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.

Intercostal nerve mononeuropathy: study of 14 cases

This retrospective study describes 14 cases of intercostal nerve mononeuropathy (INM) found in 5,560 electromyography (EMG) exams performed between January 1991 and June 2004 in our University Hospital. Medical charts of all patients with history of thoracic pain and EMG diagnosis of intercostal mononeuropathy were reviewed. INM was detected in 14 patients; etiology was thoracic surgery in 6 (43%), post-herpetic neuropathy in 4 (28%), probable intercostal neuritis in 2 (14%), lung neoplasia in 1 (7%), and radiculopathy in 1 (7%). From this study, trauma and infection were the main etiologies in intercostal neuropathic pain development. Tricyclic antidepressants and anticonvulsants were the most common therapeutic drugs used.

Este trabalho apresenta estudo retrospectivo de 14 pacientes com mononeuropatia de nervo intercostal (MNI), obtidos dentre 5.560 exames eletromiográficos, realizados de janeiro de 1991 até junho de 2004, em nosso Hospital Universitário. MNI foi encontrada em 14 pacientes, tendo como causas prováveis intervenções cirúrgicas torácicas em 6 (43%), neuropatia por herpes-zoster em 4 (28%), provável neurite de nervo intercostal em 2 (14%), neoplasia pulmonar em 1 (7%) e radiculopatia em 1 (7%). As principais causas de MNI de nosso Serviço são similares às da literatura. Os antidepressivos tricíclicos e anticonvulsivantes foram os fármacos mais utilizados no controle da dor.

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 natural history of carpal tunnel syndrome. A study of 20 hands evaluated 4 to 9 years after initial diagnosis.

Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy. In the last decade several papers have been published on epidemiology, clinical aspects, diagnosis, and treatment, but little is known about its natural history. The objective of this work was to study the natural history of CTS syndrome. From 358 patients with clinical and conduction study diagnosis of CTS, 12 cases were identified that had refused surgical treatment, had not used anti-inflammatory medications, and had not undergone orthopaedic procedures, such as immobilization or anaesthetic infiltration. These 12 patients have 20 compromised hands which have been followed up for between 4 and 9 years. In all cases sensory and motor conduction studies were performed on the median nerve, at the beginning and end of follow-up period. Electrical improvement was marked in 5 hands and slight in 3; there was no significant change in 10, and deterioration in 2. As 8 hands (7 patients) showed improved clinical symptoms and conduction studies over several years, this brings the universally accepted procedure of surgical treatment into doubt.

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.

Effects of ethanol on human visual evoked potentials.

Studies of the effect of ethanol on human visual evoked potentials are rare and usually involve chronic alcoholic patients. The effect of acute ethanol ingestion has seldom been investigated. We have studied the effect of acute alcoholic poisoning on pattern-reversal visual evoked potentials (PR-VEP) and flash light visual evoked potentials (F-VEP) in 20 normal volunteers. We observed different effects with ethanol: statistically significant prolonged latencies of F-VEP after ingestion, and no significant differences in the latencies of the PR-VEP components. We hypothesize a selective ethanol effect on the afferent transmission of rods, mainly dependent on GABA and glutamatergic neurotransmission, influencing F-VEP latencies, and no effect on cone afferent transmission, as alcohol doesn't influence PR-VEP latencies.

Morphological aspects of rabbit masseter muscle after cervical sympathectomy.

The objective of this paper was to study the effect of sympathetic innervation on morphological and histochemical aspects of skeletal muscle tissue. Rabbit masseter muscle was studied using histochemical and immunohistochemical methods for periods of up to 18 months post-sympathectomy. The morphological and enzymatic characteristics of control masseter muscles were similar on both the left and right sides. The main features were muscle fibres with a mosaic pattern and a predominance of type IIa fibres, followed by type I. Type IIb fibres showed very low frequency. Sympathectomized animals showed varying degrees of metabolic and morphological alterations, especially 18 months after sympathectomy. The first five groups showed a higher frequency of type I fibres, whilst the oldest group showed a higher frequency of type IIb fibres. In the oldest group, a significant variation in fibre diameter was observed. Many fibres showed small diameter, atrophy, hypertrophy, splitting, and necrosis. Areas with fibrosis were observed. Thus cervical sympathectomy induced morphological alterations in the masseter muscles. These alterations were, in part, similar to both denervation and myopathy. These findings indicate that sympathetic innervation contributes to the maintenance of the morphological and metabolic features of masseter muscle fibres.

Multimodal evoked potentials and the ovarian cycle in young ovulating women.

There is controversy over how hormonal conditions influence cerebral physiology. We studied pattern-shift visual evoked potentials (PS-VEP), brain stem auditory evoked potentials (BAEP) and short-latency somatosensory evoked potentials (SSEV) in 20 female volunteers at different phases of the menstrual cycle (estrogen phase, ovulatory day and progesterone phase). Statistical analysis showed decreased latencies for P100 (PS-VEP), N19 and P22 (SSEV) waves in the progesterone phase compared with the estrogen phase. There was no significant difference between the estrogen and the ovulation day values. Comparing the three above stages, there were no significant differences in the brainstem auditory evoked potentials. The reduction of the latencies of the potentials generated in multisynaptic circuits provides the first consistent neurophysiological basis for a tentative comprehension of human pre-menstrual syndrome.