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[A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset].

A case of symptomatic adrenoleukodystrophy (ALD) heterozygote, manifested by spastic paraparesis, was reported. The patient's 9 year-old grandson had ALD, and her 34 year-old daughter, who was the mother of the case of ALD, was asymptomatic but accompanied by elevation of serum very long chain fatty acid (VLCFA). The patient's gait disturbance appeared at age 62 and that gradually worsened. On admission, she showed spasticity on the lower limbs with bilateral Babinski's reflexes, muscle weakness of the lower limbs and interossei muscles of the hand, and mild sensory disturbance on the distal part of all limbs. Serum VLCFA was markedly elevated. There was no abnormal adrenal function. Sensory and motor nerve conduction velocities were within normal limits. A needle EMG examination disclosed long-duration and high-amplitude potentials. Auditory brainstem response (ABR) revealed elongation of III-V wave intervals bilaterally, and somatosensory evoked potential (SEP) showed delayed N20. Brain CT scan revealed no abnormality but MRI (T2 weighted image) showed mild high intensity areas in the capsula interna and cerebral peduncles. The abnormality of MRI suspected that spastic paraparesis may result from involvement of the corticospinal tract of the cerebrum or brainstem though the symptom has been considered due to the lesion of the spinal cord. Examinations of ABR, SEP and MRI were useful methods to make a diagnosis of symptomatic ALD heterozygote.

Adrenoleukodystrophy↗

Recovery of function after cryosurgical lesions of peripheral nerves in rats.

Unilateral lesions were made in rat sciatic nerves with a cryoprobe at about -65 degrees C. Three months later, recovery of motor and sensory function of the hindlimb had occurred. The compound action potential from the dorsal root indicated that myelinated and unmyelinated fibre groups had regenerated. Cryosurgery may be useful in the long-term blockade of sensory nerves for pain relief.

Action Potentials↗

Scanning electron microscopy of tegument-free sensory receptor of Schistosoma mansoni.

Immersion of adult Schistosoma mansoni in buffered trypsin for a short time removed the sponge-like tegument to the level of the basal lamina, effectively uncovering the basal lamina and intact sensory receptors. Stripping the tegument from the cilium and sensory bulb exposed the crown of the bulb and its axon-like process. A cilium protrudes from the bulbs through a collar-like supporting structure that resembles the rim and spokes of a wheel. The exposed axon-like process of some bulbs penetrated the basal lamina without ramifying and disappeared into the musculature; the ramifying process of others remained on the upper surface of the lamina for some distance. Identical micromorphology of the sensory receptor by Transmission Electron Microscopy (TEM) (Silk and Spence, 1969; Hockley, 1973), and the similar appearance of the surface of the bulb and cilia and the ciliary supporting structure by Scanning Electron Microscopy (SEM) suggests that all of the receptors probably perform the same sensory function.

Animals↗

Sensory and nonsensory portions of the nucleus "ventralis posterior" thalami of chimpanzee and man.

In man and chimpanzee, the large-celled region in the posteroinferior portion of the lateroventral thalamic mass, commonly called the nucleus ventralis posterior thalami, is separated cytoarchitecturally into two regions. The anterior portion is called the nucleus ventrointermedius (Vim) and the posterior part, the nucleus ventrocaudalis (Vc). In the chimpanzee it was found that most of the fibers from the superior cerebellar peduncle entered Vim on the way to distribution in the anterior half of the lateroventral thalamic mass. Fibers from the posterior spinal column (medial lemniscus) entered the Vc. No overlap was evident in the radiations from the two sources. An unusual human case is presented suporting the sensory function of Vc since a lesion in this nucleus resulted in persistent contralateral paresthesia. On the other side, a discrete lesion in Vim caused no sensory disturbance.

Afferent Pathways↗

Morbidity of harvesting of chin grafts: a prospective study.

In a prospective study, 20 patients who underwent harvesting of chin grafts as outpatients, were followed up for 12 months (3 further patients with incomplete follow-up data were excluded from the study). Preoperatively and 7 days, 1, 3, 6 and 12 months postoperatively, follow-up data were assessed. Evaluation of the superficial sensory function of the inferior alveolar nerve was determined by the Pointed-Blunt Test and the Two-Point-Discrimination Test. Sensory disturbances were objectively assessed by testing thermal sensitivity with the "Pain and Thermal Sensitivity" Test (PATH Test). In addition, evaluation of the pulp sensitivity of teeth 35-45 was carried out by cold vitality testing. One week postoperatively, 8 patients were affected by superficial sensory impairment. 8 nerve territories showed hypoaesthetic reactions and 5 showed hyperaesthetic reactions. After 12 months, two patients still suffered from hypoaesthesia of one side of the chin. There was a statistically significant sensitivity impairment of the chin for all patients comparing the preoperative data of the Two-Point-Discrimination Test (left/right median: 8.17/8.17 mm, interquartile range (IQR) 1.00/2.00 mm) with the first postoperative measurement (left/right median 9.00/8.33 mm, IQR 1.67/2.66 mm). Comparing the latter to the last postoperative measurement there was significant tendency for regeneration of a nerve function (left/right median 8.00/7.84 mm, IQR 0.66/2.00 mm). In the PATH Test all hypoaesthetic areas could be identified by a reduction of thermal sensitivity. After the first postoperative examination 21.6% (n=38/176) of the examined teeth had lost their pulp sensitivity. After 12 postoperative months 11.4% (n=20/176) still did not react sensitively. Many of these were canines (n=8/20). Comparing the preoperative to the first postoperative examination, there was a significant reduction of pulp sensitivity. However, statistically significant recovery until the last postoperative follow-up could not be detected. The assessed data show that patients have to be informed extensively about disturbances of the inferior alveolar nerve function lasting longer than 12 months. Moreover, the loss of pulp sensitivity is a very frequent event which has always to be taken into account. Considering the high rate of complications with harvesting of chin grafts, more prospective trials should be done to find out whether there are other donor sites for autogenous bone which put less strain on patients.

Ambulatory Surgical Procedures↗

Abnormalities in the sensory action potential in patients with amyotrophic lateral sclerosis.

Sensory function in patients with amyotrophic lateral sclerosis (ALS) is thought to be normal; however, there is convincing morphologic evidence that sensory systems are affected in addition to motor systems. In this study, compound sensory action potentials were recorded with near nerve electrodes from 18 patients with ALS. Up to 1024 responses were averaged at high gain to determine minimum conduction velocity; that is, the conduction velocity of the slowest conducting component of the sensory action potential. Nine of 18 patients had abnormally reduced minimum conduction velocity, even when peak-to-peak amplitude and maximum conduction velocity (calculated from the latency to the initial positive peak) were normal. Only 3 of 18 patients showed abnormalities in peak-to-peak amplitude. Thus, subtle abnormalities in the sensory action potential can be detected in many patients with ALS.

Action Potentials↗

Functional changes of the peripheral nervous system with aging in the mouse.

The influence of aging on peripheral nerve and target organ function was investigated in six groups of mice aged 2, 6, 9, 12, 18, and 24 months. Sudomotor, motor, and sensory functions mediated by the sciatic nerve were evaluated by silicone imprints, electrophysiological recordings and pinprick test from the distal hindpaw. Nerve conduction was also studied in the caudal nerves. The results showed that the number of sweat glands reactive to pilocarpine does not change significantly with aging, but the size of the sweat droplets is smaller in aged mice than in young mice. The amplitude of muscle and nerve action potentials evoked by stimulation of sciatic and caudal nerves decreased progressively from 2 to 24 months, while the latencies decreased from 2 to 6 months, remained unchanged until 12 months and increased thereafter. All the animals of the six groups studied showed positive, indistinguishable responses to pinprick. These results indicate that neurophysiological responses mediated by large diameter nerve fibers deteriorated with age, while those dependent of small fibers were preserved.

Aging↗

Superior oblique palsy or paresis in pediatric patients.

PURPOSE: To examine sensory and motor outcomes of superior oblique paresis (SOP) presenting in patients < 8 years old and to ascertain whether SOP was ever the presenting manifestation of intracranial pathology. METHODS: Retrospective observational case series of SOP in children < 8 years old in an outpatient university center. RESULTS: Ninety-two patients with SOP presented at a median age of 3.9 years. The etiologies were likely congenital (n = 56), craniofacial anomalies (n = 12), head trauma (n = 5), postresection of brain tumors (n = 3), orbital inflammation (n = 1), prenatal stroke (n = 1), and unknown (n = 14). Twenty-six were followed-up for a median of 2.1 years and did not have surgery; 46 were followed-up for a median of 3 years and did undergo surgery. No cases of new intracranial pathology occurred during follow-up. In 42 patients observed for at least 6 months without surgery, motor status was stable or improved (each in approximately one third of cases) or deteriorated (in one fourth of cases). Motor outcomes were better (P =.01) in patients undergoing surgery (87% aligned within 5 prism diopters) than in those not undergoing surgery despite worse presenting deviations. Sensory status did not show a similar improvement with surgery. Patients presenting before age 4 had worse sensory outcomes (P =.00001) than patients presenting later. At the last examination, 4 patients had vision < 20/40 from amblyopia. CONCLUSIONS: SOP in children < 8 years old was not associated with the development of new intracranial pathology. Motor alignment and sensory function were often stable, although some patients improved, and others deteriorated. With surgery, satisfactory motor outcomes were usually achieved, but sensory status often was not improved. Sensory outcomes were generally worse in patients presenting at younger ages.

Child↗

Serotonergic modulation of visceral sensation: upper gastrointestinal tract.

Agents that modify serotonergic function have therapeutic potential for the treatment of visceral hypersensitivity, either through a direct effect on perception or through modulation of visceral tone or motility. Administration of selective serotonin reuptake inhibitors reduces oesophageal sensitivity to distension but not gastric sensitivity to distension. 5-HT ligands may also influence gastric mechanosensitivity by altering tone. Although the exact role of 5-HT receptors in the control of gastrointestinal functions remains unknown, 5-HT is generally considered to be the main candidate involved in the modulation of motor and sensory function from the gastrointestinal tract. Hence serotonergic modulation of upper gut sensitivity appears to be promising for the development of novel approaches to the treatment of functional disorders of the upper gastrointestinal tract.

Animals↗

[Evaluation of the condition of patients with post-stroke hemiplegia and the progress in their rehabilitation].

The authors describe a method of documentation for assessing the condition of the patient on the basis of own experiences with over 1200 patients after stroke and a review of the pertinent literature. In a comprehensive evaluation of the condition of the patient after beginning of rehabilitation treatment and after its completion the participants were: the attending physician, a neuropsychologist, a kinesitherapeutist and a logopedist. All aspects having an influence on the functional state were taken into consideration: motor ability, contact with the surroundings, psychic state, sphincter control, cardiovascular efficiency, ventilatory efficiency, sensory function, general functioning. This method makes possible a reliable, objective and comparable documentation to be obtained, which facilitates assessment of the progression in treatment and the methods used in the treatment.

Cerebrovascular Disorders↗

Persistence of local twitch response with loss of conduction to and from the spinal cord.

A local twitch response (LTR) is a brisk contraction of a taut band of skeletal muscle fibers elicited by snapping palpation of a trigger point (TrP) in that band. The LTR is a clinically valuable objective sign that confirms the presence of a myofascial TrP. A transient burst of electromyographic (EMG) activity can be recorded from taut band fibers when an LTR is elicited by snapping palpation of TrP. A previous study of the human extensor digitorum muscle during ischemia suggested that both central and local pathways can be involved in the propagation of LTRs. In this study, EMG activity of LTRs in the third finger extensor muscle were recorded bilaterally in a patient with a unilateral brachial plexus lesion. This patient had complete loss of nerve conduction involving the posterior cord of the right brachial plexus as confirmed by EMG and nerve conduction studies and by neurological examination at 6 months after injury. EMG activity (measured as discharge duration and maximal amplitude) on the paralyzed side was significantly reduced (p < 0.01) as compared with the unaffected side, but had not disappeared. Three more studies were done at 7, 8, and 17 months after injury when the motor and sensory functions were recovered progressively. The EMG activity of LTRs recovered on the paralyzed side in parallel with the motor and sensory recovery. These findings indicate that the transmission of LTR depends mainly on the central nervous system with a possible minor degree of local transmission.

Action Potentials↗

Acute effects of therapeutic irradiation for prostatic carcinoma on anorectal function.

AIM: The incidence of anorectal symptoms after radiotherapy (RTH) for localised pelvic malignant disease is unclear. In addition, the effects of pelvic irradiation on both anorectal motility and sensory function are poorly defined. A prospective study was therefore performed on 35 patients (55-82 years of age) with localised prostatic carcinoma before and four to six weeks after RTH to assess its effects on anorectal function. METHODS: Anorectal symptoms were assessed by questionnaire. Anorectal pressures at rest and in response to voluntary squeeze, rectal distension, and increases in intra-abdominal pressure were evaluated with perfused sleeve side hole manometry. Rectal sensation was tested during graded balloon distension. Rectal compliance was calculated by the pressure-volume relation obtained during the testing of rectal sensation. Ultrasound was used to determine anal sphincter structure and integrity. RESULTS: RTH had no effect on anal sphincter morphology. The frequency of defecation increased after RTH (7 (3-21) v 10 (3-56) bowel actions a week; p < 0.01). After RTH, 16 patients had faecal urgency and eight faecal incontinence, compared with five and one respectively before RTH (p < 0.01 for each). Basal and squeeze sleeve recorded pressures were reduced after RTH (54 (3) v 49 (3) mm Hg (p < 0.05) and 111 (8) v 102 (8) mm Hg (p < 0.01), before and after RTH respectively; means (SEM)). Rectal compliance was reduced after RTH (1.2 v 1.4 mm Hg/ml, p < 0.05). After RTH, threshold volumes for perception of rectal distension were lower in the 16 patients who either experienced faecal urgency for the first time (13 patients) or reported worsening of this symptom (three patients) compared with the remaining patients (34 (4) v 48 (5) ml respectively, p < 0.05). CONCLUSION: Faecal incontinence (23%) is a common problem four to six weeks after RTH for prostatic carcinoma and is associated with minor reductions in anal sphincter pressures. The high prevalence of faecal urgency in patients after RTH may be related to alterations in rectal perception of stool.

Aged↗

Absence of increasing cortical fMRI activity volume in response to increasing visceral stimulation in IBS patients.

Cerebral cortical activity associated with perceived visceral sensation represents registration of afferent transduction and cognitive processes related to perception. Abnormalities of gut sensory function can involve either or both of these processes. Cortical registration of subliminal viscerosensory signals represents cerebral cortical activity induced by stimulation of intestinal sensory neurocircuitry without the influence of perception-related cortical activity, whereas those associated with perception represent both neural circuitry and cognitive processes. Our aims were to determine and compare quantitatively cerebral cortical functional magnetic resonance imaging (fMRI) activity in response to subliminal, liminal, and nonpainful supraliminal rectal distension between a group of irritable bowel syndrome (IBS) patients and age/gender-matched controls. Eight female IBS patients and eight age-matched healthy female control subjects were studied using brain fMRI techniques. Three barostat-controlled distension levels were tested: 1) 10 mmHg below perception (subliminal), 2) at perception (liminal), and 3) 10 mmHg above perception (supraliminal). In control subjects, there was a direct relationship between stimulus intensity and cortical activity volumes, ie., the volume of fMRI cortical activity in response to subliminal (3,226 +/- 335 microl), liminal (5,751 +/- 396 microl), and supraliminal nonpainful stimulation (8,246 +/- 624 microl) were significantly different (P < 0.05). In contrast, in IBS patients this relationship was absent and fMRI activity volumes for subliminal (2,985 +/- 332 microl), liminal (2,457 +/- 342 microl), and supraliminal nonpainful stimulation (2,493 +/- 351 microl) were similar. Additional recruitment of cortical fMRI activity volume in response to increasing stimulation from subliminal to liminal and supraliminal domains is absent in IBS patients, suggesting a difference in the processing of perceived stimulation compared with controls.

Adult↗

Lesion size and recovery of function: some new perspectives.

The present article discusses the possibility that functional recovery following brain damage may be to a large degree dependent on the amount of nervous tissue destroyed, such that more neuronal destruction may lead to more and not (as commonly suggested) to less recovery. This assumption may derive from the neuropsychological and neurological literature: many cases with circumscribed brain lesions are implicated with severe functional losses. However, patients with dramatic and severe brain destructions often show astonishingly normal behavior regarding cognition, speech, visuospatial, motor and sensory functions. Animal experimentation as well shows that an extensive lesion of a brain area may be associated with equal or less functional detriment than a small lesion of the same area. Along with the well-known variables of age, lesion growth, or personality and environmental factors, the amount of tissue destroyed should be considered as a potent mediator of functional recovery. At least for some functions and brain regions, the likeliness of recovery may increase with the extent of the lesion and thus the necessity of the brain to fulfill plastic changes.

Animals↗

Quantitative sensory testing of patients with long lasting Patellofemoral pain syndrome.

BACKGROUND: Anterior knee pain, diagnosed as Patellofemoral Pain Syndrome (PFPS), is one of the most common musculoskeletal problems found in adolescents and young adults. There is no consensus in medical literature concerning the aetiology of the PFPS. AIMS: To assess by means of Quantitative Sensory Testing (QST) whether patients suffering from long-lasting unilateral PFPS demonstrate somatosensory dysfunction related to afferent fibres from the local pain area. METHODS: A descriptive non-experimental study with two independent samples, consisting of 25 men and women between 18 and 44 years of age with unilateral PFPS, and a comparable group of 23 healthy subjects. Somedic Thermotest apparatus was used to assess thresholds of thermal perception, and of heat and cold pain thresholds. Von Frey filaments were used to detect tactile sensitivity. Furthermore, quality and intensity of knee pain, symptoms and signs from a clinical neurological examination were recorded. RESULTS: Decreased sensitivity to tactile stimulation, when tested with von Frey filaments, was demonstrated on both the painful and pain-free knee in subjects with PFPS, compared to the mean between the knees of the control group (p< or =0.001). The mean detection threshold for warmth was increased by 1.9 degrees C (p< or =0.01) in the painful knee, and 1.4 degrees C (p< or =0.01) in the non-painful knee in the PFPS group, compared to the mean of the healthy control group. The mean detection threshold for cold was increased by 1.6 degrees C (p< or =0.01) in the painful knee of the PFPS group, compared to the control group. These findings were supported by clinical sensory tests. No significant differences of mean thermal pain thresholds between the PFPS group and controls were found, and there were no significant differences in mean detection thresholds for warmth, cold or thermal pain thresholds between the painful and the non-painful knees in the PFPS group. CONCLUSION: This study demonstrated an abnormal sensory function in the painful and non-painful knee in some individuals with long lasting unilateral Patellofemoral Pain Syndrome using Quantitative Sensory Testing supported by clinical neurological examinations. A dysfunction of the peripheral and/or the central nervous system may cause neuropathic pain in some subjects with PFPS.

Adolescent↗

Gut motor function: immunological control in enteric infection and inflammation.

Alteration in gastrointestinal (GI) motility occurs in a variety of clinical settings which include acute enteritis, inflammatory bowel disease, intestinal pseudo-obstruction and irritable bowel syndrome (IBS). Most disorders affecting the GI tract arise as a result of noxious stimulation from the lumen via either microbes or chemicals. However, it is not clear how injurious processes initiated in the mucosa alter function in the deeper motor apparatus of the gut wall. Activation of immune cells may lead to changes in motor-sensory function in the gut resulting in the development of an efficient defence force which assists in the eviction of the noxious agent from the intestinal lumen. This review addresses the interface between immune and motor system in the context of host resistance based on the studies in murine model of enteric nematode parasite infection. These studies clearly demonstrate that the infection-induced T helper 2 type immune response is critical in producing the alterations of infection-induced intestinal muscle function in this infection and that this immune-mediated alteration in muscle function is associated with host defence mechanisms. In addition, by manipulating the host immune response, it is possible to modulate the accompanying muscle function, and this may have clinical relevance. These observations not only provide valuable information on the immunological control of gut motor function and its role in host defence in enteric infection, but also provide a basis for understanding pathophysiology of gastrointestinal motility disorders such as in IBS.

Animals↗

Intravenous glycerol in cerebral infarction: a controlled 4-month trial.

A double-blind, randomized trial was performed with 51 patients suffering from focal ischemic lesions in the territory of the middle cerebral artery. Intravenous infusions of 10% glycerol in 0.9% NaCl--5% glucose solutions were administered twice daily for 6 days to 26 patients, and the same amount of NaCl--glucose solutions to 25 controls. Glycerol did not reduce mortality (9 deaths in each group). The functional recovery was assessed by repeated neurological examinations during the 4 month trial. Glycerol significantly improved global performances and motor and sensory functions in patients with moderate disability, but its effect on global performances was transient. The patients with severe disability were not improved at all.

Aged↗

[Neurologic diagnosis of spinal diseases].

The clinical assessment of neurological deficits using a standardized protocol in spinal cord disorders is most important for indicating further neuroradiological, neurophysiological and orthopedic examinations. By neurophysiological technics the clinical examinations can be supplemented not only in patients, who are not able to cooperate. Furthermore the latter technics are able to assess in how far findings in neuroradiological examinations can be related to clinically complained symptoms. The clinical examination should define the spinal level of lesion for motor and sensory function separately and use a semiquantitative scoring system of neurological deficits, which is most relevant for follow-up examinations. Performing motor evoked potentials (MEP), somato-sensory evoked potentials (SSEP) and electromyographic recordings allows to distinguish between lesions of the central and peripheral nervous system and to assess disturbances of spinal cord function.

Diagnosis, Differential↗