Síndrome de Miller-Dieker: reporte de dos casos / Miller-Dieker Syndrome: Two Cases Report

Resumen Introducción: El síndrome de Miller-Dieker cuenta con un patrón de herencia autosómico dominante y pertenece al grupo de trastornos de la migración neuronal. Se caracteriza por la presencia de lisencefalia de tipo 1, retraso global del desarrollo, microcefalia, epilepsia y dismorfismos faciales dados por mutaciones en el cromosoma 17p13. El síndrome de Miller-Dieker es una enfermedad extremadamente rara con prevalencia de 1 caso por cada 100,000 recién nacidos vivos. Presentación de casos: Nosotros presentamos dos casos de síndrome de Miller-Dieker en los que datos de la exploración física y del interrogatorio fueron pistas que permitieron una fuerte sospecha diagnóstica y que a su vez el diagnóstico definitivo mediante FISH permitió brindar un adecuado manejo con la finalidad de mejorar el pronóstico a largo plazo. Conclusión: Se debe tener una alta sospecha diagnóstica mediante la exploración física dirigida a identificar alteraciones en pacientes con epilepsia de difícil control, ya que permite guiar el diagnóstico etiológico y con ello brindar un adecuado tratamiento.

Abstract Introduction: Miller-Dieker syndrome has an autosomal dominant pattern of inheritance and belongs to the group of neuronal migration disorders. It is characterized by the presence of type 1 lissencephaly, global development delay, microcephaly, epilepsy and facial dysmorphisms caused by mutations in chromosome 17p13. Miller-Dieker syndrome is an extremely rare disease with a prevalence of 1 case per 100,000 live births. Case presentation: We present two cases of Miller-Dieker syndrome in which data from the physical examination and questioning were clues that allowed a strong diagnostic suspicion and that, in turn, the definitive diagnosis by means of FISH allowed us to provide adequate management in order to improve the long-term prognosis. Conclusion: A high diagnostic suspicion must be achieved through physical examination aimed at identifying alterations in patients with difficult-to-control epilepsy, since it allows guiding the etiological diagnosis and thereby providing adequate treatment.

Research on the application of Miller's pyramid theory combined with Bahrain's team activities in standardized residency training of burn surgeons / 中华医学教育探索杂志

Objective:To explore the application of Miller's pyramid theory combined with Bahrain's team activities in the standardized residency training (SRT) of burn surgeons.Methods:Seventy-four residents who were on the SRT program in the Department of Burns & Wound Care in The Second Affiliated Hospital of Zhejiang University were enrolled in the study. The students were divided into control group and observation group according to the teaching methods. Thirty-seven students in the control group were provided with conventional teaching, and 37 students in the observation group were provided with training based on Miller' pyramid theory combined with Bahrain's team activities. The two groups were evaluated for teaching effectiveness and doctor-patient communication skills. SPSS22.0 was used for the chi-square test and t test. Results:The evaluation outcome of teaching effectiveness in the observation group was better than that in the control group ( t=3.01, 3.47, 3.49, 3.32, and 2.54; P=0.004, 0.001, 0.001, 0.001, and 0.013). After the training, the scores of Set Elicit Give Understand End scale in the two groups increased, with significantly higher scores achieved in the observation group than in the control group ( t=3.23, 2.99, 2.07, 3.62, 3.00, and 7.89; P=0.002, 0.004, 0.042, 0.001, 0.004, and <0.001). Conclusion:The application of Miller's pyramid theory and Bahrain's team activities in the SRT of burn surgeons can improve students' evaluation of teaching effectiveness and improve their doctor-patient communication skills.

A case of recurrent Miller-Fisher syndrome with multiple anti-ganglioside antibodies / 中国综合临床

Guillain-Barré syndrome (GBS) defines a kind of Immune-mediated acute inflammatory peripheral neuropathy. Miller-Fisher Syndrome (MFS) is a special variant of GBS, with mostly one-way course and rare clinical recurrence. Only a few recurrent cases have been reported in China. Here we report a case of a young male patient with double vision and progressive aggravation of limb numbness, acute onset, with symptoms of upper respiratory tract infection before onset, accompanied by pupil abnormalities and autonomic nervous dysfunction, who was was admitted to our hospital for similar symptoms 3 years ago and was improved by immunotherapy. The patient had a triad of “ataxia, areflexia and ophthalmoplegia”. Cerebrospinal fluid showed protein-cell separation. Serum anti-Sulfatides antibody IgM, anti-GT1a antibody IgG, anti-GQ1b antibody IgG and anti-GM3 IgM were positive. Recurrent MFS was diagnosed and the symptoms improved after immunotherapy. This case suggests that MFS is clinically heterogeneous, a few patients can present with relapse and generally have a better prognosis with immunotherapy. Pre-existing infection and anti-GQ1b antibody production may be predisposing factors for MFS recurrence.

Entrustable professional activities in undergraduate medical education in foreign medical colleges and universities: research advances and implications / 中华医学教育探索杂志

Objective:To review the process, contents, theoretical basis, and evaluation methods for constructing the framework of entrustable professional activities (EPAs) in the stage of undergraduate medical education (UME) in foreign medical colleges and universities.Methods:PubMed, Web of Science, Embase, and Scopus databases were searched to obtain the articles on EPAs in the stage of UME published up to May 2022, and then a systematic review was performed.Results:A total of 17 articles were included, and the analysis showed that the framework of EPAs in the UME stage was mainly constructed by referring to the existing framework of EPAs and conducting multiple rounds of consultation and revision. The contents of EPAs include core basic EPAs, core specific professional EPAs, and individual selective EPAs. The theoretical basis for developing the EPAs framework mainly include the Miller's Pyramid of Assessment model and Dreyfus and Dreyfus's Model of Skills Acquisition. The mainstream frameworks of EPAs competency include Canadian CanMEDS, six core competencies of American ACGME and their corresponding milestones. The confidence level of EPAs evaluated at the UME stage is highlighted as 9 levels of stratification, and the evaluation methods for confidence decision mainly include observation, communication, and review of results.Conclusion:Foreign EPAs-related research in the UME stage has become more mature, but there is a lack of related studies in China. Chinese medical education researchers can learn from the experience in the development of EPAs in foreign countries and combine it with China's actual situation to construct an integrated EPAs framework for medical education covering the UME stage and the evaluation criteria for confidence level, so as to promote competency-oriented evaluation and feedback and accelerate the construction of a medical talent training system that serves the whole life cycle and the whole health process.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis / Avaliação de pacientes pediátricos apresentando blefaroptose transitória unilateral de início agudo

ABSTRACT Purpose: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. Methods: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. Results: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. Conclusion: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

RESUMO Objetivo: Avaliar as características clínicas de pacientes pediátricos com blefaroptose adquirida unilateral, transitória e de início agudo. Métodos: Neste estudo retrospectivo, foram revisados prontuários clínicos entre abril de 2015 e junho de 2020. Os pacientes foram avaliados em termos de características demográficas, manifestações neurológicas e oftalmológicas associadas, duração dos sintomas, etiologia e achados de imagem. Foram excluídos pacientes com blefaroptose congênita e com blefaroptose adquirida de etiologia crônica. Resultados: Foram incluídos neste estudo 16 pacientes pediátricos (10 masculinos e 6 femininos) com blefaroptose adquirida transitória unilateral de início agudo. A média de idade dos pacientes foi de 6,93 ± 3,16 anos. As causas etiológicas mais comumente identificadas foram trauma em 7 pacientes (43,75%) e infecção (casos parainfecciosos) em 5 pacientes (31,25%). Além disso, a síndrome de Miller-Fisher, a síndrome de Horner secundária a neuroblastoma, a síndrome de Brown adquirida e pseudotumor cerebral foram determinados como causas etiológicas em um paciente cada uma. Achados oculares adicionais estavam associados à blefaroptose em 7 pacientes (58,33%). Foi observada a resolução espontânea da blefaroptose, sem tratamento, em todos os pacientes, exceto nos pacientes com síndrome de Miller-Fisher, neuroblastoma e pseudotumor cerebral. Nenhum paciente precisou de tratamento cirúrgico. Morbidades oculares, como ambliopia, não foram encontradas em nenhum paciente. Conclusão: Este estudo demonstrou que a blefaroptose transitória unilateral de início agudo, rara na infância, pode regredir sem a necessidade de tratamento cirúrgico na população pediátrica. No entanto, também não deve ser esquecido que patologias graves que requerem tratamento podem se apresentar com blefaroptose.

Case-based practical examination as an introduction to formative assessment in pathology: Undergraduate student’s perception

Background: In pathology, students are assessed by both theory as well as practical examination, but we have more upper hand and regularity in conducting theory assessment over practical evaluation. We have put newer case-based practical examination (CBPE) module over traditional one to achieve better practical approach which consists of case scenario pertaining to hematology and urine exercise followed by its interpretation without performing procedure. Aim and Objectives: The objective of this study were to develop and implement this new method of CBPE as a formative assessment tool for undergraduate 2nd year medical students. Materials and Methods: We have included MBBS undergraduate students of 4th semester by dividing students into two groups. Each group consists of 25 students. Group 1 was exposed to CBPE of hematology and urine exercises, while Group 2 was exposed to conventional method of hematology and urine exercises. Evaluation form was given to each student at the end of session to know their perception and opinion regarding this newer form of practical examination. Results: Mean marks scored in Group 1(CBPE) were 28 and in Group 2 (conventional) were 20.32 out of 40 marks. We had used unpaired t-test to calculate significance with P value which was found to be 0.0012. Feedback was based on five-point Likert scale. Most of the faculty members and students gave positive opinion for case-based pattern. Conclusion: CBPE can be used as alternative to conventional practical examination for formative assessment with improvement in performance of students.

Síndrome de Miller-Fisher durante el embarazo

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Miller-Fisher syndrome is a rare, acute, autoimmune, demyelinating disorder which is considered a variant of Guillain-Barré syndrome. The pathologic mechanism is unclear, but acute demyelinating polyneuropathies may be triggered by bacterial or viral infections, major surgical interventions, or vaccination. Pregnancy may be a trigger of the immune response causing the onset of the syndrome. Miller-Fisher syndrome is characterized by acute onset, with predominant involvement of the facial and cranial nerves resulting in ophthalmoparesis, ataxia, and areflexia/hyporeflexia. Diagnosis is based on clinical suspicion together with the determination of specific ganglioside antibodies and other laboratory and imaging tests. Treatment consists of intravenous immunoglobulin and plasmapheresis, together with supportive measures. There are few reports of the syndrome occurring in pregnant women. A case of Miller-Fisher syndrome during pregnancy is presented.

INTRODUCTION Miller-Fisher syndrome (MFS) is a rare disorder that is characterized by acute onset of ophthalmoparesis, ataxia and hyporeflexia / areflexia(1). It was recognized 60 years ago as a variant of Guillain-Barré syndrome (GBS). The annual incidence is 0.09 per 100,000 persons and affects more males than females with a 2:1 ratio(2). GBS usually follows Campylobacter jenuni, cytomegalovirus, Epstein-Barr and influenza virus infections or secondary to major surgery, pregnancy, or vaccination(3,4). MFS accounts for 5%-10% of GBS cases and may have a major autoimmune component due to the presence of anti-ganglioside antibodies. During the acute phase of the disease, these antibodies have a diagnostic sensitivity and specificity of 92% and 97%, respectively(5). MFS during pregnancy is rare and there are only reports of 5 cases in pregnant women. A case of Miller-Fisher syndrome during pregnancy is presented. CLINICAL CASE The patient was 16 years old, primigravida of 20 weeks, who was referred for presenting nausea and incoercible vomiting of five days of evolution, accompanied by double vision, generalized weakness, ataxia,

Disfagia e Disfonia em um caso de Síndrome de Miller Fisher: Avaliação fonoaudiológica / Dysphagia and Dysphonia in a case of Miller Fisher Syndrome: Speech therapy evaluation

RESUMO Relato de caso de um paciente do sexo masculino internado no pronto socorro de um hospital com síndrome de Miller Fisher (SMF). A SMF é caracterizada pela presença de uma tríade de sinais: oftalmoparesia, arreflexia e ataxia, podendo apresentar outros sinais menos frequentes como alterações de fala e de deglutição. A partir da avaliação fonoaudiológica foi possível identificar disfagia orofaríngea de grau grave, hipernasalidade vocal e outras alterações fonoarticulatorias. O paciente apresentou boa evolução a partir de uma terapêutica multiprofissional integrada, incluído atendimento fonoaudiológico.

SUMMARY The case report of a male patient admitted to the emergency hospital with the diagnosis of Miller Fisher syndrome (MF), is presented. MFS is characterized by the presence of a triad of signs: ophthalmoparesis, areflexia and ataxia, and may present other less frequent signs such as speech and swallowing disorders. On the basis of findings during the speech therapy evaluation it was possible to identify severe oropharyngeal dysphagia, vocal hypernasality and other speech disorders. The patient presented a good evolution following an integrated multi-professional treatment program, including speech-language therapy.

Warren Miller y el Modelo TDI-B de toma de decisiones reproductivas: Una revisión teórica / Warren Miller and the T-D-I-B reproductive decision-making model: A theoretical review / Warren Miller e o Modelo T-D-I-B de tomada de decisões reprodutivas: Uma revisão teórica

El presente estudio teórico objetiva sistematizar los aspectos más importantes del modelo Trait-Desires-Intentions-Behaviors (T-D-I-B) de Warren Miller que explica las decisiones reproductivas. Organizamos la información en base a cuatro ejes temáticos: 1) Elementos biográficos de Warren Miller y sus primeras producciones científicas sobre el comportamiento reproductivo; 2) Descripción del modelo T-D-I-B; 3) Definición del modelo diádico donde las estructuras motivacionales de dos socios interactúan a medida que se desarrolla la secuencia de cuatro pasos de cada individuo y; 4) Exposición de la evidencia empírica del modelo T-D-I-B y estudios actuales realizados en Irán, Polonia, Brasil y Perú.

The present theoretical study aims to systematize the most important aspects of Warren Miller's Trait-Desires-Intentions-Behaviors (T-D-I-B) model that explains reproductive decisions. We organize the information based on four thematic axes: 1) Biographical elements of Warren Miller and his first scientific productions on reproductive behavior; 2) Description of the T-D-I-B model; 3) Definition of the dyadic model where the motivational structures of two partners interact as each individual's four-step sequence develops and 4) Exposure of the empirical evidence of the T-D-I-B model and current studies carried out in Iran, Poland, Brazil and Peru.

O presente estudo teórico visa sistematizar os aspectos mais importantes do modelo Traço-Desejo-Intenções-Comportamentos (T-D-I-B) de Warren Miller, que explica as decisões reprodutivas. Organizamos as informações com base em quatro eixos temáticos: 1) Elementos biográficos de Warren Miller e suas primeiras produções científicas sobre comportamento reprodutivo; 2) Descrição do modelo T-D-I-B; 3) Definição do modelo diádico em que as estruturas motivacionais de dois parceiros interagem conforme a sequência de quatro etapas de cada indivíduo se desenvolve; 4) Exposição da evidência empírica do modelo T-D-I-B e estudos atuais realizados no Irã, Polônia, Brasil e Peru.

Clinical application of the new classification criteria in children with Miller Fisher syndrome and clinical characteristics analysis of different types of Miller Fisher syndrome / 中华实用儿科临床杂志

Objective:To investigate the clinical application of the new classification criteria in children with Miller Fisher syndrome (MFS), and to analyze clinical characteristics of different types of MFS.Methods:Clinical data of MFS patients hospitalized in the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from January 2015 to December 2019 were collected and analyzed retrospectively, including demographic characteristics, clinical symptoms, neurological examination findings, laboratory examination data, diagnosis and treatment, and prognosis.The counting data was described by percentage, and the measurement data was described by median.Results:A total of 23 patients were included in the research, including 14 males and 9 females, with a median age of 4 years and 8 months.There were 3 cases of pure MFS; 5 cases of incomplete MFS, including 1 case of acute ptosis and 4 cases of acute ataxia neuropathy; 15 cases of overlapping syndrome, including 13 cases of MFS/Guillain Barre syndrome (GBS), 1 case of MFS/pharyngocervical brachial variant GBS(PCB GBS)and 1 case of MFS/GBS/Bickertaff brainstem encephalitis (BBE). In addition to Ⅲ, Ⅳ and Ⅵ cranial nerve palsy, 11 cases had the involvement of other cra-nial nerves, including 2 cases in pure MFS, 8 cases in MFS/GBS and 1 case in MFS/GBS/BBE.Autonomic nervous dysfunction occurred in 6 cases.Respiratory muscle paralysis occurred in 6 cases, including 5 cases in MFS/GBS and 1 case in MFS/GBS/BBE.Graded by the Hughes scoring system (HG score), 3 cases with pure MFS were graded 4 points; 1 case with acute ptosis was graded 0; 3 cases with acute ataxia neuropathy were graded 2 points, and the other one was graded 3 points; 1 case with MFS/PCB GBS was graded 3 points; 10 cases with MFS/GBS were graded 4 points, 1 case was graded 3 points, and the other 2 cases were graded 2 points; 1 case with MFS/GBS/BBE was graded 4 points.Twenty-two patients were treated with intravenous immunoglobulin.The HG of all patients at discharge decreased at varying degree, which was graded 0 at 6 months of follow-up.Conclusions:The clinical application of the new diagnostic classification method is helpful to the accurate diagnosis of different types of MFS.More than half of MFS cases will develop into the overlapping syndrome.The overlapping of MFS and GBS or BBE is prone to the involvement of cranial nerves except for the external ophthalmic muscles, autonomic nerve dysfunction and respiratory muscle paralysis.The disease course of MFS varies, and its diagnosis should be comprehensively made.All cases of MFS in this study have a satisfactory prognosis.