A small group of patients with inherited neuropathy that has been shown to be caused by mutations... more A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability. BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R9...
Journal of the neurological sciences, Jan 15, 2015
Charcot Marie Tooth disease type 1A (CMT1A) is the most commonly inherited demyelinating polyneur... more Charcot Marie Tooth disease type 1A (CMT1A) is the most commonly inherited demyelinating polyneuropathy with variable phenotypes, affected by several comorbidities, especially diabetes mellitus (DM). Previous studies showed that DM exacerbates the clinical manifestations of CMT1A. We retrospectively evaluated patients with CMT1A in our hospital, and identified three groups among 12 cases, which comprised four patients with CMT1A, four with CMT1A+DM, and four with DM. We reviewed the CMT neuropathy score (CMTNS), electrophysiological data, and histomorphological parameters of the sural nerve, including fiber density, myelin thickness, axon diameter, g-ratio, regenerative clusters, and regeneration ratio. The CMTNS was significantly higher in patients with CMT1A+DM (21.5±2.52) than in those with CMT1A only (10.8±4.4; p=0.03). Pathological findings in patients with CMT1A+DM included a significant decrease of myelinated fiber density (p=0.02) and reduction in the regenerative ratio (p=0...
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
We consecutively collected 68 normal subjects who assented to receive electrophysiological examin... more We consecutively collected 68 normal subjects who assented to receive electrophysiological examination in four limbs. There were 50 men and 18 women, with a mean age of 50.8 +/- 17.9 years (range: 15-88) and a mean height of 162.72 +/- 9.05 cm (range: 138-180). Mean skin temperature was 32.75 +/- 1.51 degrees C (range: 29.4-35.6) at wrist and 30.9 +/- 1.1 degrees C (range: 29-33) at lower leg. The mean values with standard deviation of the nerve conduction parameters such as distal latency, nerve conduction velocity, amplitude, duration and area of compound muscle action potential and sensory action potential, minimal latencies of H reflexes and F responses, and their side-to-side differences were presented. Age was negatively correlated with motor nerve conduction velocity (P < 0.05, r = -0.37 to -0.46), amplitude of compound muscle action potential (P < 0.05, r = -0.32 to -0.43) and sensory action potential (P < 0.05, r = -0.33 to -0.65), but not with sensory nerve conduction velocity (P > 0.05). Height was correlated with minimal latencies of H-reflexes and F-responses (P < 0.05, r = 0.45 to 0.76). Gender and temperature were not correlated with any parameters (P > 0.05).
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
A 51-year-old man has suffered from progressive dysarthria since 1989. He himself noted slight we... more A 51-year-old man has suffered from progressive dysarthria since 1989. He himself noted slight weakness and tightness of the tongue, so that he was unable to perform motor tasks in a normal fashion. He was diagnosed as having nasopharyngeal carcinoma and had irradiation 70 Gy in 32 divided doses in 1979. Neurological examination revealed left-sided tongue atrophy and myokymia sparing of facial muscles involvement. Electrical discharges of myokymia and neuromyotonia were observed in the tongue muscles, suggesting hypoglossal nerve lesion with hyperexcitability of the axon membrance. Computed tomogram of brain did not show any evidence of recurrence of tumor; indicating that irradiation was the pathologic basis. Our report revealed that myokymia and neuromyotonia of the tongue was an unusual complication of irradiation.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Botulism may involve the autonomic nervous system. We assessed the autonomic function of 6 botuli... more Botulism may involve the autonomic nervous system. We assessed the autonomic function of 6 botulism patients with heart rate variations, sympathetic skin responses, and plasma norepinephrine. Two weeks after onset, all the patients had absent sympathetic skin response in the palm and sole. Compared with controls, the heart rate variation of botulism patients was significantly decreased at rest (3.1 +/- 1.2% vs. 20.9 +/- 2.0%, p = 0.0018) and during deep breathing (4.3 +/- 2.3% vs. 29.7 +/- 2.6%, p = 0.0018). The botulism patients had significantly lower plasma norepinephrine levels (supine 29.2 +/- 10.1 pg/ml vs. 257.5 +/- 65.8 pg/ml, p = 0.0018; standing 40.3 +/- 13.1 pg/ml vs. 498.5 +/- 85.6 pg/ml, p = 0.0018). The heart rate variation and sympathetic skin response was greatly improved 6 months after onset. Heart rate variation, absence of sympathetic skin response, and low plasma norepinephrine are all manifestations of autonomic dysfunction in botulism patients.
For precise evaluation of cervical radiculopathy, cervical root stimulation (CRS), conventional e... more For precise evaluation of cervical radiculopathy, cervical root stimulation (CRS), conventional electromyographic (EMG) studies, nerve conduction velocity (NCV) studies and F responses were done in 32 patients with clinical symptoms and signs of cervical radiculopathy. While performing CRS, a monopolar needle was inserted into the paraspinal muscles, and the compound muscle action potentials (CMAPs) in the biceps, triceps and abductor digiti minimi muscles were recorded. Conventional EMG was abnormal in 18 (56.2%), whereas CRS was abnormal in 25 (78.1%). Among the 25 patients with positive CRS tests, 13 received surgical decompression for cervical root compression caused either by a cervical disc or by foramen narrowing due to spondylosis. Only 10 out of 13 (76.9%) had abnormal conventional EMG findings. CRS provides a sensitive method for making a direct evaluation of proximal root conduction and is a good aid for pre-surgical evaluation of cervical radiculopathy.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
The following report is a case of multifocal demyelinating motor neuropathy (MMN) presenting as a... more The following report is a case of multifocal demyelinating motor neuropathy (MMN) presenting as a gradual development of asymmetric motor weakness without sensory involvement. Electrophysiological studies showed mainly a conduction block with normal or slightly slow nerve conduction velocity. Cerebrospinal fluid (CSF) protein and serum protein electrophoresis were normal, but serum IgM anti-GM1 ganglioside antibody was elevated. The patient had a poor response to steroid, plasmapheresis and chemotherapy with cyclophosphamide, but significant improvement was noted after intravenous immunoglobulin (IVIG) infusion. MMN is a potentially treatable condition which clinically mimics a motor neuron disease; if treatment with steroid, plasmapheresis and cyclophosphamide have failed, IVIG may be effective.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
A 66-year-old man suddenly developed bilateral ptosis after awaking from a nap. He did not experi... more A 66-year-old man suddenly developed bilateral ptosis after awaking from a nap. He did not experience nausea, vomiting or headache. In the emergency room, high blood pressure was noted. On examination, his consciousness was clear. Ptosis was present bilaterally and worse on the right side. The pupils promptly constricted to light. He could fully adduct his eyes during conjugate gaze movements, but convergence was impaired in the right eye. There was no diplopia or nystagmus. The assessment of the motor and sensory systems revealed no significant findings. Computed tomographic scanning and magnetic resonance imaging of the brain showed a small hematoma in the midbrain. Six months later, ptosis improved; however, the convergence deficit remained.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
We evaluated 48 consecutive patients with periventricular lucencies (PVL) on CT scan of brain to ... more We evaluated 48 consecutive patients with periventricular lucencies (PVL) on CT scan of brain to determine the clinical significance of this finding. Twenty-one (43.7%) patients were demented; 27 (56.3%) patients had no dementia but had various other diseases. PVL were frequently associated with hypertension and previous stroke. We used a PVL scoring system to evaluate the degree of PVL. When the score was greater than 3.5, the sensitivity and specificity in separating vascular dementia from other diseases with PVL were 78% and 67% respectively (Kappa = 0.42). We conclude that although mild PVL may be a frequent but non-specific finding in patients with hypertension or previous stroke, moderate and severe PVL should raise the possibility of vascular dementia.
Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, ... more Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, is characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression or trauma. In this report, we present the clinical features, electrophysiological studies, nerve biopsy results, and molecular analyses of a Taiwanese family. Among the 7 members evaluated, one latent and three symptomatic patients were found
1-Bromopropane (1-BP) is an alternative to ozone-depleting solvent that is used in degreasing, dr... more 1-Bromopropane (1-BP) is an alternative to ozone-depleting solvent that is used in degreasing, dry cleaning, spray adhesives, and aerosol solvents. Occupational exposure to 1-BP is associated with adverse peripheral sensory, motor, and central nervous system (CNS) effects. We report our Health Hazard and Medical Evaluation of 6 patients with neurotoxicity associated with occupational exposure to 1-BP. Case series and environmental evaluation. Six workers, 1 male and 5 female, were exposed to high ambient 1-BP concentrations while employed in a golf club cleaning factory. 1-BP was identified in the bulk solvent sample used by the workers and confirmed the workers' daily occupational exposure to 1-BP for 3-10 months. The major presenting symptoms were tingling pain, soreness in lower extremities, and paresthesia. N-acetyl-S-(n-propyl)-L-cysteine (AcPrCys), a 1-BP metabolite, was identified by LC/MS/MS in the urine (0.171-1.74 mg/g-Cr) of these workers 5-26 days following 1-BP exposure. An occupational outbreak of 1-BP poisoning occurred as a result of recurrent power outages, condenser, and exhaust fans malfunction, and inadequate personal protection. Occupational exposure to 1-BP may result in peripheral neuropathy as well as adverse CNS effects. Urine AcPrCys may be a specific biomarker for 1-BP exposure.
The 12-item Modular Smell Identification Test (MODSIT) was administered to 239 male and 271 femal... more The 12-item Modular Smell Identification Test (MODSIT) was administered to 239 male and 271 female Chinese subjects whose age ranged from 50 to 92 years (68.3 +/- 10.9) and whose education ranged from 0 to 20 years (2.5 +/- 4.3). Every participant was examined by a physician and was found to be free of dementia, stroke, and Parkinson's disease. Different from the standard procedures, only one-third of each odor pad was used for each subject, the four odor choices were presented orally for the majority of subjects, and they were not forced to make a selection when they could not detect or identify the odor. The average level of performance was 46% correct. The score was negatively associated with age, positively associated with education and with performance on a dementia screening test, and corroborated with subjects' report of smell deterioration in recent years. Nonsmokers and women performed better than smokers and men. The 12-item MODSIT had an internal consistency relia...
Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nerv... more Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system that has been associated with influenza immunization, but only a few cases related to vaccination for influenza have been reported. Acute disseminated encephalomyelitis developed in a 42-year-old woman within 3 weeks of receiving the seasonal influenza vaccine. She had 80% recovery after 3 months of treatment with methylprednisolone. Although cases of acute disseminated encephalomyelitis after vaccination for influenza are rare, enough of them have occurred that critical care nurses should be aware of the possibility. Early treatment can prevent serious residual signs and symptoms; therefore, correct and quick diagnosis is important. Medical history obtained from patients with central nervous system problems should include history of recent vaccinations.
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is... more Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effect...
A small group of patients with inherited neuropathy that has been shown to be caused by mutations... more A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability. BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R9...
Journal of the neurological sciences, Jan 15, 2015
Charcot Marie Tooth disease type 1A (CMT1A) is the most commonly inherited demyelinating polyneur... more Charcot Marie Tooth disease type 1A (CMT1A) is the most commonly inherited demyelinating polyneuropathy with variable phenotypes, affected by several comorbidities, especially diabetes mellitus (DM). Previous studies showed that DM exacerbates the clinical manifestations of CMT1A. We retrospectively evaluated patients with CMT1A in our hospital, and identified three groups among 12 cases, which comprised four patients with CMT1A, four with CMT1A+DM, and four with DM. We reviewed the CMT neuropathy score (CMTNS), electrophysiological data, and histomorphological parameters of the sural nerve, including fiber density, myelin thickness, axon diameter, g-ratio, regenerative clusters, and regeneration ratio. The CMTNS was significantly higher in patients with CMT1A+DM (21.5±2.52) than in those with CMT1A only (10.8±4.4; p=0.03). Pathological findings in patients with CMT1A+DM included a significant decrease of myelinated fiber density (p=0.02) and reduction in the regenerative ratio (p=0...
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
We consecutively collected 68 normal subjects who assented to receive electrophysiological examin... more We consecutively collected 68 normal subjects who assented to receive electrophysiological examination in four limbs. There were 50 men and 18 women, with a mean age of 50.8 +/- 17.9 years (range: 15-88) and a mean height of 162.72 +/- 9.05 cm (range: 138-180). Mean skin temperature was 32.75 +/- 1.51 degrees C (range: 29.4-35.6) at wrist and 30.9 +/- 1.1 degrees C (range: 29-33) at lower leg. The mean values with standard deviation of the nerve conduction parameters such as distal latency, nerve conduction velocity, amplitude, duration and area of compound muscle action potential and sensory action potential, minimal latencies of H reflexes and F responses, and their side-to-side differences were presented. Age was negatively correlated with motor nerve conduction velocity (P < 0.05, r = -0.37 to -0.46), amplitude of compound muscle action potential (P < 0.05, r = -0.32 to -0.43) and sensory action potential (P < 0.05, r = -0.33 to -0.65), but not with sensory nerve conduction velocity (P > 0.05). Height was correlated with minimal latencies of H-reflexes and F-responses (P < 0.05, r = 0.45 to 0.76). Gender and temperature were not correlated with any parameters (P > 0.05).
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
A 51-year-old man has suffered from progressive dysarthria since 1989. He himself noted slight we... more A 51-year-old man has suffered from progressive dysarthria since 1989. He himself noted slight weakness and tightness of the tongue, so that he was unable to perform motor tasks in a normal fashion. He was diagnosed as having nasopharyngeal carcinoma and had irradiation 70 Gy in 32 divided doses in 1979. Neurological examination revealed left-sided tongue atrophy and myokymia sparing of facial muscles involvement. Electrical discharges of myokymia and neuromyotonia were observed in the tongue muscles, suggesting hypoglossal nerve lesion with hyperexcitability of the axon membrance. Computed tomogram of brain did not show any evidence of recurrence of tumor; indicating that irradiation was the pathologic basis. Our report revealed that myokymia and neuromyotonia of the tongue was an unusual complication of irradiation.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Botulism may involve the autonomic nervous system. We assessed the autonomic function of 6 botuli... more Botulism may involve the autonomic nervous system. We assessed the autonomic function of 6 botulism patients with heart rate variations, sympathetic skin responses, and plasma norepinephrine. Two weeks after onset, all the patients had absent sympathetic skin response in the palm and sole. Compared with controls, the heart rate variation of botulism patients was significantly decreased at rest (3.1 +/- 1.2% vs. 20.9 +/- 2.0%, p = 0.0018) and during deep breathing (4.3 +/- 2.3% vs. 29.7 +/- 2.6%, p = 0.0018). The botulism patients had significantly lower plasma norepinephrine levels (supine 29.2 +/- 10.1 pg/ml vs. 257.5 +/- 65.8 pg/ml, p = 0.0018; standing 40.3 +/- 13.1 pg/ml vs. 498.5 +/- 85.6 pg/ml, p = 0.0018). The heart rate variation and sympathetic skin response was greatly improved 6 months after onset. Heart rate variation, absence of sympathetic skin response, and low plasma norepinephrine are all manifestations of autonomic dysfunction in botulism patients.
For precise evaluation of cervical radiculopathy, cervical root stimulation (CRS), conventional e... more For precise evaluation of cervical radiculopathy, cervical root stimulation (CRS), conventional electromyographic (EMG) studies, nerve conduction velocity (NCV) studies and F responses were done in 32 patients with clinical symptoms and signs of cervical radiculopathy. While performing CRS, a monopolar needle was inserted into the paraspinal muscles, and the compound muscle action potentials (CMAPs) in the biceps, triceps and abductor digiti minimi muscles were recorded. Conventional EMG was abnormal in 18 (56.2%), whereas CRS was abnormal in 25 (78.1%). Among the 25 patients with positive CRS tests, 13 received surgical decompression for cervical root compression caused either by a cervical disc or by foramen narrowing due to spondylosis. Only 10 out of 13 (76.9%) had abnormal conventional EMG findings. CRS provides a sensitive method for making a direct evaluation of proximal root conduction and is a good aid for pre-surgical evaluation of cervical radiculopathy.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
The following report is a case of multifocal demyelinating motor neuropathy (MMN) presenting as a... more The following report is a case of multifocal demyelinating motor neuropathy (MMN) presenting as a gradual development of asymmetric motor weakness without sensory involvement. Electrophysiological studies showed mainly a conduction block with normal or slightly slow nerve conduction velocity. Cerebrospinal fluid (CSF) protein and serum protein electrophoresis were normal, but serum IgM anti-GM1 ganglioside antibody was elevated. The patient had a poor response to steroid, plasmapheresis and chemotherapy with cyclophosphamide, but significant improvement was noted after intravenous immunoglobulin (IVIG) infusion. MMN is a potentially treatable condition which clinically mimics a motor neuron disease; if treatment with steroid, plasmapheresis and cyclophosphamide have failed, IVIG may be effective.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
A 66-year-old man suddenly developed bilateral ptosis after awaking from a nap. He did not experi... more A 66-year-old man suddenly developed bilateral ptosis after awaking from a nap. He did not experience nausea, vomiting or headache. In the emergency room, high blood pressure was noted. On examination, his consciousness was clear. Ptosis was present bilaterally and worse on the right side. The pupils promptly constricted to light. He could fully adduct his eyes during conjugate gaze movements, but convergence was impaired in the right eye. There was no diplopia or nystagmus. The assessment of the motor and sensory systems revealed no significant findings. Computed tomographic scanning and magnetic resonance imaging of the brain showed a small hematoma in the midbrain. Six months later, ptosis improved; however, the convergence deficit remained.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
We evaluated 48 consecutive patients with periventricular lucencies (PVL) on CT scan of brain to ... more We evaluated 48 consecutive patients with periventricular lucencies (PVL) on CT scan of brain to determine the clinical significance of this finding. Twenty-one (43.7%) patients were demented; 27 (56.3%) patients had no dementia but had various other diseases. PVL were frequently associated with hypertension and previous stroke. We used a PVL scoring system to evaluate the degree of PVL. When the score was greater than 3.5, the sensitivity and specificity in separating vascular dementia from other diseases with PVL were 78% and 67% respectively (Kappa = 0.42). We conclude that although mild PVL may be a frequent but non-specific finding in patients with hypertension or previous stroke, moderate and severe PVL should raise the possibility of vascular dementia.
Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, ... more Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, is characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression or trauma. In this report, we present the clinical features, electrophysiological studies, nerve biopsy results, and molecular analyses of a Taiwanese family. Among the 7 members evaluated, one latent and three symptomatic patients were found
1-Bromopropane (1-BP) is an alternative to ozone-depleting solvent that is used in degreasing, dr... more 1-Bromopropane (1-BP) is an alternative to ozone-depleting solvent that is used in degreasing, dry cleaning, spray adhesives, and aerosol solvents. Occupational exposure to 1-BP is associated with adverse peripheral sensory, motor, and central nervous system (CNS) effects. We report our Health Hazard and Medical Evaluation of 6 patients with neurotoxicity associated with occupational exposure to 1-BP. Case series and environmental evaluation. Six workers, 1 male and 5 female, were exposed to high ambient 1-BP concentrations while employed in a golf club cleaning factory. 1-BP was identified in the bulk solvent sample used by the workers and confirmed the workers' daily occupational exposure to 1-BP for 3-10 months. The major presenting symptoms were tingling pain, soreness in lower extremities, and paresthesia. N-acetyl-S-(n-propyl)-L-cysteine (AcPrCys), a 1-BP metabolite, was identified by LC/MS/MS in the urine (0.171-1.74 mg/g-Cr) of these workers 5-26 days following 1-BP exposure. An occupational outbreak of 1-BP poisoning occurred as a result of recurrent power outages, condenser, and exhaust fans malfunction, and inadequate personal protection. Occupational exposure to 1-BP may result in peripheral neuropathy as well as adverse CNS effects. Urine AcPrCys may be a specific biomarker for 1-BP exposure.
The 12-item Modular Smell Identification Test (MODSIT) was administered to 239 male and 271 femal... more The 12-item Modular Smell Identification Test (MODSIT) was administered to 239 male and 271 female Chinese subjects whose age ranged from 50 to 92 years (68.3 +/- 10.9) and whose education ranged from 0 to 20 years (2.5 +/- 4.3). Every participant was examined by a physician and was found to be free of dementia, stroke, and Parkinson's disease. Different from the standard procedures, only one-third of each odor pad was used for each subject, the four odor choices were presented orally for the majority of subjects, and they were not forced to make a selection when they could not detect or identify the odor. The average level of performance was 46% correct. The score was negatively associated with age, positively associated with education and with performance on a dementia screening test, and corroborated with subjects' report of smell deterioration in recent years. Nonsmokers and women performed better than smokers and men. The 12-item MODSIT had an internal consistency relia...
Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nerv... more Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system that has been associated with influenza immunization, but only a few cases related to vaccination for influenza have been reported. Acute disseminated encephalomyelitis developed in a 42-year-old woman within 3 weeks of receiving the seasonal influenza vaccine. She had 80% recovery after 3 months of treatment with methylprednisolone. Although cases of acute disseminated encephalomyelitis after vaccination for influenza are rare, enough of them have occurred that critical care nurses should be aware of the possibility. Early treatment can prevent serious residual signs and symptoms; therefore, correct and quick diagnosis is important. Medical history obtained from patients with central nervous system problems should include history of recent vaccinations.
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is... more Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effect...
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