Lower Extremity Involvement Research Articles

Restless leg syndrome and associated factors in patients with paralytic poliomyelitis

The aim of this study was to assess the presence of Restless Leg Syndrome (RLS) in patients with poliomyelitis, and associated factors. Forty-six patients with paralytic poliomyelitis who were followed-up in 2014 were included in the study. The RLS diagnosis was made according to the survey forms by International Restless Legs Syndrome Study Group. The RLS rating scale was used to rate the disease severity. The Pittsburgh sleep quality index (PSQI) was used to assess sleep quality. The Beck depression inventory was used in order to evaluate depression. Forty-six patients (30 males, 16 females) were included in the study. The mean age was 54.1 ± 5.8 years. Eighteen patients (39.1%) were diagnosed with RLS. For patients with RLS, the mean age at poliomyelitis onset was 2.4 ± 1.1 years; on the other hand, the mean age at poliomyelitis onset was 6.8 ± 3.8 years for patients without RLS (P = 0.03). Bilateral extremity involvement was detected in four patients with RLS, and one patient without RLS (P = 0.01). We did not find a significant difference in depression scores between the groups (P = 0.541). The PSQI score was significantly higher in RLS patients (P = 0.01). RLS is more common in patients with poliomyelitis, compared to the general population. Patients, especially those who have bilateral lower extremity involvement and low age at poliomyelitis onset, might be at risk for RLS development. Further studies are required to evaluate the mechanisms that could explain RLS development and disease-associated factors.

Risk of falls in patients with ankylosing spondylitis.

Risk of vertebral fractures is increased in patients with ankylosing spondylitis (AS). The underlying mechanisms for the elevated fracture risk might be associated with bone and fall-related risks. The aims of this study were to evaluate the risk of falls and to determine the factors that increase the risk of falls in AS patients. Eighty-nine women, 217 men, a total of 306 AS patients with a mean age of 40.1 ± 11.5 years from 9 different centers in Turkey were included in the study. Patients were questioned regarding history of falls within the last 1 year. Their demographics, disease characteristics including Bath AS Disease Activity Index, Bath AS Metrology Index (BASMI), Bath AS Functional Index (BASFI), and risk factors for falls were recorded. The Short Physical Performance Battery (SPPB) test was used for evaluation of static and dynamic balance. Erythrocyte sedimentation rate, C-reactive protein, and 25-hydroxyvitamin D levels were measured. Forty of 306 patients reported at least 1 fall in the recent 1 year. The patients with history of falls had higher mean age and longer disease duration than did nonfallers (P = 0.001). In addition, these patients' BASMI and BASFI values were higher than those of nonfallers (P = 0.002; P = 0.000, respectively). We found that the patients with history of falls had lower SPPB scores (P = 0.000). We also found that the number of falls increased with longer disease duration and older age (R = 0.117 [P = 0.041] and R = 0.160 [P = 0.005]). Our results show that decreased SPPB scores were associated with increased number of falls (R = 0.183, P = 0.006). Statistically significant correlations were found between number of falls and AS-related lost job (R = 0.140, P = 0.014), fear of falling (R = 0.316, P = 0.000), hip involvement (R = 0.112, P = 0.05), BASMI (R =0.234, P = 0.000), and BASFI (R = 0.244, P = 0.000). Assessment of pain, stiffness, fatigue, and lower-extremity involvement as well as asking for a history of falls will highlight those at high risk for further falls. In addition to the general exercise program adopted for all patients, we suggest that a balance rehabilitation program should be valuable for the patients with risk factors for fall. Exercise may improve fear of falling and BASFI and BASMI scores. However, further study is needed to investigate these hypotheses. We believe that clinicians should train and support the patients via reducing fear of falls and maintaining good posture and functional capacity.

Treating cutaneous T-cell lymphoma with highly irregular surfaces with photon irradiation using rice as tissue compensator.

Purpose: Cutaneous T-cell lymphoma (CTCL) is known to have an excellent response to radiotherapy, an important treatment modality for this disease. In patients with extremity and digit involvement, the irregular surface and depth variations create difficulty in delivering a homogenous dose using electrons. We sought to evaluate photon irradiation with rice packing as tissue equivalence and determine clinical tolerance and response.Materials and methods: Three consecutive CTCL patients with extensive lower extremity involvement including the digits were treated using external beam photon therapy with rice packing for tissue compensation. The entire foot was treated to 30–40 Gy in 2–3 Gy per fraction using 6 MV photons prescribed to the mid-plane of an indexed box filled with rice in which the foot was placed. Treatment tolerance and response were monitored with clinical evaluation.Results: All patients tolerated the treatment without treatment breaks. Toxicities included grade 3 erythema and desquamation with resolution within 4 weeks. No late toxicities were observed. All patients had a partial response by 4 weeks after therapy with two patients achieving a complete response. Patients reported improved functionality after treatment. No local recurrence has been observed.Conclusion: Tissue compensation with rice packing offers a convenient, inexpensive, and reproducible method for the treatment of CTCL with highly irregular surfaces.

Male genital lymphedema: clinical features and management in 25 pediatric patients

PurposeGenital lymphedema in the pediatric population is poorly understood. The purpose of this study was to determine the epidemiology, morbidity, and treatment outcomes for males with genital lymphedema. Materials and methodsMale patients with genital lymphedema evaluated at our vascular anomalies center between 1995 and 2011 were reviewed. Etiology, age-of-onset, location, morbidity, and treatment were analyzed. ResultsOf the 3889 patients with vascular anomalies, 25 (0.6%) had genital lymphedema: 92% (23/25) with primary and 24.0% (6/25) with familial/syndromic lymphedema. For primary disease, the mean age-of-onset was 4.5±6.3years with 60.9% (14/23) presenting in infancy, 13.0% (3/23) in childhood, and 26.1% (6/23) in adolescence. Combined penoscrotal lymphedema was identified in 72.0% (18/25) of patients; 19 children (76.0%) had concomitant lower extremity involvement. The most common complication was cellulitis (24.0%). Surgical contouring was performed in 44.0% (11/25) of patients. Patients with operative intervention and follow-up (n=6) had sustained improvement after a median of 4.2years (range: 0.3–11.0). ConclusionsLymphedema of the male genitalia is typically idiopathic. Most patients develop swelling in infancy but can present in adolescence and occasionally childhood. The penis and scrotum are usually both involved and concurrent lower-extremity swelling is common. Surgical debulking can improve symptoms and appearance.

Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations

The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. We studied 553 AJ PD patients, including 65 patients who were previously reported, from three sites (two in New York and one in Tel-Aviv). Glucocerebrosidase (GBA) mutation carriers were excluded. Evaluations included the Montreal Cognitive Assessment (MoCA), the Unified Parkinson's Disease Rating Scale (UPDRS), the Geriatric Depression Scale (GDS) and the Non-Motor Symptoms (NMS) questionnaire. Regression models were constructed to test the association between clinical and demographic features and LRRK2 status (outcome) in 488 newly recruited participants. LRRK2 G2019S carriers (n = 97) and non-carriers (n = 391) were similar in age and age at onset of PD. Carriers had longer disease duration (8.6 years vs. 6.1 years; P < 0.001), were more likely to be women (51.5% vs. 37.9%; P = 0.015), and more often reported first symptoms in the lower extremities (40.0% vs. 19.2%; P < 0.001). In logistic models that were adjusted for age, disease duration, sex, education, and site, carriers were more likely to have lower extremity onset (P < 0.001), postural instability and gait difficulty (PIGD) (P = 0.043), and a persistent levodopa response for >5 years (P = 0.042). Performance on the UPDRS, MoCA, GDS, and NMS did not differ by mutation status. PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment.

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by deleterious SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogeneous and largely remain to be elucidated. In a Bulgarian family affected by autosomal-dominant proximal SMA, we performed genome-wide linkage analysis and whole-exome sequencing and found a heterozygous de novo c.320C>T (p.Ser107Leu) mutation in bicaudal D homolog 2 (Drosophila) (BICD2). Further analysis of BICD2 in a cohort of 119 individuals with non-5q SMA identified a second de novo BICD2 mutation, c.2321A>G (p.Glu774Gly), in a simplex case. Detailed clinical and electrophysiological investigations revealed that both families are affected by a very similar disease course, characterized by early childhood onset, predominant involvement of lower extremities, and very slow disease progression. The amino acid substitutions are located in two interaction domains of BICD2, an adaptor protein linking the dynein molecular motor with its cargo. Our immunoprecipitation and localization experiments in HeLa and SH-SY5Y cells and affected individuals' lymphoblasts demonstrated that p.Ser107Leu causes increased dynein binding and thus leads to accumulation of BICD2 at the microtubule-organizing complex and Golgi fragmentation. In addition, the altered protein had a reduced colocalization with RAB6A, a regulator of vesicle trafficking between the Golgi and the endoplasmic reticulum. The interaction between p.Glu744Gly altered BICD2 and RAB6A was impaired, which also led to their reduced colocalization. Our study identifies BICD2 mutations as a cause of non-5q linked SMA and highlights the importance of dynein-mediated motility in motor neuron function in humans.

Change in Gait Deviation Index after anti-tumour necrosis factor-α treatment in individuals with rheumatoid arthritis: a pilot study

Objectives: Anti-tumour necrosis factor-alpha (TNF-α) inhibitors provide fast, effective resolution of rheumatoid arthritis (RA) inflammation. In this study we aimed to quantify the impact of TNF-α treatment on gait dynamics.Method: The sample comprised 16 subjects [11 female, median age 56 (range 48–66) years, median disease duration 9.5 (range 4.6–20.6) years] with RA who met the American College of Rheumatology (ACR) criteria, had lower extremity involvement, did not use walking aids, and had started TNF-α treatment within 1 week of baseline gait analysis. Gait analysis focused on three-dimensional (3D) lower extremity joint kinematics, kinetics, time and distance parameters. The Gait Deviation Index (GDI) and GDI-Kinetic were calculated. Data on gait, disease activity, and physical disability were collected at baseline and at 3.5 months.Results: Following treatment with TNF-α, statistically significant improvements were found in disease activity [using the 28-joint Disease Activity Score based on C-reactive protein (DAS28-CRP); median difference (md) = 2.3, p < 0.01], physical disability [Health Assessment Questionnaire (HAQ) md = 0.4, p < 0.01], and pain during walking [visual analogue scale (VAS) md = 11.0, p < 0.05]. Reductions in gait deviations were noted (GDI md = 3.7, p = 0.04; GDI-Kinetic md = 4.1, p = 0.05) along with reductions in dimensionless time and distance parameters. A moderate to good negative correlation existed between baseline GDI and GDI change scores (rs = –0.7, p < 0.01).Conclusions: Treatment with TNF-α improved gait dynamics in adults with RA. Significant gait deviations were, however, still present after treatment. In this study, GDI and GDI-Kinetic scores appeared to be useful outcome measures to quantify changes in gait deviations after this intervention.

Mechanical and thermal hyperalgesia in patients with poliomyelitis

ObjectiveParalytic poliomyelitis (pPM) is clinically suspected in individuals experiencing a non-progressive syndrome of flaccid paralysis and atrophy as a sequel of an acute infection. Despite normal sensory perception, patients with pPM complain of pain more than matched siblings. Here, we studied the characteristics of evoked pain in a cohort of pPM patients using contact heat evoked potentials and psychophysical tests. MethodsFifteen patients with pPM and 15 controls were studied. Inclusion criteria were unilateral or asymmetric involvement of lower extremities. Mechanical, warm and heat pain perception thresholds and evoked pain were measured in both thighs. Contact heat evoked potentials were recorded from the vertex. ResultsMechanical and heat pain thresholds were significantly lower in the affected than in the less-affected leg or in the legs of controls. Evoked pain ratings were significantly higher in the affected leg than in either the less-affected leg or in controls. Evoked potentials were significantly higher in the affected than in the less-affected leg. ConclusionPatients with pPM have mechanical and thermal hyperalgesia, which suggests abnormalities in processing of somatosensory inputs in these patients. SignificanceThis phenomenon should be taken into account in the routine clinical evaluation and management of pPM patients.

Lower Extremity Involvement of a Primarily Intracranial Hydatid Cyst: A Case Report

Hydatid Cyst is a parasitic disease. The host is usually the intestine of dog . Hydatid cyst is caused by water and food contaminated with parasites’ larva. Primary intracranial cyst hydatids are rare. Approximately 75% of intracranial cyst hydatids are encountered in children. We report a pediatric case with intracerebral hydatid cyst occuring with a lower extremity involvement 5 months after the surgery with clinical,radiological and histopathological features.

Retrospective study of necrotizing fasciitis and characterization of its associated Methicillin-resistant Staphylococcus aureusin Taiwan

BackgroundMethicillin-resistant Staphylococcus aureus (MRSA) has emerged as a prevalent pathogen of necrotizing fasciitis (NF) in Taiwan. A four-year NF cases and clinical and genetic differences between hospital acquired (HA)- and community-acquired (CA)-MRSA infection and isolates were investigated.MethodsA retrospective study of 247 NF cases in 2004-2008 and antimicrobial susceptibilities, staphylococcal chromosomal cassette mec (SCCmec) types, pulsed field gel electrophoresis (PFGE) patterns, virulence factors, and multilocus sequence typing (MLST) of 16 NF-associated MRSA in 2008 were also evaluated.ResultsIn 247 cases, 42 microbial species were identified. S. aureus was the major prevalent pathogen and MRSA accounted for 19.8% of NF cases. Most patients had many coexisting medical conditions, including diabetes mellitus, followed by hypertension, chronic azotemia and chronic hepatic disease in order of decreasing prevalence. Patients with MRSA infection tended to have more severe clinical outcomes in terms of amputation rate (p < 0.05) and reconstruction rate (p = 0.001) than those with methicillin-sensitive S. aureus or non-S. aureus infection. NF patients infected by HA-MRSA had a significantly higher amputation rate, comorbidity, C-reactive protein level, and involvement of lower extremity than those infected by CA-MRSA. In addition to over 90% of MRSA resistant to erythromycin and clindamycin, HA-MRSA was more resistant than CA-MRSA to trimethoprim-sulfamethoxazole (45.8% vs. 4%). ST59/pulsotype C/SCCmec IV and ST239/pulsotype A/SCCmec III isolates were the most prevalent CA- and HA-MRSA, respectively in 16 isolates obtained in 2008. In contrast to the gene for γ-hemolysin found in all MRSA, the gene for Panton-Valentine leukocidin was only identified in ST59 MRSA isolates. Other three virulence factors TSST-1, ETA, and ETB were occasionally identified in MRSA isolates tested.ConclusionNF patients with MRSA infection, especially HA-MRSA infection, had more severe clinical outcomes than those infected by other microbial. The prevalent NF-associated MRSA clones in Taiwan differed distinctly from the most predominant NF-associated USA300 CA-MRSA clone in the USA. Initial empiric antimicrobials with a broad coverage for MRSA should be considered in the treatment of NF patients in an endemic area.

Restoration of Elbow Flexion with Functioning Free Muscle Transfer in Arthrogryposis

Arthrogryposis is a collective term applied to a variety of different syndromes characterized by nonprogressive, multiple joint contractures present at birth due to neurogenic, myopathic (amyoplasia), or connective-tissue disorders1-6. The most serious impairment of amyoplasia in the upper extremity is an inability to flex the elbow due to extension contracture of the elbow. The ability to flex one elbow is essential to enable a child to become functionally independent with self-feeding and self-care of the face and hair; extension of the other elbow is necessary for independent toileting7. Active elbow flexion is the definitive goal of surgical intervention. Multiple procedures6, including triceps transfer8-11, pectoralis major transfer11-14, latissimus dorsi transfer15,16, and the Steindler flexorplasty12,16,17, have been used to provide active elbow flexion in patients with arthrogryposis. However, these conventional procedures do not always provide satisfactory long-term function and may result in a decreased arc of elbow flexion and in flexion contracture because of weakness of the donor muscles. Free muscle transfer is a reliable procedure for restoration of elbow flexion following brachial plexus injury18-22. We present the long-term results of a functioning free muscle transfer with use of the gracilis muscle for restoration of elbow flexion in two patients with arthrogryposis. The patients and their parents were informed that data concerning the cases would be submitted for publication, and they provided consent. Case 1. A three-month-old boy with amyoplasia of both upper extremities without lower-extremity involvement was referred to our clinic for treatment (Fig. 1-A). The pectoralis major and latissimus dorsi muscles were hypoplastic and thus could not be used for transfer bilaterally. The patient underwent preoperative physiotherapy to improve passive …

Henoch-Schönlein Purpura After Influenza Vaccination

Henoch-Schonlein purpura (HSP) is defined as palpable purpura with lower extremity involvement and at least one of the following features: diffuse

The Underutilization of Intrathecal Baclofen in Poststroke Spasticity

Stroke is one of the leading causes of adult disability in the United States, with a reported prevalence of 6.4 million people. Spasticity is one of the clinical features of the upper motor neuron syndrome seen after a stroke. The prevalence of spasticity after a stroke ranges from 17% to 42.6%, and an average of two-thirds of people with spasticity have upper and lower extremity involvement. Oral medications and botulinum neurotoxin injections are current treatments for problematic spasticity. However, these treatments are often limited by side effects or dose ceilings. Intrathecal baclofen (ITB) is a proven method for the management of disabling spasticity from multiple etiologies. Studies have demonstrated improved mobility, activities of daily living, and quality of life in spastic poststroke patients. Despite the benefits of ITB, fewer than 1% of stroke patients with severe disabling spasticity are being treated with ITB. This article will review the prevalence of severe poststroke spasticity and the rate of ITB use and will discuss reasons for its limited use in stroke survivors.

Predicting arthritis outcomes--what can be learned from the Leiden Early Arthritis Clinic?

In order to allow personalized medicine, adequate prediction of disease outcome is required. In early undifferentiated arthritis (UA), prediction of the development of RA is crucial, and in case of RA predicting the severity of the disease course may guide individualized treatment decisions. A total of 570 UA patients and 676 RA patients included in the Leiden Early Arthritis Clinic cohort were studied for baseline characteristics. The disease outcomes studied were fulfillment of the 1987 ACR-RA criteria and arthritis persistence in UA patients and the rate of radiological joint destruction and achieving sustained DMARD-free remission in RA patients. Predictive factors for fulfillment of the 1987 ACR-RA criteria and for persistent arthritis in UA were largely similar. Risk factors for a severe rate of joint destruction were: older age (P<0.001); male gender (P<0.001); longer symptom duration at first visit (P=0.048), involvement of lower extremities (P<0.001); BMI (P<0.001); high acute phase reactants, presence of IgM-RF (P<0.001); anti-CCP2 antibodies (P<0.001); anti-modified citrullinated vimentin antibodies (P<0.001) and HLA-DRB1 shared epitope alleles (P=0.001). A high BMI was associated with a lower rate of joint destruction but with a higher risk of disease persistence. The proportion of variance in joint destruction explained was 32% Predictors for RA development, previously used to develop a prediction rule in UA patients, are largely similar to predictors for arthritis persistency. Only part of the joint destruction level in RA is explained by the currently known risk factors. New factors need to be identified in order to guide pharmaceutical intervention at the level of individual RA patients.

Bone Mineral Density and Functional Measures in Patients With Arthrogryposis

Patients with arthrogryposis often report decreased ambulation and physical activity. Given that skeletal mineralisation is responsive to force, we identified the need to characterize bone mineral density and functional measures in this population, and conducted a cross-sectional study to establish a reference for future investigations. Thirty consecutive patients aged 5 to 18 years with either the diagnosis of amyoplasia or nonsyndromic arthrogryposis with predominantly lower extremity involvement underwent bone densitometry testing, and lumbar spine Z-scores were calculated against an age and sex-matched control population as is customary in children. Pediatric outcomes data collection instrument (PODCI) and functional independence measure for Children (WeeFIM) assessment forms were completed. Mean Z-scores, PODCI, and WeeFIM scores were calculated. Statistical analysis was performed to compare lumbar spine Z-scores between patients divided by ambulatory status and to correlate WeeFIM and PODCI scores. Mean lumbar spine Z-score was -0.47, with 73% of Z-scores being <0. Mean Z-score among nonambulators or home ambulators was -1.05, as compared to a mean Z-score among limited and unlimited community ambulators of -0.14 with a trend toward significance (P=0.10), and a dose-response relationship between higher bone density and increasing ambulatory function. Mean WeeFIM self-care and mobility quotient scores were 67.5/100 and 70.9/100, respectively. PODCI normative scores were decreased for upper extremity (10/50), transfer/basic mobility (-17/50), and sports/physical function (4/50), but normal in pain/comfort (45/50) and happiness (49/50). A linear relationship was noted between functional ambulation level and WeeFIM quotient and PODCI normative scores. There was good correlation between WeeFIM mobility and PODCI transfers and basic mobility standardised scores (R=0.86). This is the first study to measure bone mineral density in children with arthrogryposis, and shows it to be lower than age-matched means, especially in patients with limited ambulation. Objective measures of functional ability (WeeFIM and PODCI) are decreased and demonstrate a linear relationship with ambulatory level. Further investigation is needed to quantify long-term effects of entering adulthood with below average bone mineral density in patients with arthrogryposis. Level II.

Investigation of High-Sensitivity C-reactive Protein and Erythrocyte Sedimentation Rate in Low Back Pain Patients

BackgroundChronic low back pain can be a manifestation of lumbar degenerative disease, herniation of intervertebral discs, arthritis, or lumbar stenosis. When nerve roots are compromised, low back pain, with or without lower extremity involvement, may occur. Local inflammatory processes play an important role in patients with acute lumbosciatic pain. The purpose of this study was to assess the value of erythrocyte sedimentation rate (ESR) and high sensitivity C-reactive protein (hsCRP) measurements in patients with chronic low back pain or radiculopathy.MethodsESR and hsCRP were measured in 273 blood samples from male and female subjects with low back pain and/or radiculopathy due to herniated lumbar disc, spinal stenosis, facet syndrome, and other diseases. The hsCRP and ESR were measured prior to lumbar epidural steroid injection.ResultsThe mean ESR was 18.8 mm/h and mean hsCRP was 1.1 mg/L. ESR had a correlation with age.ConclusionsA significant systemic inflammatory reaction did not appear to arise in patients with chronic low back pain.

Chronic inflammatory demyelinating polyradiculoneuropathy in children: characterized by subacute, predominantly motor dominant polyeuropathy with a favorable response to the treatment

Chronic inflammatory demyelinating polyradiculopathy (CIDP) is less well-studied in children than in adults, probably due to its relative rarity. This study was performed in order to characterize the clinical features of CIDP in children. Twenty-eight patients with CIDP who were followed up for more than 1 year were included, and were divided into a child (n = 7, age <16) and an adult group (n = 21, age >or=16). Then, we have assessed the initial progression pattern, clinical course, and serial nerve conduction findings in each patient. Finally, differential features in child and adult group were analyzed. Distinguishing features in the child group include subacute progression within less than 2 months, predominant motor system involvement in lower extremities, and marked improvement in response to immune modulating therapy. Our study also suggested that serial nerve conduction study may be useful in assessing the effectiveness of the treatment in children. Our study showed that children with CIDP have some distinguishing features from adults in terms of clinical course and response to treatment.

Parry-Romberg Syndrome

Parry-Romberg syndrome (PRS) is an uncommon disorder and characterized by a slowly, an acquired progressive atrophy involving skin, soft tissue, cartilage, and bony structures. Accompanying atrophies of the other parts of the body are rarely reported. The aim of this study is to report a case that had contralateral lower extremity atrophy with PRS, and to review the related etiologic features, physiopathology, and mechanism. The patient who admitted for his facial atrophy also had atrophy of his contralateral extremity. This extremity was also short in length when compared with other extremity. To obtain detailed information regarding the severity of involvement routine laboratory investigations including antinuclear antibody (ANA), magnetic resonance imagine (MRI) of the craniofacial region and lower extremities, MR angiography of the lower extremities and brain, 3-dimension computed tomography (CT) scan of the craniofacial region were performed. Normal or negative laboratory findings included results of blood count, renal and hepatic function biochemical tests, rheumatoid factor, C-reactive protein, anti-dsDNA antibody except ANA that were positive. His lower extremity and brain MR angiography were normal. In the 3-dimensional cranial CT, there was no abnormality or defect in the bony structures. His brain MRI showed no pathologic changes, and his facial MRI demonstrated noteworthy atrophy to the sternocleidomastoid, masseter, pterygoid muscles, and subcutaneus soft tissues on the right side of the face. Additionally, MR investigation of his lower extremities revealed decreased volume in muscles and bony structures of the effected extremity compared with the other extremity, but pathologic evidence of fatty degeneration associated with muscle atrophy was not demonstrated. The patient had isolated contralateral lower extremity involvement combined with hemifacial atrophy (without affecting any other part of the body). Although more accepted theory is the sympathic nervous system dysfunction, autoimmunity may play a roll in the etiology of our case as ANA abnormality was found in multiple tests.

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita

Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.

Clinical and echocardiographic measures governing thromboembolism destination in atrial fibrillation

Although infrequent, embolic occlusion to non-cerebral arteries may result in limb loss, organ failure, and death. The aim of this study was to define clinical and echocardiographic characteristics determining thromboembolism destination in non-valvular atrial fibrillation. An inception cohort of individuals (n=72) were identified with incident peripheral embolism in the setting of non-valvular atrial fibrillation (1995-2005). A randomly selected group of atrial fibrillation related stroke patients (n=100) were identified for comparison. Arteries of the extremities were the most common site of embolism (85%); lower extremity involvement was twice as common compared with the upper extremity. Clinical features distinguishing peripheral embolism from stroke included age>75, heart failure and hypertension. Severe left ventricular dysfunction, spontaneous echo contrast and left atrial thrombus were 2-3 fold more common in peripheral embolism patients. Mean CHADS-2 scores were low and comparable for both groups. By multivariate analysis, age>5 years (hazard ratio [HR] 2.3, 95% confidence interval [CI] 1.3-3.9; p=0.05) was predictive of peripheral embolism. After adjustment for age>75 years, severe left atrial enlargement (HR 1.8, 95% CI 0.99-3.1; p=0.055) and CHADS score (HR 1.2, 95% CI 0.99-1.6; p=0.06) were of borderline significance. In conclusion, several clinical and echocardiographic measures distinguish the clinical presentation of thromboembolism in non-valvular atrial fibrillation. Small emboli are destined to lodge in the cerebral circulation as a result of hydrodynamic, anatomic, and physical factors. Advanced age, atrial enlargement and other co-morbidities may increase the propensity for the formation of larger thrombi which may bypass the carotid orifice merely as a function of size.