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Objective: A prospective ultrasound study to analyze nerve size and its modifying factors in type 1 and type 2 diabetes mellitus. Methods: The cross-sectional areas (CSAs) of motor and sensory nerves in both upper and lower limbs were measured at 14 measurement points, using high resolution ultrasound in 26 patients with type 1 and 76 patients with type 2 diabetes, and in 50 control subjects. All diabetic patients underwent electrophysiological assessment to check for the presence of polyneuropathy. Results: Significant mild/moderate diffuse nerve enlargement was demonstrated in type 2 diabetes, more pronounced at compression sites versus non-compression sites, and on the upper limbs versus lower limbs (p value for pooled DM2 v. control group: <0.001). In type 1 diabetes, nerve enlargement was found only at one compression site (median nerve wrist; pâ¯=â¯0.002). No significant difference was found between patients with or without polyneuropathy. Conclusions: The primary predictors of nerve size in diabetes are anatomical location (i.e. compression sites versus non-compression sites, upper versus lower limbs) and type of diabetes. Changes occur before the electrophysiological signs of polyneuropathy are detected. Significance: Nerve ultrasound may contribute to early recognition of the neuropathic complications of diabetes.
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Hirayama disease is a motor neuron disease predominantly affecting adolescent males. The identifying feature of Hirayama disease is unilateral forearm and intrinsic muscle weakness that spares the brachioradialis, termed "oblique atrophy." Hirayama disease progresses slowly over several years, followed by an abrupt arrest. The pathognomonic finding is the anterior displacement of the cervical spinal cord with the detachment of the posterior dura. Systematic clinical evaluation and appropriate diagnostic studies are crucial to rule out a variety of compressive, immune-mediated, and genetic disorders. We present a patient with Hirayama disease whose hand function was improved dramatically by a tendon transfer after nearly 3 years without a definitive diagnosis and call attention to the hand surgeon's role in identifying this rare disease to enable timely functional restoration.
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Atrofias Musculares Espinais da Infância , Transferência Tendinosa , Masculino , Adolescente , Humanos , Atrofias Musculares Espinais da Infância/cirurgia , Atrofias Musculares Espinais da Infância/diagnóstico , Músculo Esquelético , Atrofia Muscular/cirurgia , Imageamento por Ressonância MagnéticaRESUMO
INTRODUCTION/AIMS: Hourglass-like constrictions (HGCs) occur in neuralgic amyotrophy (NA), but the earliest time at which they can be recognized by imaging is poorly understood. We aimed to determine the prevalence of abnormal imaging findings in the acute phase of NA. METHODS: Magnetic resonance neurography (MRN) and high-resolution ultrasound (US) examinations were performed at five sites. The investigation included 39 patients with acute NA who underwent imaging within 31 days of symptom onset. Correlation between imaging and electromyography (EMG) findings was measured. RESULTS: US was performed in 29 patients and MRN in 23; 16 patients underwent US only, 10 MRN only, and 13 had both. US and MRN showed nerve abnormalities within 1 mo from NA onset in 90% of patients. HGCs were found in 74% (29/39) of the patients: 4 within 1 wk, 8 within 2 wk, 5 within 3 wk, and 12 within 4 wk. The earliest HGC on US was found within 12 h, and on MRN within 3 days from symptom onset. MRN demonstrated a denervation edema pattern of affected muscles in 91% of the patients. The shortest time to observe an edema pattern on MRN was 8 days. EMG was performed in 30 patients and revealed fibrillation potentials in affected muscles in 22 (73%). A denervation edema pattern on MRN was significantly associated with the presence of HGCs both on MRN and US, and with fibrillation potentials on EMG. DISCUSSION: In the early phase of NA, US and MRN are useful diagnostic techniques for demonstrating nerve abnormalities.
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Neurite do Plexo Braquial , Tecido Nervoso , Humanos , Neurite do Plexo Braquial/diagnóstico por imagem , Ultrassonografia , Imageamento por Ressonância Magnética/métodosRESUMO
We investigated the diagnostic utility of combined nerve and vascular ultrasound in thoracic outlet syndrome (TOS) in a retrospective cohort study on two sites, involving 167 consecutive patients with the clinical symptoms suggestive of neurogenic and/or vascular TOS, and an age- and sex-matched control group. All patients and control subjects underwent nerve ultrasound of the supraclavicular brachial plexus to look for fibromuscular anomalies / compression of the brachial plexus in the scalenic region, and vascular ultrasound of the infraclavicular subclavian artery with the arm in neutral and abducted position, serving as an indicator for costoclavicular compression of the neurovascular bundle. Based on clinical symptoms, neurogenic TOS (81%) was the most frequent type of TOS, followed by combined neurogenic and arterial TOS (8%). The frequency of abnormal nerve and/or vascular ultrasound findings differed significantly from the control group (P<0.00001). The pooled sensitivity was 48% for nerve ultrasound, 85% for vascular ultrasound, and 94% when combined. Among the findings, the fibromuscular 'wedge-sickle sign', indicating compression of the lower trunk in the scalenic region by a congenital fibromuscular anomaly (e.g. Roos ligaments), showed the highest specificity (100%). A bony 'wedge-sickle sign' was also delineated, where lower trunk compression is caused by the neck of the 1st rib. As implied by the higher sensitivity of vascular ultrasound, the most common site of compression was the costoclavicular space, but multilevel compression was also frequently observed. In summary, combined nerve and vascular ultrasound is a sensitive and reliable method to support the diagnosis of TOS. It can also identify the site(s) of compression, with obvious therapeutic consequences.
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Anemia Falciforme , Plexo Braquial , Síndrome do Desfiladeiro Torácico , Anemia Falciforme/complicações , Humanos , Estudos Retrospectivos , Síndrome do Desfiladeiro Torácico/diagnóstico por imagem , Síndrome do Desfiladeiro Torácico/etiologia , Ultrassonografia/efeitos adversosRESUMO
Expert consensus was sought to guide clinicians on the use of electrodiagnostic tests (EDX) and neuromuscular ultrasound (NMUS) in the investigation of suspected carpal tunnel syndrome (CTS). Consensus was achieved using the Delphi method via three consecutive anonymised surveys of 15 experts and was defined as rating agreement ≥ 80%. The panel agreed that combining EDX and NMUS is more informative than using each modality alone. NMUS adds value in patients with clinically suspected CTS with non-localizing or normal EDX, atypical EDX, failed CTS surgery, polyneuropathy, and CTS suspected to be secondary to structural pathology. The median nerve cross-sectional area should be measured at the site of maximal nerve enlargement, and the nerve should be scanned from mid-forearm to the palm. The group also identified those situations where the wrist-to-forearm area ratio and longitudinal scans of the median nerve should also be obtained. EDX should always be performed to quantify CTS severity and in individuals over age 70. This document is an initial step to guide clinicians on the combined investigation of CTS using EDX and NMUS, to be updated regularly with the emergence of new research.
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Síndrome do Túnel Carpal/diagnóstico , Eletrodiagnóstico/métodos , Ultrassonografia/métodos , Síndrome do Túnel Carpal/diagnóstico por imagem , Síndrome do Túnel Carpal/fisiopatologia , Consenso , Eletrodiagnóstico/normas , Humanos , Junção Neuromuscular/diagnóstico por imagem , Junção Neuromuscular/fisiologia , Guias de Prática Clínica como Assunto , Ultrassonografia/normasRESUMO
BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited disease, where the mutation of the transthyretin gene (TTR) results in the deposition of pathogenic protein fibrils in various tissues. The mutation type influences the clinical course. Until now, no data were available on the genotype, phenotype, and prevalence of Hungarian ATTRv patients. The aim of our study was to assess the prevalence, regional distribution, genotypes, and phenotypes of Hungarian patients with ATTRv. METHODS: With the collaboration of Hungarian regional and university centers, we identified patients diagnosed with ATTRv. We also searched prior publications for case studies of Hungarian ATTRv patients. RESULTS: 40 individuals in 23 families with ATTRv were identified within the borders of Hungary. At the time of the diagnosis, 24 of them were symptomatic. The two most common mutations were ATTRHis88Arg (nine families) and ATTRIle107Val (8 families). ATTRVal30Met was demonstrated in 2 families, and ATTRVal122del, ATTRPhe33Leu, ATTRIle84Ser, and ATTRAsp18Gly in one family each. The median age of the symptomatic patients at the time of clinical diagnosis was 65 years. The most common clinically significant organ involvement was restrictive cardiomyopathy, found in 24 patients. Polyneuropathy was diagnosed in 20 patients. A total of 19 patients showed a mixed phenotype. The leading symptom was heart failure in 8 cases (3 of them had only cardiac symptoms), polyneuropathy in 11 cases (all of them also had cardiac symptoms), and equally severe cardiac and neuropathy symptoms were present in 3 cases. Out of 24 symptomatic patients, 10 received targeted pharmacological therapy. The follow-up period ranged from 1 to 195 months. At the time of the retrospective analysis, 12 patients had already died, and 1 patient underwent heart transplantation. CONCLUSIONS: As TTR genotype influences the phenotype and clinical course of ATTRv, it is important to know the regional data. In Hungary, ATTRHis88Arg and ATTRIle107Val are the most common mutations in ATTRv, both presenting with mixed phenotype, but the median age at the time of the diagnosis is 9 years lower in patients with ATTRHis88Arg than in patients with ATTRIle107Val.
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Neuropatias Amiloides Familiares/genética , Adulto , Idoso , Neuropatias Amiloides Familiares/epidemiologia , Neuropatias Amiloides Familiares/patologia , Feminino , Humanos , Hungria/epidemiologia , Masculino , Pessoa de Meia-Idade , PrevalênciaRESUMO
The addition of ultrasound (US) to electrodiagnostic (EDX) tests can significantly enhance the accuracy of testing for ulnar neuropathy at the elbow (UNE). We aimed to obtain expert consensus to guide clinicians on the combined use of EDX and US in UNE investigation. Consensus was achieved using the Delphi method. Two consecutive anonymised questionnaires were submitted to 15 experts, who were asked to choose their level of agreement with each statement. Consensus was pre-defined as ≥ 80% rating agreement. The experts concluded that all investigations of UNE should include both nerve conduction studies and US. There was consensus that US should include cross-sectional area measurement and assessment of nerve mobility at the elbow, and that the entire ulnar nerve should be imaged. This study defined expert opinion on the 'core' techniques that should be used routinely in the UNE investigation using EDX and US. Areas with lack of consensus highlighted some controversial issues in the current use of these diagnostic modalities and the need for future research. This document is an initial step to guide clinicians on the combined investigation of UNE using EDX and US, to be regularly updated as new research emerges.
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Conferências de Consenso como Assunto , Eletrodiagnóstico/métodos , Neuropatias Ulnares/diagnóstico , Ultrassonografia/métodos , Cotovelo/diagnóstico por imagem , Cotovelo/fisiopatologia , Eletrodiagnóstico/normas , Humanos , Guias de Prática Clínica como Assunto , Neuropatias Ulnares/diagnóstico por imagem , Neuropatias Ulnares/fisiopatologia , Ultrassonografia/normasRESUMO
PURPOSE: Wide variability in the recovery of patients affected by neuralgic amyotrophy (NA) is recognized, with up to 30% experiencing residual motor deficits. Using magnetic resonance imaging and ultrasound (US), we identified hourglass constrictions (HGCs) in all affected nerves of patients with chronic motor paralysis from NA. We hypothesized that chronic NA patients undergoing microsurgical epineurolysis and perineurolysis of constrictions would experience greater recovery compared with patients managed nonsurgically. METHODS: We treated 24 patients with chronic motor palsy from NA and HGCs identified on magnetic resonance imaging and US either with microsurgical epineurolysis and perineurolysis of HGCs (11 of 24) or nonsurgically (13 of 24). Muscle strength (both groups) and electrodiagnostic testing (EDX) (operative group) was performed before and after surgery. Preoperative EDX confirmed muscle denervation in the distribution of affected nerve(s). All patients met criteria for microneurolysis: 12 months without improvement since onset or failure of clinical and EDX improvement after 6 months documented by 3 successive examinations, each at least 6 weeks apart. RESULTS: Mean time from onset to surgery was 12.5 ± 4.0 months. Average time to most recent post-onset follow-up occurred at 27.3 months (range, 18-42 months; 15 nerves). Average time to latest follow-up among nonsurgical patients was 33.6 months (range, 18-108 months; 16 nerves). Constrictions involved individual fascicular groups (FCs) of the median nerve and the suprascapular, axillary and radial nerves proper (HGCs). Nine of 11 operative patients experienced clinical recovery compared with 3 of 13 nonsurgical patients. EMG revealed significant motor unit recovery from axonal regeneration in the operative group. CONCLUSIONS: Microsurgical epineurolysis and perineurolysis of FCs and HGCs was associated with significantly improved clinical and nerve regeneration at an average follow-up of 14.8 months compared with nonsurgical management. We recommend microneurolysis of HGCs and FCs as a treatment option for patients with chronic NA who have failed to improve with nonsurgical treatment. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
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Neurite do Plexo Braquial , Neurite do Plexo Braquial/terapia , Constrição , Humanos , Imageamento por Ressonância Magnética , Nervo Mediano , UltrassonografiaRESUMO
Inflammation contributes to the pathogenesis of low back pain and sciatica. Growing evidence suggests that elevated levels of some inflammatory biomarkers are associated with these conditions. Much of the research evaluating the association between pro- and anti-inflammatory cytokines, chemokines, other regulatory molecules, and low back pain and sciatica, focused on patients with chronic low back pain, while fewer studies addressed the issue of detectable biomarkers in the acute phase. Previous studies suggest that pro-inflammatory cytokines such as TNF-α, IL-6, and IL-8 and anti-inflammatory IL-4 and IL-10 play an important role in the inflammatory response following intervertebral disc herniation. According to the approach of personalized medicine it is important to identify subsets of patients within the acute patient group regarding etiology, prognosis and treatment. In addition, if we can identify subgroups based on levels of pro-inflammatory biomarkers, where inflammation may be the leading cause of pain, we assume that this subgroup would likely be effectively treated with anti-inflammatory medication. The efficacy of TNF-α inhibitors and IL-6 inhibitors in treating low back pain and sciatica has already been tested in clinical trials, but further studies are required. Overall, identification of circulating biomarkers of acute low back pain and sciatica may assist in refining personalized diagnosis and treatment. Further research is needed to evaluate the role of inflammation in acute low back pain and sciatica, to identify what methods are appropriate for evaluation in clinical practice, and whether there are biomarkers of prognostic value in these patients. Orv Hetil. 2020; 161(13): 483-490.
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Citocinas/sangue , Deslocamento do Disco Intervertebral/sangue , Dor Lombar/sangue , Ciática/sangue , Biomarcadores/sangue , Humanos , Degeneração do Disco Intervertebral/sangue , Deslocamento do Disco Intervertebral/imunologia , Dor Lombar/etiologia , Ciática/imunologiaRESUMO
INTRODUCTION: In this study we tested the hypothesis that fascicular constrictions (FCs) of the median nerve proximal to the elbow joint characterize anterior interosseous nerve syndrome (AINS). METHODS: Magnetic resonance neurography (MRN) and ultrasound (US) examinations were evaluated in 45 patients with clinically suspected AINS. All 22 patients at site 1 underwent MRN and 8 underwent US; all 23 patients at site 2 underwent US. RESULTS: Median nerve FCs were identified in all MRN cases; FCs and/or fascicular enlargements were identified in 88% of US cases. Most FCs were in the mediannerve posterior/posteromedial region and were proximal to the elbow joint line (mean distance: MRN, 5.4 cm; US, 7.5 cm), with the exception of a single FC (located 1 cm distal). No extrinsic compression of median or anterior interosseous nerves was identified in the arm or forearm. DISCUSSION: AINS is a noncompressive neuropathy characterized by median nerve FCs in the arm.
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Nervo Mediano/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/patologia , Constrição Patológica/diagnóstico por imagem , Articulação do Cotovelo/inervação , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Nervo Mediano/patologia , Síndrome , UltrassonografiaRESUMO
BACKGROUND: The aim of this study was to further characterize the clinical phenotype of hepatitis E virus (HEV)-associated neuralgic amyotrophy (NA). METHODS: Three patients with HEV-associated NA underwent clinical, electrodiagnostic, and ultrasound assessment. RESULTS: In all patients, symptoms developed in several phases within a time span of 4-6 weeks, with three or more nerves involved. Symptoms were bilateral in two. In two patients, nerves of the trunk and the lower limb were affected as well. In one patient, three bouts occurred, each heralded by an increase in pain. In the other two, pain subsided quickly and nerve damage developed in two phases. Segmental enlargement with or without hourglass-like constrictions of the nerves was demonstrated by ultrasound in all. CONCLUSIONS: The multiphasic presentation, together with the extensive multi-nerve involvement, may reflect a severe and protracted inflammation of the nerves in HEV-associated NA.
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Neurite do Plexo Braquial/diagnóstico , Neurite do Plexo Braquial/etiologia , Hepatite E/complicações , Adulto , Plexo Braquial/diagnóstico por imagem , Neurite do Plexo Braquial/diagnóstico por imagem , Eletrodiagnóstico , Eletromiografia , Hepatite E/diagnóstico por imagem , Humanos , Masculino , Nervo Mediano/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Fenótipo , Nervos Espinhais/diagnóstico por imagem , Nervos Torácicos/diagnóstico por imagem , UltrassonografiaRESUMO
PURPOSE: Stroke is a leading cause of death in developed countries. Recently, its connection with oral health has been a focus of the medical literature. The aim of this study was therefore to statistically examine the oral health of subjects who previously suffered from stroke and provide a guide for the dental treatment of these patients. MATERIALS AND METHODS: Stroke patients at least one year after the stroke episode and age- and sex-matched healthy controls were examined: dental and medical stroke histories were recorded, followed by a detailed orofacial examination. A categorisation into three 'dental' subgroups of stroke patients was carried out based on their residual symptoms, the functional deficiency of limbs, and chewing and swallowing difficulties. Indices quantifying oral hygiene (OHI-S), dental status explained by the number of decayed, missing, and filled teeth (DMFT), periodontal status (CAL, CPITN, Mühlemann index), and the status of prosthetic treatment (prosthetic index) were assessed. Statistical comparison was performed between the patient and age- and sex-matched control subjects, as well as between subgroups of stroke patients. RESULTS: One hundred two stroke patients and 98 healthy age- and sex-matched control subjects were examined. The oral health and dental status of stroke patients was worse compared with the control group. Stroke patients had significantly more decayed (2.3 ± 3 vs1.1 ± 1.8; p = 0.01) and missing (19.3 ± 9.5 vs 15.5 ± 9.3; p = 0.005) teeth, but significantly fewer filled (3.6 ± 4.7 vs 7.7 ± 5.6; p < 0.001) teeth than did the healthy controls. In stroke patients, clinical attachment loss (CAL) was double that of the control group (p < 0.001). A comparison between the subgroups of stroke patients revealed that the most severe findings were in patients who had chewing and swallowing disabilities. DISCUSSION: According to these results, the combination of risk factors of stroke, residual neurological signs after stroke, and poorer socioeconomic conditions results in poor oral hygiene, poor dental and periodontal conditions, and a lower prosthetic index. Special care and attention should be given to the oral hygiene and dental treatment of such patients, to enable good nourishment.
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Índice CPO , Saúde Bucal , Perda da Inserção Periodontal/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Hungria/epidemiologia , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Hypervascularization of nerves has been shown to be a pathological sign in some peripheral nerve disorders, but has not been investigated in nerve trauma. METHODS: An observational cohort study was performed of the intraneural blood flow of 30 patients (34 nerves) with penetrating nerve injuries, before or after nerve reconstruction. All patients underwent electrophysiological assessment, and B-mode and color Doppler ultrasonography. RESULTS: Intraneural hypervascularization proximal to the site of injury was found in all nerves, which was typically marked and had a longitudinal extension of several centimeters. In 6 nerves, some blood flow was also present within the injury site or immediately distal to the injury. No correlation was found between the degree of vascularization and age, size of the scar / neuroma, or degree of reinnervation. DISCUSSION: Neovascularization of nerves proximal to injury sites appears to be an essential element of nerve regeneration after penetrating nerve injuries. Muscle Nerve 57: 994-999, 2018.
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Neovascularização Patológica/diagnóstico por imagem , Traumatismos dos Nervos Periféricos/diagnóstico por imagem , Ultrassonografia , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Traumatismos do Sistema Nervoso/diagnóstico por imagem , Adulto JovemAssuntos
Síndromes de Compressão Nervosa/diagnóstico por imagem , Nervo Tibial/diagnóstico por imagem , Nervo Ulnar/diagnóstico por imagem , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes de Compressão Nervosa/fisiopatologia , Nervo Tibial/fisiopatologia , Nervo Ulnar/fisiopatologia , UltrassonografiaRESUMO
Charcot-Marie-Tooth neuropathy (CMT) is a genetically and clinically heterogeneous group of neuromuscular disorders with an overall prevalence of 1 per 2500. Here we report the first comprehensive genetic epidemiology study of Hungarian CMT patients. 409 CMT1 and 122 CMT2 patients were enrolled and genetic testing of PMP22, GJB1, MPZ, EGR2 and MFN2 genes were performed routinely. NDRG1 and CTDP1 genes were screened only for founder mutations in Roma patients. Causative genetic mutations were identified in 67.2% of the CMT1 and in 33.6% of the CMT2 cases, which indicates an overall success rate of 59.9% in the study population. Considering all affected individuals, alterations were most frequently found in PMP22 (40.5%), followed by GJB1 (9.2%), MPZ (4.5%), MFN2 (2.5%), NDRG1 (1.5%), EGR2 (0.8%) and CTDP1 (0.8%). The phenotypic spectrum and the disease severity of the studied patients also varied broadly. Deafness and autoimmune disorders were more often associated with PMP22 duplication, while MFN2 and GJB1 mutations were frequently present with central nervous system abnormalities. Our study may be helpful in determining the strategy of genetic diagnostics in Hungarian CMT patients.
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Doença de Charcot-Marie-Tooth/epidemiologia , Doença de Charcot-Marie-Tooth/genética , Adulto , Idade de Início , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/fisiopatologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Hungria/epidemiologia , Masculino , Mutação , Fenótipo , Índice de Gravidade de DoençaRESUMO
INTRODUCTION: The aim of this study was to assess the value of ultrasonography in neuralgic amyotrophy. METHODS: Fifty-three patients with 70 affected nerves were examined with high-resolution ultrasound. RESULTS: The most commonly affected nerve was the anterior interosseous (23%). Ultrasonographic abnormalities in the affected nerves, rather than in the brachial plexus, were observed, with an overall sensitivity of 74%. Findings included the swelling of the nerve/fascicle with or without incomplete/complete constriction and rotational phenomena (nerve torsion and fascicular entwinement). A significant difference was found among the categories of ultrasonographic findings with respect to clinical outcome (P = 0.01). In nerves with complete constriction and rotational phenomena, reinnervation was absent or negligible, indicating surgery was warranted. DISCUSSION: Ultrasonography may be used as a diagnostic aid in neuralgic amyotrophy, which was hitherto a clinical and electrophysiological diagnosis, and may also help in identifying potential surgical candidates. Muscle Nerve 56: 1054-1062, 2017.
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Neurite do Plexo Braquial/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neurite do Plexo Braquial/fisiopatologia , Estudos de Coortes , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Ultrassonografia/normas , Adulto JovemRESUMO
OBJECTIVE: A retrospective study to investigate the utility of ultrasonographic carpal tunnel outlet measurements in the diagnosis of carpal tunnel syndrome (CTS). METHODS: 118 hands of 87 patients with electrophysiologically confirmed CTS and 44 control hands of 23 subjects were assessed. Cross-sectional areas (CSA) of the median nerve were measured at the tunnel inlet, outlet, and forearm. Longitudinal diameters (LAPD) were measured at the inlet, proximal tunnel, distal tunnel, and outlet. RESULTS: CSA at the outlet (median: 18mm2) and its palm-to-forearm-ratio (median: 2.7) were significantly larger than CSA at the inlet (median: 15mm2) and its wrist-to-forearm-ratio (median: 2.2) (p<0.001). 27% of the hands showed enlargement only at the outlet versus 13% only at the inlet. LAPD jump was significantly greater, suggesting relief of higher pressure, at the outlet/distal tunnel versus inlet/proximal tunnel (p<0.001). CONCLUSION: Median nerve enlargement in CTS is greater at the tunnel outlet than at the inlet. We postulate that this is explained by the progressive increase of pressure within the tunnel from proximal to distal. SIGNIFICANCE: The addition of CSA outlet measurements to inlet measurements increased CTS ultrasonographic diagnostic sensitivity and accuracy by 15% and 10%, respectively.
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Síndrome do Túnel Carpal/diagnóstico por imagem , Síndrome do Túnel Carpal/fisiopatologia , Nervo Mediano/diagnóstico por imagem , Nervo Mediano/fisiopatologia , Ultrassonografia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Mãos/diagnóstico por imagem , Mãos/inervação , Mãos/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Estudos Retrospectivos , Ultrassonografia/métodos , Adulto JovemRESUMO
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.2 The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B. These proteins are expressed in the trans-Golgi network that guides copper to intracellular compartments, and in copper excess, it relocates copper to the plasma membrane to pump it out from the cells.3ATP7B mutations cause Wilson disease with dystonia, ataxia, tremor, and abnormal copper accumulation in the brain, liver, and other organs.4.
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Pathogenic variants of the gap junction beta 1 (GJB1) gene are responsible for the Charcot-Marie-Tooth neuropathy X type 1 (CMTX1). In this study, we report the mutation frequency of GJB1 in 210 Hungarian CMT patients and the phenotype comparison between male and female CMTX1 patients. Altogether, 13 missense substitutions were found in the GJB1 gene. Among them, 10 have been previously described as pathogenic variants (p.Arg15Trp, p.Val63Ile, p.Leu89Val, p.Ala96Gly, p.Arg107Trp, p.Arg142Gln, p.Arg164Trp, p.Arg164Gln, p.Pro172Ala and p.Asn205Ser), while 3 were novel, likely pathogenic alterations (p.Val13Glu, p.Glu186Gly, p.Met194Ile). These variants were not present in controls and were predicted as disease causing by in silico analysis. The frequency of the variants was 6.7% in our cohort which refers to a common cause of hereditary neuropathy among Hungarian patients. In addition to the classical phenotype, CNS involvement was proved in 26.1% of the CMTX1 patients. GJB1 pathogenic alterations were found mainly in males but we also detected them in female probands. The statistical analysis of CMTX1 patients revealed a significant difference between the two genders regarding the age of onset, Charcot-Marie-Tooth neuropathy and examination scores.
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Doença de Charcot-Marie-Tooth/epidemiologia , Doença de Charcot-Marie-Tooth/genética , Conexinas/genética , Mutação de Sentido Incorreto , Adulto , Idade de Início , Estudos de Coortes , Feminino , Humanos , Hungria/epidemiologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Índice de Gravidade de Doença , Fatores Sexuais , Proteína beta-1 de Junções ComunicantesRESUMO
Thoracic outlet syndrome (TOS) is a disorder characterized by compression of the lower trunk of the brachial plexus, most often in association with anomalous congenital fibromuscular bands in the scalenic region. Early diagnosis is important, because the neurologic deficit associated with TOS may be irreversible. Using high-resolution ultrasound, we investigated 20 consecutive patients with clinical signs suggestive of TOS (all females, average age: 40.4 ± 14.9 y) and 25 control patients. In 19 patients, we identified a hyper-echoic fibromuscular structure at the medial edge of the middle scalene muscle, which indented the lower trunk of the brachial plexus ("wedge-sickle sign"). It was associated with the significant enlargement (p < 0.0001) and hypo-echogenicity of the lower trunk. This novel and distinctive ultrasonographic sign allows pre-surgical identification of anomalous fibromuscular bands causing TOS. It is especially useful in patients without neurologic deficit, in whom the diagnosis may not be as straightforward.