A new balloon dissector, a modification of a Foley catheter, was devised and it can be used either as a dissector or a tissue expander. Since most operating time was spent in balloon manipulation (inflation/deflation), the duct for saline injection was made to be wider than the Foley catheter. As a result, the balloon could be inflated faster than before. In order to reduce the scar at the donor site, harvest of the sural nerve using endoscopic technique is currently applied, but utilization of this method is technically difficult and requires a long operating time. For these reasons, new our method of using a balloon dissector was devised. The balloon dissector can also be used for immediate intraoperative tissue expansion for the reconstruction of small skin defects without distortion. We have found that the advantages of using the new balloon dissector include a reduction in operating time, preservation of the perforating vessels, and primary closure with less tension. In addition, this simple and inexpensive instrument is cost-beneficial to patients.
Catheters ; Cicatrix ; Humans ; Skin ; Sural Nerve ; Tissue Donors ; Tissue Expansion ; Tissue Expansion Devices

PURPOSE: To determine the upper limit of peripheral nerve lengthening without loss of function, the recovery time of peripheral nerve palsy due to nerve lengthening and their histological changes. MATERIALS AND METHODS: Twelve adult New Zealand rabbits weighing about 2.5 kg were assigned to the following groups. Group 1 (n=6) was subjected to slow tissue expansion with 30% of nerve lengthening while group 2 (n=6) was rapid expansion with 40% lengthening of nerve. The expanders were refilled every 2 times during the 2nd and 4th weeks making a total four times of expansion. The rabbits were assessed in terms of affected leg paralysis, neural length gain, EMG with nerve conduction velocity and histological changes. RESULTS: In group 1 (n=6), paralysis on affected leg was found in one rabbit and was recovered spontaneously on the 4th weeks after expander removal. In Group 2 (n=6), paralysis was found in four rabbits, and three of them were recovered on 4, 5 and 9 weeks after removal of the expander. EMG study showed increase in distal latency of 2.50+/- 0.20 m/sec, and decrease in nerve conduction velocity of 62.49+/- 5.30 m/sec compared to normal side with 1.89+/- 0.14 m/sec and 75.39+/- 7.82 m/sec. The mean neural length gain was 6 mm (30% of 20 mm of initial pre-experimental nerve length) in group 1 and 8 mm (40% of 20 mm) in group 2. Light microscopic examination revealed the loss of segmental myelination, decrease of myelination, and vacuolation. Electron microscopic examination showed that the normal ring shaped contour of axon was changed to convoluted shape.
Adult ; Axons ; Humans ; Leg ; Myelin Sheath ; Nerve Expansion ; Neural Conduction ; Paralysis ; Peripheral Nerves ; Rabbits ; Sciatic Nerve* ; Tissue Expansion*

OBJECTIVE: To investigate the effect of peripheral nerve stretching on motor evoked potentials (MEP) as a method of facilitation. METHODS: Twenty three normal healthy volunteers were enrolled. Transcranial magnetic stimu lation (TMS) was applied to the contralateral scalp at 7 cm lateral to Cz using 90 cm round coil. Intensity of stimulation was adjusted to 90% of maximal stimulation intensity. Recording was done on the abductor pollicis brevis muscle in three different conditions; firstly resting state, secondly voluntary contraction of abductor pollicis brevis muscle, and lastly with stretching of median nerve. The onset latency and amplitude were obtained and compared between three conditions. RESULT: The amplitude of MEP was significantly increased in the condition with muscle contraction and peripheal nerve stretching compared with resting state. The latency was shortened in the condition with muscle contraction with statistical significance and with peripheral nerve stretching without significance. CONCLUSION: We concluded that stretching of peripheral nerve can be used as a method of facilitation of MEP. This method is considered to be useful especially for the patients with motor paralysis or poor cooperarion for voluntary contraction.
Evoked Potentials, Motor* ; Healthy Volunteers ; Humans ; Median Nerve ; Muscle Contraction ; Nerve Expansion ; Paralysis ; Peripheral Nerves* ; Scalp ; Transcranial Magnetic Stimulation

Isolated hypoglossal nerve paresis due to mechanical compression from a vascular lesion is very rare. We present a case of a 32-year-old man who presented with spontaneous abrupt-onset dysarthria, swallowing difficulty and left-sided tongue atrophy. Brain computed tomographic angiography and magnetic resonance imaging of the brainstem demonstrated an abnormal course of the left vertebral artery compressing the medulla oblongata at the exit zone of the hypoglossal rootlets that was relieved by microvascular decompression of the offending intracranial vertebral artery. This case supports the hypothesis that hypoglossal nerve palsy can be due to nerve stretching and compression by a pulsating normal vertebral artery. Microvascular decompression of the intracranial nerve and careful evaluation of the imaging studies can resolve unexpected isolated hypoglossal nerve palsy.
Adult ; Angiography ; Atrophy ; Brain ; Brain Stem ; Deglutition ; Dysarthria ; Humans ; Hypoglossal Nerve ; Hypoglossal Nerve Diseases ; Magnetic Resonance Imaging ; Medulla Oblongata ; Microvascular Decompression Surgery ; Nerve Expansion ; Paresis ; Tongue ; Vertebral Artery

Polyglutamine (Poly Q) diseases are a group of neurodegenerative disorders, caused by the formation of PolyQ mutants due to trinucleotide repeats expansion in coding regions of disease-causing genes, which eventually lead to selective neuronal degeneration and death with unclarified pathogenesis. As a new type of genetic regulatory factor, microRNA (miRNA) plays an important role in modulating gene expression in eukaryote. During the recent years, more attention was paid to roles and related mechanism of miRNA involving in neurodegenerative disease, especially PolyQ diseases. This review is focused on research progress in roles of miRNA in the pathogenesis of PolyQ diseases.
Eukaryota ; MicroRNAs ; genetics ; physiology ; Nerve Degeneration ; Neurodegenerative Diseases ; genetics ; Peptides ; genetics ; Trinucleotide Repeat Expansion ; genetics ; Trinucleotide Repeats ; genetics

The median nerve is the most important nerve in the upper extremity, as it is responsible for most of the sensation of the hand, the fine motor functions of the thumb, and finger grasping. Median neuropathies most commonly occur as compressive neuropathy or entrapment neuropathy, but sometimes as neuritis without any compressive lesion. Carpal tunnel syndrome (CTS), anterior interosseous nerve syndrome, and pronator teres syndrome are the subtypes of median nerve neuropathies, of which CTS is the most common. Median neuropathies can be diagnosed clinically by careful history-taking and a physical examination. Typical symptoms of CTS include night pain (crying), a tingling sensation of the radial digits, numbness or paresthesia, clumsiness, and atrophy of the thenar muscles. Electrophysiologic testing can be used for confirmation of the diagnosis and for documentation before surgical treatment. Imaging modalities including ultrasonography or magnetic resonance imaging can be used to ensure diagnostic accuracy and to detect unusual causes of compression. Conservative treatments include rest, bracing, nerve stretching, non-steroidal anti-inflammatory drugs, and steroid injections. If nonsurgical approaches are unsatisfactory or the nerve damage is severe, surgical treatment should be considered. Carpal tunnel release for CTS is a relatively simple procedure that involves division of the transverse carpal ligament and decompression of the median nerve. Early diagnosis and proper management are important, as muscle atrophy and sensory loss may persist when surgical release is delayed in patients with advanced disease.
Atrophy ; Braces ; Carpal Tunnel Syndrome ; Decompression ; Diagnosis ; Early Diagnosis ; Fingers ; Hand ; Hand Strength ; Humans ; Hypesthesia ; Ligaments ; Magnetic Resonance Imaging ; Median Nerve* ; Median Neuropathy ; Muscles ; Muscular Atrophy ; Nerve Expansion ; Neuritis ; Paresthesia ; Physical Examination ; Sensation ; Thumb ; Ultrasonography ; Upper Extremity

OBJECTIVETo explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).

METHODSDNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.

RESULTSBoth families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.

CONCLUSIONThe clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.

Adolescent ; Adult ; Aged ; Atrophy ; genetics ; Basal Ganglia Diseases ; diagnosis ; genetics ; DNA Mutational Analysis ; Dentate Gyrus ; pathology ; Family Health ; Female ; Globus Pallidus ; pathology ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Pedigree ; Trinucleotide Repeat Expansion ; genetics ; Young Adult

OBJECTIVETo study the clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang.

METHODSClinical manifestation and brain MRI data 18 patients with SCA in family were analyzed. The gene mutations of 18 patients and 10 family numbers without abnormal presentation, and 12 healthy persons of controls.

RESULTSThe gene mutations of 18 patients is SCA3/MJD, and 2 asymptomatic SCA3/MJD had been detected in SCA family. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 27, patients from 67 to 82, asymptomatic and carrier SCA3/MJD from 28 to 45. The main features of 18 patients included gait ataxia, ambiguity in speech and action clumsiness. Brain MRI showed remarkable atrophy on cerebellum and brain stem.

CONCLUSIONCAG expansions were related to SCA3/MJD. The clinical manifestations are ataxia and dysarthria. The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.

Adolescent ; Adult ; Ataxin-3 ; Brain ; diagnostic imaging ; China ; Female ; Humans ; Machado-Joseph Disease ; diagnosis ; diagnostic imaging ; genetics ; Male ; Middle Aged ; Mutation ; Nerve Tissue Proteins ; genetics ; Nuclear Proteins ; genetics ; Pedigree ; Radiography ; Repressor Proteins ; genetics ; Trinucleotide Repeat Expansion ; Young Adult

OBJECTIVETo make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease (HD) family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD.

METHODSAccording to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods.

RESULTSEight of twenty-five family members carried abnormal allele: III(10), III(12), III(14), IV(3), and V(2) carried (CAG) (48), IV(11) and IV(12) carried (CAG) (67), and IV(14) carried (CAG) (63), in contrast with the 8-25 CAG trinucleotides in the members of control group. IV(14) carried 15 more CAG trinucleotides than her father III(10).

CONCLUSIONThe results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation (characterized by earlier age of onset and increasing severity) of the patient IV(12).

Adult ; Child ; Family Health ; Female ; Humans ; Huntingtin Protein ; Huntington Disease ; genetics ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Nuclear Proteins ; genetics ; Polymorphism, Genetic ; Sequence Analysis, DNA ; methods ; Trinucleotide Repeat Expansion ; genetics

OBJECTIVETo investigate the CAG trinucleotide repeat expansion in spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, 12, and 17 from Chinese Han.

METHODSThe pathological CAG triplet repeat expansions of the SCA1, SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA12 and SCA17 genes were analyzed in a cohort of 559 Mainland Chinese patients affected by spinocerebellar ataxia, including 363 probands from families with autosomal dominant SCA and 196 sporadic cases. Polymerase chain reaction, agarose gel electrophoresis, recombinant DNA technology by T-vector cloning and direct sequencing were performed to detect the CAG-repeat number of abnormal allele.

RESULTSAmong the 559 SCA patients, twenty-three were positive for SCA1, the ranges of expanded CAG repeats were from 39 to 60 (mean:51.09+/-4.88); thirty-two were positive for SCA2, the ranges of expanded CAG repeats were from 36 to 51 (mean:40.34+/-4.40); three hundred and five were positive for SCA3/MJD, the ranges of expanded CAG repeats were from 49 to 86 (mean:73.84+/-5.07); nine were positive for SCA6, the ranges of expanded CAG repeats were from 23 to 29 (mean:25.56+/-1.94); twenty-seven were positive for SCA7, the ranges of expanded CAG repeats were from 38 to 71(mean:58.22+/-10.90); three were positive for SCA12, the ranges of expanded CAG repeats were from 51 to 52 (mean:51.33+/-0.58); and finally, two were positive for SCA17, the range of expanded CAG repeats were from 53 to 55 (mean:54.00+/-1.41).

CONCLUSIONThe 39 CAG repeats of SCA1, 49 CAG repeats of SCA3 and 51 CAG repeats of SCA12 are all the shortest known causative expanded alleles, while the 86 CAG repeats of SCA3/MJD is the largest full expanded allele that has never been reported. Furthermore, it is the first report of SCA17 subtype in Mainland Chinese and first research that established the abnormal reference standard of CAG repeat number of different subtypes of SCA in Chinese Han.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; genetics ; Ataxin-7 ; Ataxins ; Base Sequence ; Child ; Child, Preschool ; Cohort Studies ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Nerve Tissue Proteins ; genetics ; Protein Phosphatase 2 ; genetics ; Spinocerebellar Ataxias ; ethnology ; genetics ; Trinucleotide Repeat Expansion ; Young Adult