Publisher Correction: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.

Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical, electromyographic, histopathological, and molecular findings were evaluated. Clinically affected pigs presented non-dystrophic recessive Hereditary Myotonia. Nucleotide sequence analysis of the entire coding region of the CLCN1 gene revealed the absence of the exons 15 and 16 in myotonic animals. Analysis of the genomic region flanking the deletion unveiled a large intragenic deletion of 4,165 nucleotides. Interestingly, non-related, non-myotonic pigs expressed transcriptional levels of an alternate transcript (i.e., X2) that was identical to the deleted X1 transcript of myotonic pigs. All myotonic pigs and their progenitors were homozygous recessive and heterozygous, respectively, for the 4,165-nucleotide deletion. This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and molecular findings. Moreover, to the best of our knowledge, Hereditary Myotonia has never been associated with a genomic deletion in the CLCN1 gene in any other species.

Brainstem auditory evoked potential testing in Dalmatian dogs in Brazil / Potencial evocado auditivo de tronco encefálico em cães da raça Dálmata no Brasil

The brain stem auditory-evoked potential (BAEP) is an electrophysiologic test that detects and records the electrical activity in the auditory system from cochlea to midbrain, generated after an acoustic stimulus applied to the external ear. The aim of this study is to obtain normative data for BAEP in Dalmatian dogs in order to apply this to the evaluation of deafness and other neurologic disorders. BAEP were recorded from 30 Dalmatian dogs for a normative Brazilian study. Mean latencies for waves I, III, and V were 1.14 (±0.09), 2.62 (±0.10), and 3.46 (±0.14) ms, respectively. Mean inter-peak latencies for I-III, III-V, and I-V intervals were 1.48 (±0.17), 0.84 (±0.12), and 2.31 (±0.18) ms, respectively. Unilateral abnormalities were found in 16.7% of animals and bilateral deafness was seen in one dog. The normative data obtained in this paper is compatible with other published data. As far as we know this is the first report of deafness occurrence in Dalmatian dogs in Brazil...

O potencial evocado auditivo de tronco encefálico (BAEP) é um teste eletrodiagnóstico que detecta e registra a atividade elétrica do sistema auditivo desde a cóclea até o tronco encefálico, gerada após a emissão de um estímulo acústico na orelha externa. O objetivo deste estudo é obter dados normativos para o BAEP em cães da raça Dálmata para usá-lo para detecção de surdez e de outras alterações neurológicas. BAEP foi obtido de 30 cães da raça Dálmata para um estudo normativo no Brasil. As latências médias para as ondas I, III e V foram 1,14ms (±0,09); 2,62ms (±0,10) e 3,46ms (±0,14), respectivamente. A média das latências dos intervalos I-III, III-V e I-V foi 1,48ms (±0,17); 0,84ms (±0,12) e 2,31ms (±0,18), respectivamente. Alteração unilateral foi observada em 16,7% dos animais, e surdez bilateral foi observada em um cão. Os dados normativos obtidos neste trabalho são compatíveis com outros dados já publicados. Segundo a revisão realizada, este é o primeiro relato da ocorrência de surdez em cães da raça Dálmata no Brasil...

Potencial evocado auditivo para diagnóstico de surdez em gato com síndrome vestibular periférica / Auditory evoked potential for deafness diagnosis in a cat with peripheral vestibular syndrome

Potencial evocado auditivo é um método eletrodiagnóstico que permite avaliação funcional das vias auditivas desde a orelha média até o tronco encefálico. O uso desse teste em medicina veterinária é pouco difundido no Brasil. O presente artigo relata o uso do potencial evocado auditivo para detecção de deficiência auditiva unilateral em um gato com síndrome vestibular periférica secundária a otite média.

The brainstem auditory evoked potential is an electrodiagnostic test that allows a functional assessment of the auditory pathways from the middle ear to the brainstem. This test, in veterinary medicine, is not commonly used in Brazil. This paper reports the use of auditory evoked potential for deafness detection in a cat with unilateral peripheral vestibular syndrome secondary to otitis media.

Estudo normativo e avaliação da influência da idade no potencial evocado auditivo em cães sem raça definida / Normative study and evaluation of age influence on Brainstem auditory evoked potentials in mixed breed dogs

O objetivo deste trabalho foi realizar estudo normativo dos potenciais evocados auditivos obtidos de 34 cães sem raça definida e avaliar a influência da idade nos resultados obtidos. Os animais foram divididos em dois grupos de diferentes faixas etárias e o potencial evocado auditivo foi realizado com um estímulo de 85dB. O grupo 1 incluiu 16 cães com idades entre um e oito anos e o grupo 2, 18 animais com idades acima de oito anos. O comprimento e o diâmetro da cabeça foram mensurados e não houve diferença estatística entre os dois grupos. No grupo 1, as médias das latências das ondas I, III e V foram: 1,13; 2,64 e 3,45ms; e dos intervalos I-III, III-V e I-V foram 1,51; 0,81 e 2,32ms, respectivamente. No grupo 2, as médias das latências das ondas I, III e V foram 1,15; 2,62 e 3,55ms; e dos intervalos I-III, III-V e I-V foram 1,47; 0,93 e 2,40ms, respectivamente. As latências observadas neste estudo foram semelhantes a estudos prévios realizados por outros autores. Nos grupos etários analisados e nas condições preestabelecidas deste estudo, a idade influenciou a latência da onda V e, consequentemente, modificou os intervalos III-V e I-V, portanto deve-se considerar essa variante na interpretação dos resultados do BAEP em cães.

The aim of this paper was to obtain normative data of auditory evoked potentials from 34 mixed breed dogs and evaluate the age influence. The animals were divided in two groups of different ages and auditory evoked potential was performed with a 85dB stimulus intensity. Group 1 included 16 dogs between 1 and 8 years of age, and group 2 included 18 dogs with over 8 years of age. The length and head diameter were measured and there was no statistical difference between the two groups. In group 1, mean latencies of waves I, III, and V were 1.13; 2.64, and 3.45ms, and the intervals I-III, III-V, and I-V were 1.51; 0.81, and 2.32 ms, respectively. In group 2, the mean latencies of waves I, III and V were 1.15, 2.62, and 3.55ms, and the intervals I-III, III-V, and I-V were 1.47, 0.93, and 2.40ms, respectively. The latencies observed in this study were similar to previous studies conducted by other authors. It was observed that significant differences were present for wave V and intervals III-V and I-V latencies when comparing groups with different ages, consequently this characteristic must be considered during BAEP result interpretation.

Early pancreas transplant improves motor nerve conduction in alloxan-induced diabetic rats.

The purpose of this study was to assess the temporal relationship between pancreas transplant and the development of electrophysiological changes in the sciatic and caudal nerves of alloxan-induced diabetic rats. Nerve conduction studies were performed in diabetic rats subjected to pancreas transplantation at 4, 12, and 24 weeks after diabetes onset, using non-diabetic and untreated diabetic rats as controls. Nerve conduction data were significantly altered in untreated diabetic control rats up to 48 weeks of follow-up in all time points. Rats subjected to pancreas transplantation up to 4 and 12 weeks after diabetes onset had significantly increased motor nerve conduction velocity with improvement of wave amplitude, distal latency, and temporal dispersion of compound muscle action potential in all follow-up periods (P<0.05); these parameters remained abnormal when pancreas transplantation were performed late at 24 weeks. Our results suggest that early pancreas transplant (at 4-12 weeks) may be effective in controlling diabetic neuropathy in this in vivo model.

Comparison of the effects of barbiturate, benzodiazepine and ketamine on visual evoked potentials in rabbits.

The aim of this study was to compare the effects of barbiturate, benzodiazepine and ketamine on flash-evoked potentials (F-VEP) in adult rabbits. A total of 36 animals were studied, 16 after pentobarbital endovenous (EV) infusion, 10 after midazolam EV administration, and 10 after ketamine EV infusion. Pentobarbital induced triphasic F-VEP, first negative (N1), second positive (P1), third negative (N2) waves, all with large amplitudes and P1 with well-defined morphology. Mean P1 latency was 33ms. Midazolam induced similar but less defined triphasic waves, with mean latency of 27ms. Ketamine induced poliphasic and poorly defined F-VEP, with mean first positive (P1) latency of 27ms. Statistical analysis showed more elongated latency for the pentobarbital group than the midazolam and ketamine groups. The results of this study suggest that the pharmacological effects of pentobarbital and midazolam on GABA neurotransmission in rabbit visual cortex may be different; another neurotransmission system, possibly cholinergic, may be involved. The ketamine effect seen in rabbit visual cortex seems to be different from pentobarbital and midazolam.

Electromyographical, ultrasonographical and morphological modifications in semitendinous muscle after transposition as ventral perineal muscle flap.

The aim of this study was to evaluate modifications occurring in semitendinous muscle after transposition as a ventral perineal muscle flap using electromyography, ultrasonography, and morphological studies. Ten male crossbreed dogs of 3-4 year old were used. The left semitendinous muscle was cut close to the popliteus lymph node, rotated and sutured at the perineal region. The contralateral muscle was considered as control. Motor nerve conduction studies of both sciatic-tibial nerves, and electromyographic and ultrasonographic examinations of both semitendinous muscles were performed before surgery and 15, 30, 60, and 90 days postoperatively. Semitendinous muscle samples were collected for morphological analysis 90 days after surgery. No alterations were observed in clinical gait examinations, or in goniometrical and electroneuromyographical studies in pelvic limbs after surgery. Electromyography demonstrated that the transposed muscle was able to contract, but atrophy was detected by ultrasonography and morphological analysis.

Mononeuropathy of the suprascapular nerve: study of 3 South American cases.

In this work 3 new cases of suprascapular nerve mononeuropathy are described. ENMG diagnosis criteria were: a) normal sensory conduction studies of the ipsolateral ulnar, median and radial nerves; b) bilateral suprascapular nerve latencies with bilateral compound muscle action potential, obtained from the infraspinatus muscle with symmetrical techniques; and c) abnormal neurogenic infraspinatus muscle electromyographic findings, coexisting with normal electromyographical data of the ipsolateral deltoideus and supraspinatus muscles. These 3 cases of suprascapular mononeurpathy were found in 6,080 ENMG exams from our University Hospital. For us this mononeuropathy is rare with a 0.05% occurrence.

Laryngeal electromyography: contribution to vocal fold immobility diagnosis.

Laryngeal Electromyography (LEMG) is a diagnostic test commonly used in patients with vocal fold movement disorder. The aim of this study is to describe LEMG in patients with vocal fold immobility. A total of 55 dysphonic patients with vocal fold immobility diagnosed by laryngeal endoscopy were grouped according to probable clinical cause: 1) unknown; 2) traumatic; or 3) tumoral compression. They were submitted to LEMG by percutaneous insertion of concentric needle electrode. LEMG was conclusive in all patients and showed a majority with peripheral nerve injury. LEMG diagnosed peripheral nerve damage in 25 group 1, 12 group 2, and 11 group 3 patients. LEMG was normal in 4 patients, suggesting cricoarytenoid joint fixation. Central nervous system disorders was suggested in 2 and myopathic pattern in 1. As the major cause of vocal fold immobility is peripheral nerve damage, LEMG is an important test to confirm diagnosis.

Laryngeal electromyography in normal Brazilian population.

Quantitative analysis of normal values of motor unit action potentials duration and amplitude of muscles tireoaritenoideus (TA), cricotireoideus (CT), cricoaritenoideus lateralis (CAL), and cricoaritenoideus posterioris (CAP) was performed in 14 adult normal Brazilian volunteers. The recordings were obtained by percutaneously inserted concentric needle electrode. Different motor unit action potentials were manually selected in each muscle for quantitative computerized analysis of duration and amplitude. The mean values for duration and amplitude were respectively 3.8 ms and 413 microV for TA, 4.9 ms and 585 microV for CT 4.1 ms and 388 microV for CAL and 4.5 ms and 475 microV in CAP. There were no similar reports of normal values of motor unit action potentials in Brazilian subjects.

Laryngeal electromyography: technical features.

Laryngeal Electromyography (LEMG) is an auxiliary diagnostic method used for the comprehension and diagnosis of different neurological diseases that compromise laryngeal function. The most common LEMG technique is the percutaneous insertion of needle electrodes guided by surface anatomical references. We describe techniques for inserting needle electrodes into the tireoaritenoideus (TA), cricotireoideus (CT), cricoaritenoideus lateralis (CAL) and cricoaritenoideus posterioris (CAP) muscles; these are used at UNICAMP laryngology ambulatory, we discuss difficulties found and their proposed solutions. All patients were submitted to otorhinolaryngological, phonoaudiological and laryngeal endoscopy before LEMG. The CAP approach, by digital rotation of the thyroid cartilage was found to be the most difficult, followed by the CAL approach. TA and CT approaches gave no major problems, except with some older and obese patients. A significant complication of the TA approach via thyroid cartilage was a hematoma in one patient which partially obstructed the laryngeal lumen.

The silent period in patients with chronic renal failure undergoing hemodialysis.

Silent period was evaluated in 20 adult male patients with chronic renal failure undergoing hemodialysis. Readings were obtained by supramaximal stimulus to the median nerve, during maximum isometric effort of the abductor pollicis brevis muscle against resistance. Two types of abnormalities were observed, motor neuron hypoexcitability with elongated silent period, and motor neuron hyperexcitability with reduction or absence of silent period. Some abnormalities are probably linked with dialysis duration, but show no correlation to presence or absence of peripheral neuropathy. The silent period alterations described in this study could possibly correlate with some other clinical feature frequently seen in patients with chronic renal failure such as hypereflexia of the deep tendon reflexes.

Blink reflex in end-stage-renal disease patients undergoing hemodialysis.

This study analyses the blink reflex in 20 adult male patients with terminal chronic renal failure undergoing hemodialysis. Abnormalities were found in ten patients (50%), eight of them with conduction studies showing axonal peripheral neuropathy. Dialysis time was longer for patients with blink reflex alterations (median 55.1 months) than for patients with normal blink reflex (median 36.3 months). Different types of early R1 and late R2 component abnormalities were recorded. The late response abnormalities may indicate subclinical functional or anatomical impairment of the low brainstem reticular formation in patients with chronic renal failure.

Síndrome de Garcin relacionada a linfoma näo-Hodgkin / Garcin's syndrome related to non-Hodgkin's lymphoma

A síndrome de Garcin é rara. O objetivo deste trabalho é descrever um caso relacionado a linfoma näo-Hodgkin. Um paciente de 41 anos desenvolveu comprometimento sucessivo de múltiplos nervos cranianos. Do lado direito havia alteraçöes de todos os nervos cranianos, caracterizando a síndrome de Garcin. Exérese de linfonodo revelou linfoma näo-Hodgkin de grandes células, e observou-se infiltraçäo difusa da medula óssea. O líquido cefalorraquiano mostrou pleocitose com 100 por cento de imunoblastos. A tomografia computadorizada de crânio näo revelou massas. Esta é a primeira descriçäo clínica da síndrome de Garcin completa causada por infiltraçäo linfomatosa difusa dos nervos cranianos

O EEG na induficiência renal crônica: I Atividade de fundo em repouso e durante ativaçäo / EEG in chronic renal failure: I background activity in rest and during activation

Examinamos o eletroencefalograma (EEG) de 88 pacientes com insuficiência renal crônica, sendo 80 adultos e 8 crianças, submetidos a diferentes tipos de tratamento como hemodiálise, diálise peritoneal, transplante renal e seguimento em ambulatório. A principal alteraçäo observada foi desorganizaçäo difusa da atividade de fundo. Encontramos, em ordem decrescente de frequência, EEG de baixa voltagem, ondas trifásicas, reaçöes anormais do despertar e ritmo alfa paradoxal. As crianças mostraram um ritmo alfa anormal, e, em nossos pacientes, as alteraçöes induzidas por fotoestimulaçäo intermitente foram mínimas, sendo esta a principal diferença em relaçäo aos outros autores que estudaram o EEG na uremia crônica

O EEG na insuficiência renal crônica: II. atividades paroxísticas / EEG in chronic renal failure: II. paroxismal epileptiform

Os autores descrevem atividades paroxísticas no EEG de pacientes com insuficiência renal crônica. Um paciente apresentou paroxismos epileptiformes na regiäo parietal direita, que precederam crises parciais motoras óculo-clônicas e, depois, acidente vascular cerebral isquêmico localizado na mesma regiäo. Essa foi a principal correlaçäo eletro-clínica encontrada que, entretanto, näo pôde ser observada em outros pacientes. As sessöes de diálise podem melhorar ou piorar os paroxismos epileptiformes

O EEG na insuficiência renal crônica: III. valor prognóstico / EEG in chronic renal failure: III. prognosis

Em 1983 e 1984 realizamos seguimento longitudinal, durante 1 ano, de 15 pacientes com insuficiência renal crônica, sendo 8 em hemodiálise e 7 em diálise peritoneal. As anormalidades do EEG foram catalogadas e arquivadas, e 5 anos depois estudamos os prontuários dos pacientes, para analisar as evoluçöes clínicas que eles apresentaram. Os achados do EEG do idoso, em pacientes jovens com insuficiência renal crônica, ocorreram em pacientes que vieram a falecer. Concluímos que os achados do EEG do idoso na insuficiência renal crônica, em qualquer idade, significam mau prognóstico. Por outro lado, assincronias no EEG estäo associadas a encefalopatia urêmica grave, porém reversível, porque uma paciente com assincronias foi transplantada posteriormente e suas alteraçöes clínicas e eletroencefalográficas reverteram

VIII - Síndrome de Bálint relacionada a epilepsia / Bálint's syndrome related to epilepsy

No presente trabalho os autores descrevem um caso de síndrome de Bálint que apareceu após estado de mal epilético relacionado a uma localizaçåo parietal direita. A evoluçåo benigna, com recuperaçåo completa, ilustra que a síndrome de Bálint pode ser devida a alteraçöes funcionais reversíveis do córtex cerebral

Habituación del reflejo acústico-palpebral en la enfermedad de Parkinson / Habituation of the acoustic-blink reflex in Parkinson's disease

La oclusión palpebral ante un estímulo auditivo sorpresivo es una respuesta refleja [RAP] polisináptica de integración mesencefálica que tiende a desaparecer frente a estímulos repetidos. Este reflejo transcurre a través del núcleo coclear, cuerpo trapezoide, collículo inferior y sus conexiones, y está sujeto a influencias supramesencefálicas. En el estudio presente, se evaluaron electrofisiológicamente 6 individuos normales y 6 pacientes con enfermedad de Parkinson de edades similares. Se aplicaron estímulos tonales registrándose la actividad refleja en el orbicular de los párpados. Se midieron latencia [L], duración [D], amplitud [A] y fases [F] de las respuestas reflejas obtenidas por aplicación de estímulos auditivos a intervalos randomizados, y luego de un período de reposo, se midió el número de respuestas obtenidas [R] aplicando los estímulos a una frecuencia fija de 0,2 Hz. No se observaron diferencias significativas en L,D,A y F, viéndose en cambio, un mayor número de R en los enfermos de Parkinson. Esta observación sugiere una alteración en la habituación a los estímulos auditivos posiblemente debida a fallas en la inhibición de este reflejo por compromiso de estructuras supramesencefálicas