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PubMed1995

Saccadic eye movements in hyperekplexia.

Hyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem. The pulse generator of horizontal saccadic eye movements is localized in the pontine paramedian reticular formation. Measurements of horizontal visually evoked random saccades, antisaccades, and saccades toward remembered targets were performed in seven patients with familial hyperekplexia and seven health age-matched controls. The peak velocity of all three kinds of saccades was reduced (p < 0.0001) compared with that of controls. Latencies were marginally longer in the patient group (p = 0.0486). Saccadic gains did not differ between patients and controls. The ability to make antisaccades, saccades toward remembered targets, and the ability to suppress reflex saccades are similar in patients and controls. These data suggest that the origin of the excessive startle response is probably more due to a different modulation in the brainstem than to altered cortical influence.

Acoustic Stimulation↗
PubMed2007

Urinary retention and sympathetic sphincter obstruction in axonal Guillain-Barré syndrome.

A 62-year-old woman with axonal Guillain-Barré syndrome developed weakness and urinary retention simultaneously. The retention failed to recover for 10 months even after she regained the ability to walk. The patient exhibited no postural hypotension. Videourodynamics showed that the retention was caused not by the bladder paralysis but rather by internal (sympathetic) sphincter obstruction, which is extremely uncommon in peripheral neuropathies. We started the patient on an alpha-adrenergic antagonist, urapidil, at 30 mg/day, and this led to successful relaxation of the urethra and reduced the postvoid residual from 200 ml to less than 30 ml. The underlying mechanisms of urinary retention in our patient appeared to involve hyperactive lumbosacral sympathetic nerves. Urinary retention and sympathetic sphincter obstruction can thus be features of axonal Guillain-Barré syndrome.

Adrenergic alpha-Antagonists↗
PubMed2001

Involuntary detrusor contractions: correlation of urodynamic data to clinical categories.

Data regarding the prevalence and urodynamic characteristics of involuntary detrusor contractions (IDC) in various clinical settings, as well as in neurologically intact vs. neurologically impaired patients, are scarce. The aim of our study was to evaluate whether the urodynamic characteristics of IDC differ in various clinical categories. One hundred eleven consecutive neurologically intact patients and 21 consecutive neurologically impaired patients, referred for evaluation of persistent irritative voiding symptoms, were prospectively enrolled. All patients were presumed by history to have IDC, and underwent detailed clinical and urodynamic evaluation. Based on clinical evaluation, patients were placed into one of four categories according to the main presenting symptoms and the existence of neurological insult: 1) frequency/urgency; 2) urge incontinence; 3) mixed stress incontinence and irritative symptoms; and 4) neurogenic bladder. IDC was defined by detrusor pressure of > or = 15 cm H2O whether or not the patient perceived the contraction; or < 15 cm H2O if perceived by the patient. Eight urodynamic characteristics of IDC were analyzed and compared between the four groups. IDC were observed in all of the neurologically impaired patients, compared with 76% of the neurologically intact patients (P < 0.001). No correlation was found between amplitude of IDC and subjective report of urgency. All clinical categories demonstrated IDC at approximately 80% of cystometric capacity. Eighty-one percent of the neurologically impaired patients, compared with 97% of the neurologically intact patients, were aware of the IDC at the time of urodynamics (P < 0.04). The ability to abort the IDC was significantly higher among continent patients with frequency/urgency (77%) compared with urge incontinent patients (46%) and neurologically impaired patients (38%). In conclusion, when evaluating detrusor overactivity, the characteristics of the IDC are not distinct enough to aid in differential diagnosis. However, the ability to abort IDC and stop incontinent flow may have prognostic implications, especially for the response to behavior modification, biofeedback, and pelvic floor exercise.

Female↗
PubMed2005

Botulinum A toxin injections into the detrusor: an effective treatment in idiopathic and neurogenic detrusor overactivity?

AIMS: To assess and compare the effect of botulinum A toxin (BTX-A) injections into the detrusor in idiopathic and neurogenic detrusor overactivity resistant to anticholinergic treatment. PATIENTS AND METHODS: In a prospective study, 11 patients with idiopathic and 11 with neurogenic detrusor overactivity resistant to anticholinergic treatment were injected with 300 U of BTX-A (Botox) into the detrusor. Clinical and urodynamic parameters were assessed before and after BTX-A injections. RESULTS: In idiopathic as well as in neurogenic detrusor overactivity, median daytime frequency decreased significantly from 11 to 4 (P = 0.004) and 12 to 5 (P = 0.001), median nocturia from 3 to 1 (P = 0.004) and 3 to 1 (P = 0.001), and median number of used pads from 5 to 0 (P = 0.001) and 5 to 0 (P = 0.002), respectively. There was a significant increase in median maximum cystometric capacity from 220 to 340 ml (P = 0.001) and 190 to 410 ml (to instead of) (P = 0.001), median bladder compliance from 20 to 55 ml/cm H(2)O (P = 0.001) and 23 to 60 ml/cm H(2)O (P = 0.004) and median post void residual from 10 to 140 ml (P = 0.002) and 30 to 240 ml (P = 0.002), respectively. Median maximum detrusor pressure decreased significantly from 45 to 29 cm H(2)O (P = 0.002) and 40 to 24 cm H(2)O (P = 0.002), and median detrusor pressure at maximum flow rate from 30 to 14 ml/sec (P = 0.001) and 38 to 21 ml/sec (P = 0.016), respectively. Due to post void residuals >150 ml following BTX-A injections, de novo clean intermittent self-catheterization was necessary in nine patients (four with idiopathic and five with neurogenic detrusor overactivity) and in one patient (with idiopathic detrusor overactivity) a suprapubic catheter was placed. The effect of BTX-A injections lasted for a median time of 5 months in both idiopathic and neurogenic detrusor overactivity. There was no significant difference in idiopathic compared to neurogenic detrusor overactivity in regard to clinical and urodynamic parameters assessed before and after BTX-A injections. CONCLUSIONS: BTX-A injections into the detrusor have a significant and comparable but temporally limited effect in idiopathic and neurogenic detrusor overactivity resistant to anticholinergic treatment.

Adult↗
PubMed2005

Chronic pudendal nerve neuromodulation in women with idiopathic refractory detrusor overactivity incontinence: results of a pilot study with a novel minimally invasive implantable mini-stimulator.

AIMS: To assess the results of chronic pudendal nerve neuromodulation with a novel technique in a pilot study on women with idiopathic refractory detrusor overactivity incontinence. MATERIALS AND METHODS: A percutaneous screening test (PST) was performed in patients with urodynamically demonstrated detrusor overactivity incontinence. Such a test includes the performance of a cystometrogram without and with percutaneous pudendal nerve stimulation and is considered positive if stimulation results in a more than 50% increase in the bladder volume at the first involuntary detrusor contraction or the maximum cystometric capacity. Patients with a positive PST qualified for the implantation of a mini-neurostimulator with an integrated electrode, a so-called bion(R), adjacent to the pudendal nerve at Alcock's Canal. Five-day voiding-incontinence diaries were the main tool for the evaluation of therapy. RESULTS: A PST was performed in 14 women. Six patients responded positively and received a bion. The degree of incontinence decreased significantly in this group, which also included patients in whom sacral neuromodulation had failed. There were no severe adverse events. CONCLUSIONS: Chronic pudendal nerve stimulation may reduce the degree of detrusor overactivity incontinence, even in patients in whom sacral neuromodulation fails. Bion therapy is relatively simple and minimally invasive and is well tolerated by the patient.

Adult↗
PubMed2006

Event driven electrical stimulation of the dorsal penile/clitoral nerve for management of neurogenic detrusor overactivity in multiple sclerosis.

AIMS: The aim of this study was to evaluate the effect of automatic event driven electrical stimulation on the dorsal penile/clitoral nerve for management of neurogenic detrusor overactivity in patients suffering from Multiple Sclerosis. METHODS: A total of 10 patients participated in the study. Detrusor pressure was recorded during physiological filling of the bladder and electrical stimulation was applied with surface electrodes whenever the detrusor pressure exceeded 10 cm H(2)O. RESULTS: In seven of the eight patients, where neurogenic detrusor overactivity was observed an average of 12 detrusor contractions could be inhibited by stimulation. In one patient, however, stimulation failed to inhibit the detrusor contractions. The average increase in bladder volume from first suppressed detrusor contraction until leakage was 94% (range: 22-366%). On average, the time from first suppressed contraction until leakage was 15 min and 50 sec (range: 4 min 58 sec-32 min 5 sec) with an average physiological filling rate of 8 ml/min. Urgency was effectively suppressed at the onset of stimulation. CONCLUSIONS: The results indicate that involuntary detrusor contractions in patients with multiple sclerosis can effectively be inhibited with event driven stimulation, hereby improving bladder capacity and reducing the number of incontinence episodes. However, the used method for detecting detrusor contractions is not suitable in a chronic setting and alternative techniques needs to be investigated if stimulation should be applied automatically.

Adult↗
PubMed1994

Swallowing/ventilation interactions during oral swallow in normal children and children with cerebral palsy.

Many children with cerebral palsy (CP) suffer from feeding disorders. Twenty children with spastic CP and 20 neurologically normal children (age range 6.2-12.9 years) were monitored with ultrasound imaging of the oral cavity synchronized with surface electromyographic (EMG) recordings of masseter and infrahyoid muscles and respiratory inductance plethysmograph (RIP) recordings during feeding tasks. A lip-cup contact detector signaled contact of the drinking cup on the lip during liquid tasks. Children with CP required more time than normals for collection and organization of 5 ml and 75 ml liquid boluses for swallowing. The ventilatory preparation phase, recovery to baseline resting ventilatory pattern after swallowing, and total time for task completion were longer in children with CP for 5-ml and 75-ml tasks. The interval from lip-cup contact until alteration of ventilation from baseline resting ventilatory pattern was longer for children with CP during 75-ml tasks but not for 5-ml tasks. The interval from completion of the task-related cookie swallow until initiation of the next swallow was longer in children with CP than in normal children. These data provide evidence that children with CP manage solid boluses more easily than liquid boluses and small liquid boluses more easily than large liquid boluses. This investigation statistically confirms empirically based recommendations that children with CP be allowed more time to complete feeding tasks and consume small volume drinks rather than large volume drinks.

Cerebral Palsy↗
PubMed1981

The Weaver syndrome: a rare type of primordial overgrowth.

A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature- referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.

Abnormalities, Multiple↗
PubMed1993

Severe hepatic failure occurring with T61 ingestion in an attempted suicide. Early recovery with the use of intravenous infusion of reduced glutathione.

A case of acute hepatic failure following ingestion of the veterinary euthanasia drug T61 is described. Presenting symptoms were drowsiness, disorientation, muscle hypertonia, and upper limb myoclonus, which faded within a few hours. Two days later, acute liver failure occurred, manifested as encephalopathy, jaundice, and a severe coagulopathy. The hepatic damage was thought to be due to the solvent dimethylformamide, which is the only known hepatotoxin included in the preparation utilized in the suicide attempt. High-dose (1.2 g/day) intravenous reduced glutathione was administered, with a rapid improvement of liver function. The patient was discharged after 17 days. Normalization of all liver function tests was achieved within two months. The favorable outcome in this case stands in contrast to the report of a previous case of lethal T61-induced hepatic failure. Although a different amount of dimethylformamide was ingested in each case (0.45 vs 0.60 ml/kg body wt) and individual differences in susceptibility to the effects of the hepatotoxic agent may have played a major role in these two cases, it is not unlikely that the infusion of high doses of glutathione to our patient contributed to her survival and hepatic recovery.

Adult↗
PubMed2003

[Antibody-induced failure of botulinum toxin therapy].

Botulinum toxin (BT) has been used with great success in a large number of medical specialities. In some patients, however, formation of antibodies against BT (BTAB), with therapy failure (ABTF) occurs. Risk factors for ABTF are the amount of BT given at each injection series and the duration of the intervals between injection series. Treatment time and cumulative BT dose as well as patient age and gender are not independent risk factors. BTAB titres drop spontaneously after cessation of BT therapy, but latencies are too long to be compatible with a clinically effective therapy. Once these titres have dropped, BT therapy can be restarted using improved parameters and improved BT preparations with lower antigenicity. Increasing the BT dosage can be successful for overcoming ABTF when BTAB titres are low and target muscle responses are only moderately reduced. The use of alternative BT type A preparations fails to overcome ABTF. Alternative BT types such as types B and F are initially successful in ABTF but stimulate the formation of antibodies against the alternative BT types after few applications. When type B is used, substantial systemic anticholinergic side effects can occur. Prevention of BTAB formation is of paramount importance. Risk factors for BTAB formation have to be taken into account when planning BT therapy. The most interesting perspective, however, seems to be the development of new BT preparations with improved specific potency and reduced antigenicity.

Antibodies↗
PubMed2005

[Pathophysiology of urge, stress, and mixed incontinence].

According to the new ICS classification, urinary incontinence is subdivided by symptomatic, clinical, and urodynamic criteria. Understanding the pathophysiological interactions is important to find the correct diagnosis. Disturbances in bladder storage include urge incontinence due to neurogenic or non-neurogenic (idiopathic) detrusor hyperactivity as well as stress urinary incontinence caused by an insufficient urethral closure mechanism due to reduced pressure transmission (active-passive), hypotonic urethra, hyporeactivity of sphincter musculature, or involuntary relaxation of the urethra. Stress and urge incontinence can occur in combination and then be defined as mixed incontinence.

Diagnosis, Differential↗
PubMed2001

Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles.

The aim of the present study was to investigate the contribution of reciprocal inhibition to muscle tone by examining the transmission in the reciprocal inhibitory pathway in patients with a known defect in the glycine receptor. The study was performed in eight patients with hereditary hyperekplexia, six with the major form and two with the minor form of the disease. A mutation in the alpha1-subunit of the glycine receptor had been demonstrated in the patients with the major form, whereas no mutation was seen in the patients with the minor form. Disynaptic reciprocal inhibition, which is presumed to be mediated by glycine, was not seen in the patients with the major form of the disease, while it could be evoked in the patients with the minor form of the disease. Presynaptic inhibition, which is presumed to be mediated by GABA, was seen in both types of patients. It is concluded that the major form of hereditary hyperekplexia is associated with impaired transmission in glycinergic reciprocal inhibitory pathways. The findings demonstrate the importance of reciprocal inhibition for the muscle tone in man, and it is suggested that the impaired reciprocal inhibition seen in patients with a defect in the glycine receptor may contribute to the increased muscle stiffness that is observed in these patients.

Adult↗
PubMed2005

Tight hamstring syndrome and extra- or intraspinal diseases in childhood: a multicenter study.

Tight hamstrings syndrome (THS) has been attributed to a number of disorders. Most authors argue that tight hamstring syndrome is determined in the majority of cases by a protruding or slipped vertebral disc. The term "disc related tight hamstring syndrome" is usually used to describe the condition. However, tight hamstring syndrome in childhood can also be an initial symptom of a usually severe disease. We reviewed retrospectively 102 children who had presented to our clinics with tight hamstring syndrome in the past 22 years (between 1980 and 2001). To our knowledge, this study includes the largest number of patients with tight hamstring syndrome analysed so far. Seventy four children (73%) suffered from severe underlying diseases. In more than one-third of all THS cases (38 of 102 cases; 37%), we observed intra- or extraspinal tumorous alterations. In 15% of the cases (15 of 102), osteomyelitis or spondylodiscitis was diagnosed. Only in 27% of the cases (28 of 102), disc protrusion, one of the commonly known underlying diagnoses (14 cases), or higher-grade spondylolisthesis/spondyloptosis (14 cases) were the inciters. Our results suggest that tight hamstring syndrome in childhood can be an initial symptom of an associated, usually severe disease. We conclude that therefore further diagnostic evaluation is required when tight hamstring syndrome is observed. A rapid initiation of an adequate primary therapy could be indicated.

Adolescent↗
PubMed2004

Classification of calf muscle MR images by texture analysis.

AIM: To evaluate a method of texture analysis (TA) for the description of magnetic resonance (MR) images of healthy and diseased calf muscles and to compare this method with standard radiological evaluation. METHODS: A total of 93 subjects (20 controls, seven healthy children of hypertonic parents, five diabetic patients and 61 subjects with muscle malfunction of various origin) underwent MR imaging of the calf muscle and texture analysis of images was performed. The results of TA were analysed by t-statistics and principal component analysis. Images of subjects were divided into four groups according to the assessment of three radiologists and this categorization of subjects was compared with the results from TA. RESULTS: We extracted seven features (from a total number of 282) which were successfully used for the description of the texture of T1w MR images of calf muscles. The results of classification by TA are in 80% agreement with the categorization made by the radiologists. In some cases, TA is able to describe changes not apparent by visual inspection. CONCLUSION: The TA of MR images of calf muscles can be used for the objective description of changes in muscles and could help radiologists to distinguish between healthy and diseased tissue.

Adult↗
PubMed1982

Electromyographic assessment of neonatal muscle tone.

A new psychiatric research method for measuring infant muscle tone using quantified electromyography is described. Muscle tone was assessed electromyographically from the arms and legs of 44 neonates; 18 offspring of drug abusing women, 26 control infants. Infants from the drug group had higher muscle tone than control infants. There was also a tendency for smaller infants and females to have higher muscle tone. Electromyographic assessments of tone were correlated with examiners' clinical assessments, but tended to be more sensitive to tone in specific muscle groups.

Birth Weight↗