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Electrical stimulation of the midbrain increases heart rate and arterial blood pressure in awake humans.

Electrical stimulation of the hypothalamus, basal ganglia or pedunculopontine nucleus in decorticate animals results in locomotion and a cardiorespiratory response resembling that seen during exercise. This has led to the hypothesis that parallel activation of cardiorespiratory and locomotor systems from the midbrain could form part of the 'central command' mechanism of exercise. However, the degree to which subcortical structures play a role in cardiovascular activation in awake humans has not been established. We studied the effects on heart rate (HR) and mean arterial blood pressure (MAP) of electrically stimulating the thalamus and basal ganglia in awake humans undergoing neurosurgery for movement disorders (n = 13 Parkinson's disease, n = 1 myoclonic dystonia, n = 1 spasmodic torticollis). HR and MAP increased during high frequency (> 90 Hz) electrical stimulation of the thalamus (HR 5 +/- 3 beats min(-1), P = 0.002, MAP 4 +/- 3 mmHg, P = 0.05, n = 9), subthalamic nucleus (HR 5 +/- 3 beats min(-1), P = 0.002, MAP 5 +/- 3 mmHg, P = 0.006, n = 8) or substantia nigra (HR 6 +/- 3 beats min(-1), P = 0.001, MAP 5 +/- 2 mmHg, P = 0.005, n = 8). This was accompanied by the facilitation of movement, but without the movement itself. Stimulation of the internal globus pallidus did not increase cardiovascular variables but did facilitate movement. Low frequency (< 20 Hz) stimulation of any site did not affect cardiovascular variables or movement. Electrical stimulation of the midbrain in awake humans can cause a modest increase in cardiovascular variables that is not dependent on movement feedback from exercising muscles. The relationship between this type of response and that occurring during actual exercise is unclear, but it indicates that subcortical command could be involved in 'parallel activation' of the locomotor and cardiovascular systems and thus contribute to the neurocircuitry of 'central command'.

Adult↗

Fatal encephalitis caused by Dactylaria constricta var. gallopava in a snowy owl chick (Nyctea scandiaca).

Dactylaria constricta var. gallopava (Cooke) Salkin et Dixon was found to cause fatal encephalitis in a 28-day-old, captivity-bred snowy owl chick (Nyctea scandiaca). The previously healthy bird suddenly developed ataxia, severe torticollis, and extensor rigidity of the legs. Since the animal did not improve with antibiotic or vitamin-mineral supplement therapy, the chick was euthanized 5 days after the onset of neurologic signs. At necropsy, all tissues except the brain were grossly normal. Cultures inoculated with blood from the brain and heart yielded a dematiaceous mould that subsequently proved to be D. constricta var. gallopava. This is the first report of natural central nervous system infection caused by D. constricta var. gallopava in a snowy owl.

Animals↗

Spinal deformity in patients born with oesophageal atresia and tracheo-oesophageal fistula.

Spinal deformity was present in 58 (19%) of 302 patients born with oesophageal atresia and fistula when examined at review. This was present in 24 (47%) of 51 patients with vertebral anomalies and 34 (14%) of 251 patients with normal vertebrae. Scoliosis was present in 21 patients with vertebral anomalies, torticollis in two, and lordosis in one. Two thirds of the patients with congenital scoliosis have had or are likely to require operation, compared with five patients with non-congenital scoliosis. Scoliosis associated with mixed vertebral anomalies in the lower thoracic spine had the worst prognosis. The medical records of a further 64 patients who had survived operation but who could not be traced were reviewed, and indicated that four had had congenital vertebral anomalies but none had a spinal deformity. We recommend early detection of vertebral anomalies in this group and careful follow up of patients with these abnormalities.

Abnormalities, Multiple↗

Unexplained head tilt following surgical treatment of congenital esotropia: a postural manifestation of dissociated vertical divergence.

BACKGROUND: Strabismus surgery for congenital esotropia can be complicated by the development of a postoperative head tilt. PURPOSE: To determine the pathophysiology of acquired head tilting following horizontal realignment of the eyes in children with congenital esotropia. MATERIALS AND METHODS: Retrospective analysis of nine children with congenital esotropia who developed unexplained head tilts following horizontal realignment of the eyes. RESULTS: Shortly after strabismus surgery, each child developed a head tilt in association with asymmetrical dissociated vertical divergence (DVD). Five children maintained a head tilt toward the side of the fixing eye (group 1), which did not serve to control the DVD. Four children maintained a head tilt toward the side of the hyperdeviating eye, which served to control the DVD (group 2). Children in group 2 had earlier horizontal muscle surgery and developed better stereopsis than those in group 1, suggesting that the higher degree of single binocular vision and stereopsis in these children may have led to a compensatory torticollis to control an asymmetrical DVD. CONCLUSIONS: The onset of an unexpected head tilt after congenital esotropia surgery is usually a postural manifestation of asymmetrical DVD. In this setting, a head tilt toward the side of the fixing eye corresponds with a postural manifestation of the underlying central vestibular imbalance that produces DVD, while a head tilt toward the side of the hyperdeviating eye serves to counteract the hyperdeviation and stabilise binocular vision.

Child, Preschool↗

Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study.

We studied two patients with a peculiar congenital disturbance of ocular motility in which the horizontal movements of the left eye were always opposite the normal expected direction. The common features were: (1) congenital monocular adduction palsy and exotropia of the left eye; (2) simultaneous abduction of both eyes (divergence) on attempted dextroversion; (3) ocular torticollis, head turned to the right; and (4) inverse nystagmus of the left eye, occurring spontaneously as well as during optokinetic and vestibular testing. Clinical and electrooculographic findings suggested a close relationship to Duane's retraction syndrome and supported the concept that innervational mechanisms were responsible for the phenomenon.

Adult↗

Why blame the obstetrician? A review.

Because of superficial thinking obstetricians have been blamed unjustifiably for causing brain damage, cerebral palsy, mental subnormality, congenital torticollis, and facial palsy. It is essential to look behind obvious difficulties in labour, such as abnormal presentation or anoxia, to the underlying causes, which are often genetic or social, or concern other prenatal factors.

Adult↗

Multicore disease in twins.

Multicore disease in identical twin boys presented in infancy as generalized weakness and torticollis. Motor milestones such as sitting, standing, and running were delayed, although by the age of 6 years marked improvement in muscle strength had occurred. Serum enzymes were normal. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity. Ultrastructurally, these areas were characterized by myofilament disruption and Z-band streaming.

Child↗

Essential tremor in Rochester, Minnesota: a 45-year study.

A 45-year (1935-79) retrospective study of essential tremor based on original medical records on residents of Rochester, Minnesota, is presented. The age and sex adjusted incidence for the most recent 15 year period was 23.7 per 100 000 for US white population. The prevalence rate, age and sex adjusted to 1970 US white population on January 1, 1979 was estimated at 305.6 per 100 000. Survival after diagnosis of essential tremor is comparable to age and sex matched population of West North Central United States. Mean age at diagnosis was 58 (range 2-96) years. Age adjusted annual incidence rate was not different in males (18.3/100 000) and females (17.1/100 000). Functional handicap was reported by four (1.5%) of the 266 incidence cases in school, 13 (5%) cases at work and five cases (2%) retired prematurely. Excessive use of alcohol was noted in 16% and 6% were diagnosed as alcoholic. Torticollis was diagnosed in 3% cases and an additional diagnosis of Parkinson's disease after the index date was made in 2% of incidence cases. Subsequent emergence of Parkinsonism was regarded as incidental. Diagnosis of hypertension was made at some time in 30% of incidence cases during the period (mean 37 years) for which the medical records were available. Risk of hypertension after onset of essential tremor in the cases was not different from that in a control group.

Adolescent↗

The relationship between eye-winking tics, frequent eye-blinking and blepharospasm.

A family is reported in which three generations were affected with eye-winking tics and/or blepharospasm. The proband developed eye-winking tics in childhood and then developed excessive blinking progressing to blepharospasm by the age of 21 years. His mother presented with Meige's syndrome and spasmodic torticollis at the age of 59 years; his uncle had blinked excessively from his early forties. His eldest son developed an eye-winking tic with facial grimacing at the age of 8 years, and in another son, a self-limiting period of eye-blinking occurred at the age of 4 years. The recovery cycle of the blink reflex was abnormal in all three generations. Three other children with eye-winking tics have a parent or close relative with frequent eye-blinking or blepharospasm. Five patients with adult-onset blepharospasm or Meige's syndrome are also described who had excessive eye-blinking dating back to childhood. It is suggested that eye-winking tics, frequent blinking and blepharospasm may share common pathophysiological mechanisms; the clinical expression may be age-related.

Adolescent↗

Symptomatic and functional outcome of surgical treatment of cervical dystonia.

OBJECTIVES: Previous studies of surgical treatment for cervical dystonia have reported highly variable rates of postoperative symptomatic benefit and morbidity. Little is known about functional improvement and long term results. This study evaluates the symptomatic and functional outcome of surgical treatment of cervical dystonia in a consecutive series of 46 patients. METHODS: The most affected muscles were selected for denervation after clinical examination and confirmation by four channel EMG studies. Surgical treatment, aiming at selective elimination of pathological activity while preserving normal motor function and avoiding side effects, was achieved by using a broad scope of techniques including intradural denervation, extradural denervation, and myotomy. Rather than carrying out standard operations, the treatment was tailored to the needs of the patient according to the individual pattern of dystonic activity. Long term benefit was assessed with a global outcome score, and a modified Toronto western spasmodic torticollis rating scale (TWSTRS) in those 34 patients who were available for a recent follow up evaluation. RESULTS: The 46 patients underwent a total of 70 procedures with intradural approaches in 33 instances, extradural approaches in 21, and muscle sections (singly or combined) in 22 instances. Transient mild postoperative side effects occurred in 10% of the procedures. The mean duration of long term follow up was 6.5 years. The global outcome was rated as excellent in nine patients (21%), as marked in 12 (27%), as moderate in nine (21%), as mild in nine (21%), and as no improvement in five (11%). A persistent side effect consisting of mild difficulty with balance was noted in one case. There were highly significant changes of the preoperative and postoperative mean values for almost all TWSTRS subscores for severity of cervical dystonia, functional disability, and pain. Patients with excellent outcome underwent a higher number of surgical procedures on average than those patients who achieved no benefit. CONCLUSIONS: Surgical treatment tailored to the specific pattern of dystonic activity in the individual patient is a valuable alternative in the long term management of cervical dystonia.

Adolescent↗

Clinical features and natural history of axial predominant adult onset primary dystonia.

The clinical features and natural history of 18 patients with adult onset axial predominant severe truncal primary dystonia are presented. The mean age of onset was 41 (42 for men, 39 for women) and there was a higher proportion of men (10:8). Analysis of their clinical features and follow up over three to five years or more showed that these patients generally conform to the characteristics of other types of adult onset primary dystonias. They tended to remain focal although there could be an initial contiguous spread, sometimes beginning in the craniocervical region and spreading axially or, rarely, vice versa. If spread occurred, involvement of the head, neck, and arms was mild in comparison with the severe dystonia of the trunk. However, in none of the patients with craniocervical or truncal onset did the dystonia spread to involve the legs. More than a third (seven of 18) of the patients had a prior history of injury at the site subsequently affected by dystonia. Treatment response to various drugs overall was poor but a third of the patients improved on treatment either with triple therapy (a combination of tetrabenazine, pimozide, and an anticholinergic drug) or high dose anticholinergic drugs alone. Severe depression occurred in 33% of patients, mainly due to the negative personal image arising from their disfiguring dystonia. None of the patients had a family history of dystonia and at the moment it is unclear whether these patients with sporadic axial dystonia are non-genetic phenocopies or are a manifestation of one or more of the genes that cause generalised dystonia or torticollis.

Adult↗

Primary torsion dystonia: the search for genes is not over.

A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.

Adolescent↗

Prospective study of swallowing function in patients with cervical dystonia undergoing selective peripheral denervation.

OBJECTIVE: To characterise swallowing function in patients with cervical dystonia with botulinum toxin treatment failure, before and after selective peripheral denervation surgery. METHODS: Twelve patients with cervical dystonia had a thorough examination including standardised assessment for cervical dystonia, scoring of subjective dysphagia, and videofluoroscopic swallow. Videofluoroscopy was scored by consensus opinion between a speech and language therapist and an independent blinded radiologist using a validated scoring system. RESULTS: Seven patients with cervical dystonia experienced no subjective dysphagia either before or after surgery, although in all these patients there was objective videofluoroscopic evidence of underlying mild to moderate oropharyngeal dysphagia preoperatively and postoperatively. The most common finding was delayed initiation of swallow. Three other patients, also without subjective dysphagia before surgery, developed postoperative dysphagia. In these patients, videofluoroscopy showed a delayed swallow reflex before surgery, which was worse postoperatively in two. The remaining two patients had mild subjective dysphagia before surgery that improved postoperatively in one and deteriorated in the other. In the first, videofluoroscopy was normal preoperatively and postoperatively, and in the second, oral bolus preparation was moderately abnormal preoperatively and swallow initiation was delayed postoperatively. Mean subjective dysphagia scores did not change significantly. Apart from a significant improvement of tongue base retraction, videofluoroscopic scores were not significantly different after surgery. Postoperatively there was significant improvement of overall cervical dystonia severity and abnormal head rotation in the group as a whole. There was no correlation between age, duration of symptoms of cervical dystonia, preoperative or postoperative cervical dystonia severity, subjective dysphagia scores, or videofluoroscopic scores. However, in the five patients with persisting anterior sagittal head shift as part of the torticollis, tongue base retraction was less likely to improve after surgery compared with those without head shift. CONCLUSION: Surgical denervation of dystonic neck muscles, leading to improved neck posture, can also improve tongue base retraction, which is a key component of normal bolus propagation. However, delayed swallow initiation, a common feature in patients with cervical dystonia, can be further compromised by surgery, leading to subjective dysphagia. In general, selective peripheral denervation seems to be a safe procedure with no major compromise of swallowing function.

Adult↗

Calcified thoracic disc with herniation of the nucleus pulposus in a child.

A twelve year old boy presented with acute cervical and interscapular pain, torticollis and low grade fever. The neurological examination was normal. Roentgenograms showed calcification of the T3-T4 disc and posterior herniation of the nucleus pulposus was demonstrated by computed tomography. A rapid and dramatic amelioration of the symptoms was produced by treatment with a non-steroidal anti-inflammatory drug. Intervertebral disc calcification in childhood is an uncommon and usually benign condition. Its clinical and radiological features are discussed in the light of the relevant literature.

Calcinosis↗

Isolation of a virus serologically related to the bluetongue group from an outbreak of haemorrhagic disease among exotic deer in Saudi Arabia.

In February 1991 a severe haemorrhagic disease affected exotic deer aged over six months in the Al-Hofuf area of the eastern region of Saudi Arabia. The morbidity rate was 40 per cent and the case fatality rate was 60 per cent. The clinical signs were high temperature (up to 41.5 degrees C), nasal discharge, slight salivation and lacrimation, congestion of the conjunctivae, torticollis, tremors when trying to stand, recumbency and coma leading to death. Post mortem examination revealed a severe haemorrhagic disease. A virus, serologically related to the bluetongue serogroup, was isolated from the deer. Sheep and goats kept on the same farm did not show any clinical signs. The epidemiology of the outbreak is discussed.

Animals↗

Comparative virulence and immunodiffusion analysis of Petriellidium boydii (Shear) Malloch strains isolated from feedlot manure and a human mycetoma.

The virulence to mice of a Petriellidium boydii strain isolated from feedlot manure was compared with that of a strain from a human mycetoma. Washed spores suspended in 5% hog gastric mucin were injected intraperitoneally into non-inbred female albino Swiss mice. In 21 days, the mycetoma strain killed 95% of the test animals whereas injection of eight times as many feedlot strain spores resulted in only 28% mortality. A progressive, exclusively sinistral (leftsided) torticollis was the most obvious symptom of experimental petriellidiosis. Mycelia bearing annellospores were observed in PAS-stained sections of most internal organs, including the brains, of the test animals. Immunodiffusion analyses were conducted on soluble antigen preparations with concentrated antisera produced in rabbits using live spore suspensions. The two strains contained common antigen but the proportions of two were significantly different.

Animals↗

Ear acupuncture using semi-permanent needles: acceptability, prospects and problems in Nigeria.

Ear acupuncture performed with indwelling auricular semi-permanent (ASP) needles, was used for the treatment of musculoskeletal pain and stiffness in 55 Nigerians. The male patients were initially reluctant to have an ASP needle stuck in their auricle, because they feared that the needle would attract embarrassing comments. No female objected to the use of these needles. The longest time an ASP needle remained in situ was 28 days (in a male), while the shortest time was 2 days. There was no associated ear lobe infection or scarification. All seventeen patients with acute torticollis had significant relief of pain and stiffness within 24 hours, scoring less than 25% (residual pain) on the visual analogue scale (VAS). Contrary to speculation auriculo acutherapy using the indwelling needles is acceptable to the Nigerian (male and female). The tropical weather does not necessarily predispose to infection at the site of needle, insertion, provided the area is kept dry. The technique is useful for the relief of musculoskeletal pain and stiffness, and permits the patient to continue self acutherapy at home without the need to return to the clinic. However, these needles are disposable and have to be imported. There is therefore the problem of availability.

Acupuncture Therapy↗

Three-dimensional eye-head coordination after injection of muscimol into the interstitial nucleus of Cajal (INC).

The interstitial nucleus of Cajal (INC) is thought to be the "neural integrator" for torsional/vertical eye position and head posture. Here, we investigated the coordination of eye and head movements after reversible INC inactivation. Three-dimensional (3-D) eye-head movements were recorded in three head-unrestrained monkeys using search coils. INC sites were identified by unit recording/electrical stimulation and then reversibly inactivated by 0.3 mul of 0.05% muscimol injection into 26 INC sites. After muscimol injection, the eye and head 1) began to drift (an inability to maintain stable fixation) torsionally: clockwise (CW)/counterclockwise (CCW) after left/right INC inactivation respectively. 2) The eye and head tilted torsionally CW/CCW after left/right INC inactivation, respectively. Horizontal gaze/head drifts were inconsistently present and did not result in considerable position offsets. Vertical eye drift was dependent on both vertical eye position and the magnitude of the previous vertical saccade, as in head-fixed condition. This correlation was smaller for gaze and head drift, suggesting that the gaze and head deficits could not be explained by a first-order integrator model. Ocular counterroll (OC) was completely disrupted. The gain of torsional vestibuloocular reflex (VOR) during spontaneous eye and head movements was reduced by 22% in both CW/CCW directions after either left or right INC inactivation. Our results suggest a complex interdependence of eye and head deficits after INC inactivation during fixation, gaze shifts, and VOR. Some of our results resemble the symptoms of spasmodic torticollis (ST).

Animals↗