Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

ABSTRACT Background: Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incomplete penetrance and variable expression that result in a challenging diagnosis. Objective: The objective of the study was to describe the cardiac and extra-cardiac phenotype in a cohort of patients with ATS at risk of sudden cardiac death (SCD) to improve its early clinical identification. Methods: In an observational, transversal study, with a deviant case sampling, four female patients with ATS at high risk of SCD were included in the study. They carried the heterozygous pathogenic variants c.407C>T [p.Ser136Phe], c.652C>T [p.Arg218Trp] (n=2), and c.431G>C [p.Gly144Ala] in the KCNJ2 gene. Patients were evaluated by a cardiologist, a clinical geneticist, and a physiatrist. Results: One patient had the classical facial phenotype and the other three had subtle manifestations. The group of patients presented a diverse set of clinical data such as: triangular face, broad forehead, broadening of medial eyebrows, auricular pits, low-set ears, eyelid ptosis, thin lips, mandibular hypoplasia, and diverse types of dental alterations, single transverse palmar crease, camptodactyly, and syndactyly. Long-exercise test showed a decrement in the percentage amplitude up to 44%, classifying patients in IV or V types according to Fournier’s scale. Conclusions: Extra-cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.

Application of electrophysiological test in prediabetic peripheral neuropathy / 国际生物医学工程杂志

Early diagnosis of prediabetic peripheral neuropathy depends on the evaluation of small fibers.Traditional nerve conduction tests can only evaluate the function of large myelinated fibers,while lack of sensitivity to small fibrous lesions.These lesions were related to pain and autonomic neuropathy.In recent years,with the progress of neurophysiological diagnosis technology,the early diagnosis of diabetic peripheral neuropathy has been improved.Clinical methods,commonly used in the detection of small fibrous lesions,mainly include skin sympathetic response,quantitative sensory test,contact heat pain evoked potential,and quantitative sudomotor axonal reflex test.In this paper,the pathogenesis of diabetic peripheral neuropathy,neurological pathological changes and applications of electrophysiology technology were reviewed to provide an objective basis for early diagnosis of prediabetic peripheral neuropathy.

Clinical Efficacy of Electroneurography in Acute Facial Paralysis

The estimated incidence of acute facial paralysis is approximately 30 patients per 100000 populations annually. Facial paralysis is an extremely frightening situation and gives extreme stress to patients because obvious disfiguring face may cause significant functional, aesthetic, and psychological disturbances. For stressful patients with acute facial paralysis, it is very important for clinicians to answer the questions like whether or not their facial function will return to normal, how much of their facial function will be recovered, and how long this is going to take. It is also important for clinicians to treat the psychological aspects by adequately explaining the prognosis, in addition to providing the appropriate medical treatment. For decades, clinicians have used various electrophysiologic tests, including the nerve excitability test, the maximal stimulation test, electroneurography, and electromyography. In particular, electroneurography is the only objective measure that is useful in early stage of acute facial paralysis. In this review article, we first discuss the pathophysiology of injured peripheral nerve. And then, we describe about various electrophysiologic tests and discuss the electroneurography extensively.

Potencial visual evocado por padrão reverso com tabuleiro de xadrez em gatos domésticos adultos / Pattern reversal visual evoked potential using checkerboard stimulus in adult domestic cats

O potencial visual evocado por padrão reverso (PVE-PR) é um método objetivo, não invasivo e estabelecido para as investigações funcionais. Este trabalho teve como objetivo a obtenção de dados do PVE-PR com tabuleiro de xadrez em gatos domésticos adultos, além de verificar a influência de diferentes ângulos visuais sobre os picos de tempo implícito e amplitude das ondas N75 e P100. Foram utilizados 13 gatos adultos (2-4 anos de idade), de ambos os sexos. Cada animal foi posicionado 100cm de distância de um monitor de vídeo situado a 17,2º. O estímulo gerado para a formação dos PVEs foi uma onda "quadrada" com a frequência de 6 Hz, apresentados em cinco frequências espaciais (16', 32', 64', 130' e 260'de arco). Os valores médios dos tempos implícitos (ms) e amplitudes (µV) de P100 não foram diferentes estatisticamente e nem estavam correlacionados (r=0,067). Com a mudança de tamanho do ângulo de estímulo apresentado, os picos de tempo implícito e amplitude do P100 apresentaram uma discreta variação. Aos 32' de arco, a amplitude de P100 atingiu seu pico máximo, com 14,94±1,13µV (média±erro padrão da média). N75 não mostrou nenhuma variação de amplitude. Com 16' de arco, o tempo implícito de N75 diminuiu, não havendo correlação com os valores de amplitude (r=0,26). O ângulo visual que desencadeou um maior pico de amplitude e tempo implícito constante para P100, foi o de 32' de arco. Em gatos adultos, um PVE-PR pode ser obtido sem o uso de midriáticos e sedativos, com estímulos subtendidos entre ângulos grandes como 64' e pequenos como 16'.

The pattern reversal visual evoked potential (PR-VEP) is an objective method, stablished for noninvasive functional investigations. This research aimed to obtain data from the PR-VEP with checkerboard in adult domestic cats and the influence of different visual angles on the peak latency and implicit time of waves N75 and P100. It was used 13 adult cats (2-4 years old), of both sexes. Each animal was positioned 100 cm away from a video monitor located at 17.2º. The stimulus generated for the formation of wave VEPs was "square" with the frequency of 6Hz, presented in five spatial frequencies (16 ', 32', 64 ', 130' and 260 'of arc). Mean values of implicit times (ms) and amplitudes (µvolts) of P100 were not statistically different and were not correlated (r=0.067). With the change in size of the angle of stimulus presented, the peak implicit time and amplitude of P100 showed a slight variation. At 32 'of arc amplitude of P100 reached its peak with 14,94±1,13µV (mean±SEM). N75 showed no variation in amplitude. With 16'of arc the implicit time N75 decreased and no correlation with amplitude values was observed (r=0,26). The visual angle that triggered higher peak amplitude and implicit time constant for P100, was 32'of arc. In adult cats, PR-VEP can be obtained without mydriatic and sedatives, with stimuli subtending angles between large as 64' and small as 16 '.

A sedação sobre os potenciais evocados auditivos em cães / The sedation on the auditory brainstem responses in dogs

O potencial evocado auditivo de tronco encefálico (Brainstem Auditory Evoked Potential - BAEP) avalia a atividade elétrica do sistema auditivo, desde a cóclea até o tronco encefálico, permitindo diagnóstico de surdez em cães. Como alguns animais não permitem a obtenção do BAEP sem contenção química, o objetivo deste trabalho foi analisar a influência da sedação com morfina e acepromazinano BAEP de 16 cães com audição normal. Os potenciais foram obtidos antes e durante a sedação com administração intramuscular de morfina (0,5mgkg-1) e acepromazina (0,05mgkg-1). O protocolo de sedação utilizado permitiu contenção efetiva e segurança dos animais. A sedação causou prolongamento nas latências das ondas II, III e intervalos I-III e I-V, mas não dificultou as suas identificações. O uso deste protocolo de sedação não interferiu com a interpretação do potencial evocado e pode ser útil em cães. Pelo que se pode observar na literatura compilada, este é o primeiro estudo avaliando a influência da sedação no BAEP em cães no Brasil.

Brainstem auditory evoked potential (BAEP) reflects the electrical activity along the auditory pathway, from the cochlea to the brainstem, and contributes for the diagnosis of deafness in dogs. BAEP recording may require chemical restraint in some cases, so this study was designed to analyze the impact of sedation with morphine and acepromazine on the BAEP recordings of 16 dogs with normal hearing. BAEPs were recorded before and during sedation with a combination of morphine (0.5mgkg-1) and acepromazine (0.05mgkg-1) given intramuscularly. The protocol employed allowed safe and effective animal restraint. Sedation increased the latency of waves II and III and intervals I-III and I-V but did not interfere with wave identification. and showed to be safe in the dogs tested. Based on the current literature this is the first study which assessed the impact of sedation on BAEPs in dogs in Brazil.