Síndrome de Kartagener y artritis reumatoide. Reporte de caso / Kartagener Syndrome and Rheumatoid Arthritis. Case Report

Presentación del caso. Se trata de una mujer de 26 años de edad, en seguimiento por la especialidad de reumatología desde los 17 años, cuando consultó con historia de un año de evolución de síndrome poliarticular de grandes y pequeñas articulaciones, aditivo, simétrico acompañado de fatiga, rigidez matutina mayor de una hora. Se reportó además factor reumatoide positivo. La radiografía de ambas manos presentó erosiones, que confirmó el diagnóstico de artritis reumatoide. Adicionalmente, la paciente tenía el antecedente de procesos sinobronquiales a repetición desde su infancia. En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. Intervención terapéutica. La paciente presentaba actividad clínica severa de la artritis reumatoide, se inició el tratamiento con metotrexato 10 mg vía oral un día a la semana, prednisona 5 mg al día y ácido fólico 5 mg a la semana y citas periódicas, controlando los datos de actividad y efectos adversos de los medicamentos, con pruebas hepáticas, hemograma y transaminasas. La especialidad de neumología recomendó la inclusión de la paciente en un programa de rehabilitación respiratoria, así como el uso de azitromicina 500 mg cada día por tres días en los períodos de agudización. Evolución clínica. El tratamiento logró mantener una actividad leve de la artritis reumatoide y sin exacerbación de los síntomas respiratorios

Case presentation. A 26-year-old woman, under follow-up by the rheumatology specialty since she was 17 years old, when she consulted with a history of one year of evolution of polyarticular disease of large and small joints, additive, symmetrical, accompanied by fatigue and morning stiffness for more than one hour. Positive rheumatoid factor was also reported. Additionally, the patient had a history of repeated sinobronchial processes since childhood. Medical examination revealed sinus pain in the paranasal sinuses, dextrocardia, and bronchiectasis, confirmed by imaging studies, which led to the diagnosis of Kartagener's syndrome. Treatment. The patient presented the severe clinical activity of rheumatoid arthritis. The treatment was started with methotrexate 10 mg orally one day a week, prednisone 5 mg a day, and folic acid 5 mg a week and periodic appointments, controlling the activity data and adverse effects of the drugs, with liver tests, hemogram, and transaminases. The pneumology department recommended the inclusion of the patient in a respiratory rehabilitation program as well as the use of azithromycin 500 mg every day for three days during periods of exacerbation. Outcome. The treatment was successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms

Mechanism of Aurantii Fructus and Its Active Components in Regulating Gastrointestinal Motility： A Review / 中国实验方剂学杂志

Gastrointestinal motility disorder is an important cause of digestive system diseases. Patients often suffer from nausea， vomiting， gastric retention， gastroparesis， constipation， and many other symptoms， and their quality of life is seriously reduced. Prokinetic agents are routinely used in clinical practice， but their long-term use is prone to problems such as reduced efficacy and increased adverse reactions. Since the incidence of gastrointestinal diseases has continued to rise globally in recent years， there is an urgent need for clinical development of safe and effective treatment strategies. Aurantii Fructus， a traditional Chinese medicine， has the effect of smoothing Qi and eliminating distention， and it has been used to treat gastrointestinal diseases for thousands of years. In modern clinical practice， it is mainly used for the treatment and auxiliary treatment of various gastrointestinal diseases such as functional dyspepsia， functional constipation， and irritable bowel syndrome. The efficacy is remarkable， and no adverse reactions have been reported at conventional doses. Therefore， it can greatly improve the symptoms of patients with gastrointestinal diseases and improve their quality of life. Modern research has revealed that there are many active components in Aurantii Fructus， among which flavonoids have the highest content and the most types. Flavonoids are the main active components in Aurantii Fructus to regulate gastrointestinal motility. Aurantii Fructus and its active components can affect gastrointestinal hormones， neural pathways， Cajal mesenchymal cells， and other multiple mechanisms. They can adjust gastrointestinal motility and correct gastrointestinal motility disorders， showing potential application value in the treatment of gastrointestinal motility disorders. However， a comprehensive analysis of Aurantii Fructus in this aspect is still lacking. This study summarized the pharmacological activities of active components of Aurantii Fructus extract and its flavonoids， volatile oils， alkaloids， and coumarin on the regulation of gastrointestinal motility and explored the latest research progress on its mechanism. Finally， the adverse reactions of Aurantii Fructus were summarized. It aims to provide a scientific basis for the research and clinical application of Aurantii Fructus and its active components in the regulation of gastrointestinal motility.

Juvenile Allergic Urethritis with Urethro-vasal Reflex Masquerading Cauda Equina Syndrome

We report a case of severe Juvenile Allergic Urethritis secondary to double concentrate orange squash of a famous brand in a 3-year-old boy who presented with urethral and perineal pain resulting in an abnormal gait and urinary symptoms suggestive of Cauda Equina Syndrome. Ultrasound of the Urinary Tract was normal as was the Magnetic Resonance Imaging (MRI) of the Spine. Withdrawal of the allergen produced complete recovery. Symptoms recurred on food challenge. There are several learning points and take-home messages in this case such as (1) Allergic Urethritis can have a dramatic presentation, mimicking serious conditions such as Cauda Equina Syndrome. (2) Food challenge provided the definitive diagnosis: this is the first report of double concentrate orange squash induced urethritis. (3) Complete avoidance has resulted in an enduring cure. (4) Appropriate timely referral by general Practitioner and cohesive and well-coordinated multidisciplinary team management at the University Teaching Hospital is required to successfully manage such rare and challenging case

Management of symptoms recurrence after myotomy for achalasia. a practical approach / Manejo da recidiva de sintomas após miotomia para acalasia. uma abordagem prática

ABSTRACT BACKGROUND: Achalasia is an esophageal motility disorder, and myotomy is one of the most used treatment techniques. However, symptom persistence or recurrence occurs in 9 to 20% of cases. AIMS: This study aims to provide a practical approach for managing the recurrence or persistence of achalasia symptoms after myotomy. METHODS: A critical review was performed to gather evidence for a rational approach for managing the recurrence or persistence of achalasia symptoms after myotomy. RESULTS: To properly manage an achalasia patient with significant symptoms after myotomy, such as dysphagia, regurgitation, thoracic pain, and weight loss, it is necessary to classify symptoms, stratify severity, perform appropriate tests, and define a treatment strategy. A systematic differential diagnosis workup is essential to cover the main etiologies of symptoms recurrence or persistence after myotomy. Upper digestive endoscopy and dynamic digital radiography are the main tests that can be applied for investigation. The treatment options include endoscopic dilation, peroral endoscopic myotomy, redo surgery, and esophagectomy, and the decision should be based on the patient's individual characteristics. CONCLUSIONS: A good clinical evaluation and the use of proper tests jointly with a rational assessment, are essential for the management of symptoms recurrence or persistence after achalasia myotomy.

RESUMO RACIONAL: A acalasia é um distúrbio da motilidade esofágica e a miotomia é uma das técnicas de tratamento mais utilizadas. No entanto, a persistência ou recorrência dos sintomas ocorre em 9 a 20%. OBJETIVOS: Este estudo visa fornecer uma abordagem prática para o manejo da recorrência ou persistência dos sintomas de acalasia após miotomia. MÉTODOS: Foi realizada uma revisão crítica para reunir evidências para uma abordagem racional no manejo da recorrência ou persistência dos sintomas de acalasia após miotomia. RESULTADOS: Para o manejo adequado de um paciente com acalásia com sintomas significativos após miotomia, como disfagia, regurgitação, dor torácica e perda de peso, é necessário classificar os sintomas, estratificar a gravidade, realizar exames adequados e definir uma estratégia de tratamento. Uma investigação diagnóstica diferencial sistemática é essencial para cobrir as principais etiologias de recorrência ou persistência dos sintomas após a miotomia. A endoscopia digestiva alta e a radiografia digital dinâmica são os principais exames que podem ser aplicados para investigação. As opções de tratamento incluem dilatação endoscópica, POEM (miotomia endoscópica oral), remiotomia e esofagectomia, e a decisão deve ser baseada nas características individuais do paciente. CONCLUSÕES: Uma boa avaliação clínica e a utilização de exames adequados, juntamente com uma avaliação racional, são essenciais para o manejo da recorrência ou persistência dos sintomas após miotomia por acalasia.

Alterações oculares em escolares e adolescentes após início da pandemia por COVID-19 / Acute eye symptoms in schoolchildren and adolescents after the onset of COVID-19 pandemic

RESUMO Objetivo Identificar as alterações oculares em crianças e adolescentes secundárias ao fator do isolamento social e ao consequente aumento do uso de telas. Métodos Estudo observacional, descritivo e analítico, do tipo transversal realizado no período de julho a agosto de 2021, por meio da aplicação de questionários. Resultados Apresentaram cefaleia associada ao uso excessivo de tela 26,51% dos estudantes e 38,8% relataram suspeita de insuficiência de convergência. Em relação ao questionário de olho seco, 18,8% foram sintomáticos e 7,5% sintomáticos de difícil manejo. O computador foi o dispositivo mais utilizado em atividades escolares (71,5%), e, em segundo lugar, esteve o celular (66,3%). Casos sintomáticos de olho seco foram mais relatados em participantes que não faziam uso de computador (36,4%). Não foi possível identificar relação entre insuficiência de convergência e tempo de uso de dispositivos. Em relação ao olho seco, aqueles que passaram mais tempo em frente a tela relataram maior porcentagem de sintomas de difícil manejo (42,9%). Conclusão Foram mais prevalentes olho seco e sintomas de insuficiência de convergência na população estudada.

ABSTRACT Objective To identify eye conditions associated to social distancing and related increase in screen time exposure on children and teenagers. Methods Observational, descriptive and analytical study, with a cross-section design, carried out between July and August 2021, by questionnaire survey. Results Headaches related to excessive screen time exposure were reported by 26.51% of the students surveyed, while 38.8% reported suspect convergence insufficiency. Regarding the questionnaire about dry eye, 18.8% were symptomatic and 7.5% reported hard-to-manage symptoms. Computers were the devices most used for schoolwork (71.5%), followed by cellphones on second place (66.3%). Symptomatic cases of dry eye were mostly reported by participants that did not make use of computers (36.4%). It was not possible to establish a connection between convergence insufficiency and device usage time. Those participants that reported more screen time exposure also reported an increased percentage of hard-to-manage symptoms (42.9%), regarding dry eye. Conclusion Dry eye and convergence insufficiency symptoms were more prevalent in the surveyed population.

Cross-sectional evaluation of the saccharin transit time test for primary ciliary dyskinesia: did we discard this tool too soon?

ABSTRACT BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare and heterogeneous disease that is difficult to diagnose and requires complex and expensive diagnostic tools. The saccharin transit time test is a simple and inexpensive tool that may assist in screening patients with PCD. OBJECTIVES: This study aimed to compare changes in the electron microscopy findings with clinical variables and saccharin tests in individuals diagnosed with clinical PCD (cPCD) and a control group. DESIGN AND SETTING: An observational cross-sectional study was conducted in an otorhinolaryngology outpatient clinic from August 2012 to April 2021. METHOD: Patients with cPCD underwent clinical screening questionnaires, nasal endoscopy, the saccharin transit time test, and nasal biopsy for transmission electron microscopy. RESULTS: Thirty-four patients with cPCD were evaluated. The most prevalent clinical comorbidities in the cPCD group were recurrent pneumonia, bronchiectasis, and chronic rhinosinusitis. Electron microscopy confirmed the clinical diagnosis of PCD in 16 of the 34 (47.1%) patients. CONCLUSION: The saccharin test could assist in screening patients with PCD due to its association with clinical alterations related to PCD.

Isolated abducens nerve palsy associated with coronavirus disease: an 8-month follow-up / Paresia isolada do nervo abducente associada ao COVID-19: 8 meses de seguimento

ABSTRACT We report the case of a previously healthy 48-year-old man who developed an isolated abducens nerve palsy 18 days after presenting with coronavirus disease (COVID-19) confirmed by reverse transcriptase polymerase chain reaction. His main complaint at arrival was double vision. Ocular examination revealed a sixth cranial nerve palsy in the left eye. The incomitant esotropia at arrival was 30 prism diopters. Abduction was markedly limited, while adduction was normal in the left eye. The patient underwent complete clinical, neurological, and neuroimaging investigations, including cerebrospinal fluid sample analysis to rule out infectious causes. A conservative approach with orthoptic therapy and Fresnel prism was opted. Eight months after the onset of COVID-19, regression of the strabismus was observed, and the patient reported complete recovery of the diplopia. This case suggests that isolated abducens nerve palsy caused by severe acute respiratory syndrome coronavirus 2 infection may improve with a conservative approach.

RESUMO Reportamos o caso de homem previamente hígido, 48 anos, com paralisia isolada do nervo abducente 18 dias após infecção pelo novo coronavírus (COVID-19) confirmada por reação cadeia polimerase de transcriptase reversa. A principal queixa do paciente na admissão era diplopia. O exame ocular revelou paralisia do sexto nervo craniano do olho esquerdo. Esotropia incomitante no exame inicial media 30 dioptrias prismáticas. Abdução estava limitada com adução completa no olho esquerdo. O paciente foi submetido a investigação clínica e neurológica com exame de neuroimagem, incluindo análise de amostra do líquido cefalorraquidiano para descartar causas infecciosas. Optou-se por abordagem conservadora com terapia ortóptica e prisma de Fresnel. Oito meses após a infecção pelo COVID-19, o paciente evoluiu com regressão do estrabismo e informou recuperação completa do quadro. Este relato sugere que paralisia isolada do nervo abducente causada por SARS-CoV-2 pode melhorar com abordagem conservadora.

Progress in Research on Esophageal Motility Disorders / 胃肠病学

With the alterations of social operation and lifestyle, the clinical problems related to esophagus have increased and changed greatly. Due to the innovation and progression of high - resolution manometry and endoscopy techniques, as well as the achievements of basic research and clinical practice related to duodenal inflammation, intestinal microbiota, leaky gut syndrome and gut - brain interaction, the understanding of esophageal motility disorders has been gradually improved though more doubts have also been raised. This article reviewed the clinical manifestations, pathogenesis, diagnosis and treatment of primary esophageal motility disorders.

Peroral endoscopic myotomy for the treatment of achalasia in the Unified Healthcare System (SUS): results of a short-term / Miotomia endoscópica peroral para o tratamento de acalásia no Sistema Único de Saúde (SUS): resultados de seguimento no curto-prazo

ABSTRACT Introduction: achalasia is a chronic disease. Since there is no curative treatment, diagnosed patients have pharmacological and/or surgical techniques available, aimed at minimizing the condition. POEM appears as a promising new type of palliative treatment with good rates of symptom improvement. Objective: evaluate the profile of POEM at the Clinical Hospital of the Federal University of Pernambuco (HC - UFPE) and correlate it with the world scenario. Methods: data collection was performed retrospectively from September 2017 to October 2019 with all patients undergoing POEM at the HC - UFPE. Sociodemographic, clinical, and hospital variables were evaluated before and three months after the procedure. Results: of 27 patients (52.41 ± 19.24 years old) who underwent the procedure, 66.7% had idiopathic etiology and 33.3% had etiology secondary to Chagas disease. 48% patients underwent previous procedures, of which seven used some type of medication for symptom control, two underwent pneumatic endoscopic dilation, and four underwent Heller cardiomyotomy with partial fundoplication. 62.5% of the evaluated patients had type II achalasia before the procedure. Seven (25.9%) patients presented the following adverse events: four presented bleeding, two pneumoperitoneum, and one both complications, all being treated conservatively. The Eckardt score reduced from 8.37 ± 1.45 to 0.85 ± 1.06 (p-value <0.001). Conclusion: clinical improvement of symptoms and the patient profile followed the worldwide trend, with emphasis on the etiology secondary to Chagas disease, endemic in Brazil. Gastroesophageal reflux remains the main post-operative symptom.

RESUMO Introdução: a acalasia é uma doença crônica. Por não haver tratamento curativo, os pacientes diagnosticados dispõem de técnicas farmacológicas e/ou cirúrgicas, visando minimizar o quadro. A POEM surge como um novo tipo de tratamento paliativo promissor com boas taxas de melhora dos sintomas. Objetivo: avaliar o perfil das POEM realizadas no Hospital das Clínicas da Universidade Federal de Pernambuco (HC - UFPE) e correlacioná-lo com o cenário mundial. Métodos: a coleta de dados foi realizada retrospectivamente no período de setembro de 2017 a outubro de 2019 com todos os pacientes submetidos a POEM no HC - UFPE. Variáveis sociodemográficas, clínicas e hospitalares foram avaliadas antes e três meses após o procedimento. Resultados: total de 27 pacientes (52,41 ± 19,24 anos) que realizaram o procedimento, 66,7% com etiologia idiopática e 33,3% com etiologia secundária à doença de Chagas. 48% tinham sido submetidos a procedimentos prévios, dos quais sete usaram algum tipo de medicamento para controle dos sintomas, dois foram submetidos à dilatação endoscópica pneumática e quatro à cardiomiotomia a Heller com fundoplicatura parcial. 62,5% dos pacientes avaliados tinham acalasia tipo ii antes do procedimento. Sete (25,9%) apresentaram eventos adversos: quatro sangramentos, dois pneumoperitônio e um ambas as complicações, todos foram tratados de forma conservadora. O escore de Eckardt reduziu de 8,37 ± 1,45 para 0,85 ± 1,06 (valor de p<0,001). Conclusão: melhora clínica e o perfil dos pacientes acompanhou a tendência mundial, destaque para a etiologia secundária à doença de Chagas, endêmica no Brasil. O refluxo gastroesofágico continua sendo o principal sintoma pós-operatório.

Kartagener's syndrome: a case report

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.

Clinical diagnosis and treatment of 9 childhood opsoclonus-myoclonus syndrome patients and application of standard rating scale / 中华神经科杂志

Objective:To summarize the clinical features of childhood opsoclonus-myoclonus syndrome (OMS), evaluate severity degree and prognosis using OMS Symptom Severity Standard Rating Scale.Methods:The clinical features,diagnosis, therapeutic regimen and follow-up of 9 children with OMS in Department of Neurology and Oncology Department of Children's Hospital of Fudan University between 2011 and 2019 were retrospectively reviewed. Severity degree and prognosis were evaluated using OMS Symptom Severity Standard Rating Scale.Results:Among the 9 children with OMS, 4 were males and 5 were females. The onset age ranged from 14 months to 5 years, with a median of 17 months. Main symptoms were opsoclonus, myoclonus, ataxia, motor function regression, behavior and mood changes and sleep disorders. Eghit patients were combined with tumor. Seven of them with neuroblastoma were confirmed by surgical pathology, the other one showed spontaneous regression and symptom remission without treatment. Eight patients received hormone combined with intravenous immunoglobulin, of which 3 cases received adrenocorticotropic hormone, while 5 cases received methylprednisolone pulse therapy, with prednisone sequential therapy, decreasing dose gradually. Rituximab was administrated in 3 patients whose annual recurrent time was≥2. Nine patients were divided into 3 groups according to OMS Symptom Severity Standard Rating Scale, 1 of mild degree, 3 of moderate degree, 5 of severe degree. There was no recurrence and sequelae in the mild-degree patient after 3 years follow-up. There was no recurrence and sequelae in 2 of the moderate-degree patients after 1-2 years follow-up. Different degrees of motor, cognitive sequelae were found in 1 of moderate-degree patients and all of severe-degree patients after 1-8 years follow-up.Conclusions:Childhood OMS patients have early onset age. Bad symptom severity before treatment and multiphase course are associated with poor prognosis. OMS Symptom Severity Standard Rating Scale is suitable for estimations of long-term prognosis.

Esofagitis eosinofílica y acalasia esofágica / Eosinophilic esophagitis and esophageal acalasia

Introducción: La esofagitis eosinofílica es una enfermedad emergente, caracterizada por infiltración del esófago por leucocitos eosinófilos. Sus principales síntomas son la disfagia y las frecuentes impactaciones de alimento en el esófago. Actualmente existen evidencias científicas que reconocen la enfermedad como causa posible de evolución no favorable en pacientes después de miotomía de Héller. Objetivo: Describir las evidencias biomoleculares que asocian la esofagitis eosinofílica y la acalasia esofágica. Métodos: Se realizó una revisión sistemática y crítica de las evidencias sobre los mecanismos biomoleculares asociados a la esofagitis eosinofílica y la acalasia esofágica. Se consultaron artículos publicados entre 2015 y 2020 e indexados en las bases de datos PubMed, SciELO, LILACS y Scopus. Análisis e integración de la información: Se discute sobre cuestiones medulares que han sido publicadas recientemente respecto al tema en cuestión. ¿Pueden coexistir la esofagitis eosinofílica y la acalasia esofágica? ¿Influye la esofagitis eosinofílica en el resultado del tratamiento de la acalasia esofágica? ¿Qué investigaciones serían necesarias para establecer la relación entre las dos enfermedades? Conclusiones: Los mecanismos celulares y biomoleculares desencadenados por la infiltración eosinofílica contextualizan la diferencia etiológica y fisiopatológica de la esofagitis eosinofílica y la acalasia esofágica, lo cual sustenta la evolución desfavorable posmiotomía de los pacientes y motiva la realización de estudios prospectivos y controlados con el fin de ofrecer una mejor calidad de vida(AU)

Introduction: Eosinophilic esophagitis is an emerging disease characterized by infiltration of the esophagus by eosinophilic leukocytes. Its main symptoms are dysphagia and frequent food impaction in the esophagus. Scientific evidence is now available that recognizes the disease as the possible cause of unfavorable evolution in patients undergoing Heller myotomy. Objective: Describe the biomolecular evidence associating eosinophilic esophagitis to esophageal achalasia. Methods: A systematic critical review was conducted of the evidence about biomolecular mechanisms associated to eosinophilic esophagitis and esophageal achalasia. The articles consulted were published in the databases PubMed, SciELO, LILACS and Scopus from 2015 to 2020. Data analysis and integration: A discussion is provided about crucial questions published recently concerning the study topic: Can eosinophilic esophagitis and esophageal achalasia coexist? Does eosinophilic esophagitis influence the result of esophageal achalasia treatment? What studies are required to establish the relationship between the two conditions? Conclusions: The cellular and biomolecular mechanisms triggered by eosonophilic infiltration contextualize the etiological and pathophysiological difference between eosinophilic esophagitis and esophageal achalasia. This explains the unfavorable post-myotomy evolution of patients and encourages the conduct of prospective controlled studies aimed at enhancing quality of life(AU)

Varied presentations of congenital ocular synkinesis: do they all fit congenital cranial dysinnervation disorder spectrum? / Apresentações variadas de sincinesias oculares congênitas: todas elas se enquadram ao espectro das desordens congênitas da desnervação craniana?

ABSTRACT Purpose: Synkinesis results from nerve miswirings and causes aberrant movements of the affected muscles. We present a series of cases of rare congenital ocular synkinesis involving the extraocular muscles and the levator palpebrae superioris and speculate the possibility of classifying these entities in the spectrum of congenital cranial dysinnervation disorder. Methods: Records of patients with the diagnosis of congenital ocular synkinesis were analyzed retrospectively. We analyzed the sex, laterality, and complete features of the ocular motility of each patient. Results: Nine patients with congenital ocular synkinesis were included. A slight predominance of women was noted. In terms of laterality, four patients had only the right eye involved, four had only the left eye, and one had both eyes involved. Notably, 55.5% were orthotropic in the primary position. The third, fourth, and sixth cranial nerves were involved in the miswiring in 100%, 44.4%, and 11.1% of the cases, respectively. Conclusions: Congenital synkinesis might present in a very eclectic and uncommon fashion. The aberrant innervation in these cases classifies them into the group of congenital cranial dysinnervation disorders.

RESUMO Objetivo: Sincinesias são resultado de inervações anômalas e ocasionam movimentos aberrantes dos músculos envolvidos. Apresentamos uma série com casos raros de sincinesias oculares congênitas dos músculos extraoculares e do levantador da pálpebra superior e especulamos a possibilidade de classificá-las dentro do espectro das desordens congênitas da desnervação cranianana. Métodos: Prontuários de pacientes com diagnóstico de sincinesia ocular congênita foram estudados retrospectivamente. Analisamos sexo, lateralidade e as características completas do exame de motilidade de cada paciente. Resultados: Nove pacientes com sincinesias oculares congênitas foram incluídos. Houve discreta predominância no sexo feminino. Em termos de lateralidade, o olho direito foi o único envolvido em 4 casos, o olho esquerdo também em 4 casos e 1 caso apresentou acometimento bilateral. 55,5% dos pacientes eram ortotrópicos na posição primária. Os III, VI e IV nervos participaram da sincinesia em 100%, 44,4% e 11,1% dos casos, respectivamente. Conclusões: Sincinesias oculares congênitas podem se apresentar de modo bastante eclético e incomum. A inervação aberrante presente em cada um desses casos os coloca na lista de candidatos a integrar o grupo das desordens congênitas da desenervação craniana.

Therapeutic efficacy observation of acupuncture plus medicine for laryngopharyngeal reflux due to liver-qi stagnation and spleen deficiency / 针灸推拿医学（英文版）

Objective: To observe the clinical efficacy of acupuncture plus medicine in treating laryngopharyngeal reflux due to liver-qi stagnation and spleen deficiency. Methods: A total of 70 patients were divided into a control group and an observation group by the random number table method, with 35 cases in each group. Both groups were treated with conventional medications, and the observation group was treated with additional acupuncture therapy. The reflux symptom index (RSI) and reflux finding score (RFS) were evaluated. Esophageal motility indicators such as lower esophageal sphincter pressure (LESP) and upper esophageal sphincter pressure (UESP), and salivary pepsin level were measured. The clinical efficacy was also compared. Results: The total effective rate of the observation group was higher than that of the control group (P<0.05). After treatment, the RSI and RFS scores in both groups decreased significantly (all P<0.05), and the RSI and RFS scores in the observation group were significantly lower than those in the control group (both P<0.05). There were no significant changes in the LESP and UESP in the control group (both P>0.05), while LESP and UESP in the observation group increased significantly (both P<0.05), and higher than those in the control group (both P<0.05). The salivary pepsin levels in both groups decreased (both P<0.05), and the salivary pepsin level in the observation group was significantly lower than that in the control group (P<0.05). Conclusion: Acupuncture plus medicine can improve symptoms and signs in patients with laryngopharyngeal reflux due to liver-qi stagnation and spleen deficiency, and regulate esophageal motility and salivary pepsin level. Its efficacy is more significant compared with medicine alone.

Reflux symptom index, reflux finding score, esophageal motility and their correlation with laryngopharyngeal reflux in patients with vocal cord polyps / 中国基层医药

Objective:To investigate reflux symptom index (RSI), reflux finding score (RFS), esophageal motility and to correlate them with laryngopharyngeal reflux in patients with vocal cord polyps, providing guidance for clinical study.Methods:A total of 100 patients with vocal cord polyps who received treatment from January 2018 to January 2020 in Jiangshan People's Hospital were included in the observation group. A total of 100 healthy controls who concurrently received physical examination were included in the control group. RSI and RFS were used to preliminarily evaluate laryngopharyngeal reflux. The characteristics of esophageal motility and the pressure of upper and lower sphincter were monitored. The correlation between RSI, RFS, esophageal motility and laryngopharyngeal reflux was analyzed.Results:In the observation group, 35.00% of patients had RSI > 13 points, and 30.00% of patients had RFS > 7 points. The RSI and RFS in the observation group were significantly higher than those in the control group [RSI: (24.17 ± 1.14) points vs. (7.28 ± 12) points; RFS: (17.59 ± 1.52) points vs. (4.28 ± 0.21) points, t = 147.344, 86.742, both P < 0.05)]. The time to upper sphincter relaxation recovery and the duration of upper sphincter relaxation in the observation group were significantly shorter than those in the control group ( t = 5.373, 4.660, both P < 0.05). The intra pellet pressure in the observation group was significantly greater than that in the control group ( t = 2.186, P < 0.05). The length of the lower sphincter in the observation group was significantly shorter than that in the control group ( t = 4.977, P < 0.05). Correlation analysis showed that RSI was positively correlated with foreign body sensation in the throat, continuous throat clearing, nasal reflux or phlegm ( r = 0.640, 0.649, 0.507, all P < 0.05). RFS was positively correlated with disappearance of laryngeal chamber, posterior commissure hyperplasia and vocal cord edema ( r = 0.742, 0.516, 0.547, all P < 0.05). Conclusion:RSI and RFS of patients with vocal cord polyps are positively correlated with laryngopharyngeal reflux. Some patients with vocal cord polyps have dysfunction and abnormal structure of upper and lower esophageal sphincter as well as laryngopharyngeal reflux. Therefore, reflux symptom index, reflux finding score and esophageal motility can be used together to diagnose laryngopharyngeal reflux and increase the diagnosis accuracy

Study of etiology and esophageal motility characteristics of esophagogastric junction outlet obstruction patients / 北京大学学报(医学版)

OBJECTIVE@#To analyze the causes of the esophagogastric junction outlet obstruction (EGJOO) patients, to discuss the differences of the clinical manifestation and esophageal motility characteristics between the anatomic EGJOO (A-EGJOO) and functional EGJOO (F-EGJOO) subgroups, and to search the diagnostic values of the specific metrics for differentiating the subgroups of EGJOO patients.@*METHODS@#For the current retrospective study, all the patients who underwent the esophageal high resonance manometry test were retrospectively analyzed from Jan 2012 to Oct 2018 in Peking University Third Hospital. The EGJOO patients were enrolled in the following research. The clinical characteristics, such as symptoms and causes of the patients were studied. Then the patients were divided into two subgroups as A-EGJOO subgroup and F-EGJOO subgroup. The clinical symptoms and the main manometry metrics were compared between these two subgroups. The significant different metrics between the two groups were selected to draw receiver operating characteristic (ROC) curves and the diagnostic values were analyzed in differentiating the A-EGJOO and F-EGJOO subgroups.@*RESULTS@#The most common symptom of EGJOO was chest pain or chest discomfort (30.63%), then the dysphagia (29.73%), and acid regurgitation/heartburn (27.03%). Non-erosive reflux disease (36.04%) was the most popular cause for EGJOO, then the reflux esophagitis (17.12%). Besides the intra-EGJOO and extra-EGJOO lesions, the connective tissue disease (6.31%) and central nervous diseases (2.70%) were found to be the etiology of EGJOO. The causes of the rest 19 EGJOO were unknown. A-EGJOO patients presented significantly higher intra bolus pressure (IBP) than that of F-EGJOO [6.80 (5.20, 9.20) mmHg vs. 5.10 (3.10, 7.60) mmHg, P=0.016]. The area under curve of IBP was 0.637. When IBP≥5.15 mmHg, the sensitivity was 78.60% and specificity 50.70% to differentiate A- or F-EGJOO.@*CONCLUSION@#Chest pain or chest discomfort was the most common symptom in EGJOO patients. Besides the intraluminal structural disorders, the extra-luminal causes were found in EGJOO patients. A-EGJOO presented higher IBP than that of F-EGJOO patients. The cutoff value of IBP to differentiate A-EGJOO from EGJOO was 5.15 mmHg with sensitivity 78.06% and specificity 50.70%. However for the low area under curve, the diagnostic value of IBP was limited.

Validation of a new water-perfused high-resolution manometry system / Validação de um novo sistema de manometria de alta resolução por perfusão de água

ABSTRACT Background: High-resolution manometry is more costly but clinically superior to conventional manometry. Water-perfused systems may decrease costs, but it is unclear if they are as reliable as solid-state systems, and reference values are interchangeable. Aim: To validate normal values for a new water-perfusion high-resolution manometry system. Methods: Normative values for a 24-sensors water perfused high-resolution manometry system were validated by studying 225 individuals who underwent high resolution manometry for clinical complaints. Patients were divided in four groups: group 1 - gastroesophageal reflux disease; group 2 - achalasia; group 3 - systemic diseases with possible esophageal manifestation; and group 4 - dysphagia. Results: In group 1, a hypotonic lower esophageal sphincter was found in 49% of individuals with positive 24 h pH monitoring, and in 28% in pH-negative individuals. In groups 2 and 3, aperistalsis was found in all individuals. In group 4, only one patient (14%) had normal high-resolution manometry. Conclusions: The normal values determined for this low-cost water-perfused HRM system with unique peristaltic pump and helicoidal sensor distribution are discriminatory of most abnormalities of esophageal motility seen in clinical practice.

RESUMO Racional: A manometria de alta resolução é mais custosa, porém clinicamente superior à manometria convencional. Sistemas por perfusão de água podem ter custo diminuído, mas não é certo se são tão eficazes quanto aos sistemas de estado sólido e se os valores de referência são intercambiáveis. Objetivo: Este estudo visa validar valores de normalidade para um novo sistema por perfusão de água. Método: Valores de normalidade para um sistema de manometria de alta resolução de 24 sensores por perfusão de água foram validados estudando 225 indivíduos submetidos à manometria de alta resolução por queixas clínicas. Pacientes foram divididos em quatro grupos: grupo 1 - doença do refluxo gastroesofágico; grupo 2 - acalasia; grupo 3 - doenças sistêmicas com possível doenças sistêmicas com comprometimento esofágico; e grupo 4 - pacientes com disfagia. Resultado: No grupo 1, esfíncter esofagiano inferior hipotônico foi encontrado em 49% dos indivíduos com pHmetria positiva e 28% daqueles com pHmetria negativa. Nos grupos 2 e 3, aperistalse foi encontrada em todos indivíduos. No grupo 4, somente um paciente (14%) tinha manometria normal. Conclusão: Os valores de normalidade definidos para este sistema de manometria de alta resolução por perfusão de água são discriminatórios da maioria das anormalidades da motilidade esofágica vistas na prática clínica.

Alteração da motilidade do esôfago durante percepção do trânsito do bolo em voluntários saudáveis / Altered esophageal motility during perception of bolus transit in healthy volunteers

ABSTRACT BACKGROUND: The perception of bolus transit through the thoracic esophagus may be caused by altered esophageal anatomy and function. OBJECTIVE: To evaluate the hypothesis that, in healthy volunteers, swallows followed by perception of esophageal bolus transit are associated with changes in esophageal motility. METHODS: Simultaneous evaluation of motility and perception of esophageal bolus transit was performed in 22 healthy volunteers. Esophageal motility was evaluated by high-resolution manometry with a 32-channel solid state catheter. Each volunteer performed, in the sitting position, 10 swallows of a 5 mL bolus of saline and 10 swallows of pieces of 1 cm3 of bread, with an interval of at least 30 seconds between swallows. After each swallow the volunteers were asked about the perception of bolus transit through the esophagus. RESULTS: Perception of bolus transit occurred in 11.7% of liquid swallows and in 48.1% of solid swallows. In liquid swallows the perception was associated with higher distal contractile integral and shorter proximal contraction length. Perception of solid bolus transit was associated with a longer distal latency, longer proximal contraction length, lower proximal contractile integral and shorter proximal contraction duration. CONCLUSION: The perception of swallowed bolus transit through the esophagus in healthy individuals is more frequent with solid than liquid swallows and is associated with changes in proximal esophageal contractions.

RESUMO CONTEXTO: A percepção do trânsito de bolo deglutido através do esôfago torácico pode ser consequência de alterações anatômicas ou funcionais do esôfago. OBJETIVO: Avaliar, em voluntários saudáveis, se a deglutição com percepção do trânsito do bolo pelo esôfago está associada a alteração da motilidade esofágica. MÉTODO: Avaliação simultânea da percepção do trânsito pelo esôfago e motilidade foi realizada em 22 voluntários saudáveis. A motilidade esofágica foi avaliada por manometria de alta resolução. Cada voluntário realizou, na posição sentada, 10 deglutições de 5 mL de soro fisiológico e 10 deglutições de pedaços de 1 cm3 de pão, com um intervalo de pelo menos 30 segundos entre as deglutições. Após cada deglutição, os voluntários foram questionados sobre a percepção do trânsito do bolo através do esôfago. RESULTADOS: A percepção do trânsito ocorreu em 11,7% das deglutições do bolo líquido e em 48,1% das deglutições do bolo sólido. A percepção do bolo líquido foi associada com menor extensão de contração proximal e maior integral da contração distal, comparadas com deglutições sem percepção. A percepção do trânsito de bolus sólido foi associada a maior latência distal, menor extensão de contração proximal, menor integral da contração proximal e menor duração da contração proximal. CONCLUSÃO: A percepção do trânsito do bolo deglutido pelo esôfago torácico ocorreu mais frequentemente com bolo sólido e foi associada a alteração das contrações esofágicas proximais.

Síndrome de Boerhaave: uma complicação rara em pós-operatório de cirurgia estética / Boerhaave syndrome: a rare complication of cosmetic surgery

Introdução: Este estudo se trata de um relato de caso que tem por objetivo alertar os cirurgiões para uma possível complicação em pós-operatório de cirurgias estéticas longas sob anestesia geral. A Síndrome de Boerhaave é uma doença grave que ameaça a vida do paciente e merece um diagnóstico precoce até 12hs e um tratamento adequado. Relato de caso: A paciente no pós-operatório de cirurgia plástica abdominal e mastopexia apresentou, após anestesia geral, crises de vômito e náuseas. Resultados: Paciente com 58 anos do sexo feminino submetida à dermolipectomia abdominal e mastopexia pela a técnica de pedículo inferior sob raquianestesia, onde após um período de quatro horas do término da cirurgia apresentou vários episódios de vômitos. Após 10 horas do ato cirúrgico apresentou queixa de algia ao deglutir, seguida de algia intensa generalizada, dispneia intensa, sudorese, palidez, PA 90x50mmhg. Com a piora do quadro a paciente foi encaminhada para a unidade de terapia intensiva onde foi entubada. Foram realizados exames laboratoriais, toracocentese e exames radiológicos. Atualmente, a paciente encontra-se com prótese esofágica. Conclusões: Fazendo a correlação com a bibliografia, no caso em tela sugere-se evitar cirurgias prolongadas, principalmente sob anestesia geral onde pode ocorrer a retenção de gás carbônico, que pode levar a crise emética no pós-operatório em pacientes com antecedentes de doença esofagiana e estar atentos aos sintomas, não descartando a possibilidade da ocorrência da Síndrome Boerhaave.

Introduction: The objective of this case report is to alert surgeons to a possible postoperative complication of long cosmetic surgery under general anesthesia. Boerhaave syndrome is a serious life-threatening disease that requires diagnosis within 12 hours and proper treatment. Case report: A 58-year-old female patient presented with vomiting and nausea after abdominoplasty and mastopexy under general anesthesia. Results: The patient underwent dermolipectomy and mastopexy using the inferior pedicle technique under spinal anesthesia. Four hours after the operation, she presented several episodes of vomiting. Ten hours after the operation, she reported painful swallowing followed by generalized severe pain and presented severe dyspnea, sweating, pallor, and a 90/50 mmHg blood pressure. As the condition worsened, the patient was referred to the intensive care unit where she was intubated and underwent laboratory tests, thoracentesis, and radiological examinations. The patient currently uses an esophageal prosthesis. Conclusions: The literature suggests avoiding prolonged surgery, especially under general anesthesia, because of the risk of carbon dioxide retention, which may lead to postoperative emetic crisis in patients with a history of esophageal disease. It also suggests paying attention to symptoms, not excluding the possibility of Boerhaave syndrome.