decades, this appliance has been proved to be effective recovering the occlusal balance. Objective: to reflect the effectiveness of the Equiplan in the deep bite treatment. Materials and Methods: reference systems such as MEDLINE, PUBMED, SCIELO were consulted. It was also made a revision of descriptors like Equiplan, deep bite, treatment, neuro-occlusal rehabilitation. Results: equiplan improves the overbite due to the extrussion of posterior teeth without remarkable changing in the vertical position of incisors, which reduces the treatment period, according to the biofacial type of the patient. Conclusions: considering the fundamentals of neuro - occlusal rehabilitation, a substantial change in the remission of the deep bite has been found in a four month period with the use of Equiplan(AU)

Efectividad del Equiplán en el tratamiento de la mordida profunda / Effectiveness of the Equiplan in the deep bite treatment

Introducción: la mordida profunda es una maloclusión que se caracteriza por el excesivo sobrepase de los incisivos superiores respecto a los inferiores, siendo causa directa de alteraciones funcionales en otras partes del sistema estomatognático. Varias son las opciones terapéuticas para su corrección, entre ellas, el uso del Equiplán, que ha sido empleado a lo largo de cinco décadas en la recuperación del equilibrio oclusal perdido por esta entidad. Objetivo: valorar la efectividad del Equiplán en el tratamiento de la mordida profunda. Material y Método: se realizó una revisión bibliográfica mediante la consulta de bases de datos de los sistemas referativos: MEDLINE, PubMed y Scielo, con la utilización de descriptores como Equiplán, mordida profunda, rehabilitación neuroclusal. Resultados: el Equiplán mejora la sobremordida por extrusión de los dientes posteriores sin modificar notablemente la posición vertical de los incisivos, y reduce el tiempo de tratamiento en los pacientes según su biotipo facial. Conclusiones: considerando los fundamentos de la Rehabilitación Neuroclusal sobre los que se sustenta su uso, y la experiencia favorable de otros autores, se concluye que el Equiplán es efectivo en el tratamiento de la mordida profunda, al provocar cambios sustanciales del sobrepase en un período de 4 meses.

Introduction: the deep bite is a malocclusion characterized by the excessive overbite of the upper incisors related to the lowers, being the main cause of functional disorders. There are several options to treat it and the use of Equiplan is one of them. For five decades, this appliance has been proved to be effective recovering the occlusal balance. Objective: to reflect the effectiveness of the Equiplan in the deep bite treatment. Materials and Methods: reference systems such as MEDLINE, PUBMED, SCIELO were consulted. It was also made a revision of descriptors like Equiplan, deep bite, treatment, neuro-occlusal rehabilitation. Results: equiplan improves the overbite due to the extrussion of posterior teeth without remarkable changing in the vertical position of incisors, which reduces the treatment period, according to the biofacial type of the patient. Conclusions: considering the fundamentals of neuro - occlusal rehabilitation, a substantial change in the remission of the deep bite has been found in a four month period with the use of Equiplan.

Use of light-cured resin to manufacture occlusal splints: report of two cases

This article presents selected cases of patients with functional disorders of the stomatognathic system. This group of patients had a need to made different types of removable occlusal splints. In the past, occlusal appliances were made mostly using self-cured acrylate materials, which for many years had no replacements. The rapid development of dental materials technology led to creation of thermo-formable materials and resins, which can successfully replace traditional acrylic materials in daily clinical practice. A practical application of light-cured resin in the fabrication of the occlusal splints in two clinical cases is reported and discussed herein.

Este artigo apresenta casos selecionados de pacientes com distúrbios funcionais do sistema estomatognático, que necessitavam de diferentes tipos de placas oclusais removíveis. No passado, as placas oclusais eram fabricadas, em sua maioria, utilizando-se materiais acrílicos autopolimerizáveis, sem que houvesse substituto por muitos anos. O rápido desenvolvimento da tecnologia dos materiais odontológicos levou ao desenvolvimento de materiais termo-moldáveis e resinas, os quais podem substituir os tradicionais materiais acrílicos com sucesso na prática clínica diária. A aplicação prática da resina fotopolimerizável na fabricação de placas oclusais em dois casos clínicos é relatada e discutida neste trabalho.