Vertebral arteriovenous fistula (VAVF) is a rare lesion characterized by an abnormal connection between the extracranial vertebral artery and the surrounding venous plexus. It typically arises due to penetrating injury, although it can occasionally result from blunt trauma. Brachial plexus injury (BPI) is also infrequently associated with VAVF. We present a rare case of VAVF caused by blunt trauma, which resulted in BPI. The patient, who had previously sustained a C2 fracture and C2–3 myelopathy from a bicycle accident, presented with new-onset weakness in the right upper extremity. His previous clinical history led to an initial suspicion of either an exacerbation of a pre-existing lesion or a shoulder injury. However, electromyography indicated that the weakness was due to BPI. Further evaluations later revealed VAVF to be the primary cause of the BPI. VAVF must be recognized as a rare potential reason for BPI, as timely intervention is essential for improving patient recovery and prognosis.

Objective: To analyze the changes in muscle mass and quality with time on the paretic and non-paretic sides in subacute stroke patients and identify correlations between the variation of muscle mass and quality and lower limb functions. Methods: Thirty hemiplegia patients diagnosed with stroke participated in this study. To evaluate poststroke muscle changes, longitudinal measurement of muscle mass and quality was conducted with bilateral lower limbs. The elastic shear modulus was measured using shear wave elastography and muscle thickness (MT) of rectus femoris, vastus intermedius, vastus lateralis (VL), vastus medialis, tibialis anterior, and gastrocnemius (GCM) muscles. Functional evaluation was performed using Berg Balance Scale (BBS), Five Times Sit to Stand Test (FTSST). Follow-up was performed at discharge. The muscle mass and quality were compared according to time. We analyzed whether muscle quantity and quality were related to function. Results: MT demonstrated no significant change with time. The elastic shear modulus increased significantly in the paretic VL and GCM muscles and did not change significantly in the muscles on the non-paretic side. Correlation analysis detected that elastic shear modulus in the VL has a cross-sectional negative relationship between BBS and positive relationship between FTSST. There were significant correlation between variation of FTSST and the variation of the elastic shear modulus in VL. Conclusion Only paretic VL and GCM muscle quality changed in subacute stroke patients and muscle’s property related to lower limb functions. Therefore, the lower extremity requires an approach to muscle quality rather than quantity for subacute stroke patients.

Kennedy’s disease (KD) or bulbospinal muscular atrophy is an uncommon x-linked recessive genetic disorder. Its diagnosis is challenging due to its wide array of clinical manifestations and difficulty distinguishing it from other motor neuron diseases.Thus, diagnosis is confirmed through DNA testing. 52-year-old male patient presented to the hospital with chronic low back pain (LBP) and muscle weakness. The patient had mild weakness in some proximal muscles, increased deep tendon reflex.Lumbar spine magnetic resonance imaging (MRI) showed degenerative changes. Motor nerve conduction test results showed close to the normal. Sensory nerve conduction test results showed decreased latency and amplitude in most nerves. Needle electromyography revealed fasciculation potentials, diffuse fibrillation potentials, and positive sharp waves were detected. Thus, molecular genetic testing was performed. Consequently, KD was diagnosed. These results suggest the importance of detailed history taking and neurological examination even for patients with chronic LBP to rule out severe diseases.

Background: Mutations in mitochondrial DNA (mtDNA) are associated with several genetic disorders, including sensorineural hearing loss. However, the prevalence of mtDNA mutations in a large cohort of Korean patients with hearing loss has not yet been investigated. Thus, this study aimed to investigate the frequency of mtDNA mutations in a cohort of with pre- or post-lingual hearing loss of varying severity. Methods: A total of 711 Korean families involving 1,099 individuals were evaluated. Six mitochondrial variants associated with deafness (MTRNR1 m.1555A>G, MTTL1 m.3243A>G, MTCO1 m.7444G>A and m.7445A>G, and MTTS1 m.7471dupC and m.7511T>C) were screened using restriction fragment length polymorphism. The prevalence of the six variants was also analyzed in a large control dataset using whole-genome sequencing data from 4,534 Korean individuals with unknown hearing phenotype. Results: Overall, 12 of the 711 (1.7%) patients with hearing loss had mtDNA variants, with 10 patients from independent families positive for the MTRNR1 m.1555A>G mutation and 2 patients positive for the MTCO1 m.7444G>A mutation. The clinical characteristics of patients with the mtDNA variants were characterized by post-lingual progressive hearing loss due to the m.1555A>G variant (9 of 472; 1.9%). In addition, 18/4,534 (0.4%) of the Korean population have mitochondrial variants associated with hearing loss, predominantly the m.1555A>G variant. Conclusion A significant proportion of Korean patients with hearing loss is affected by the mtDNA variants, with the m.1555A>G variant being the most prevalent. These results clarify the genetic basis of hearing loss in the Korean population and emphasize the need for genetic testing for mtDNA variants.

Background: The purpose of the study was to translate and linguistically validate a Korean language version of the PROMIS (K-PROMIS) for the six profile adult domains: Fatigue, Pain Intensity, Pain Interference, Physical Function, Sleep Disturbance, and Ability to Participate in Social Roles and Activities. Methods: A total of 268 items were translated into Korean according to the Functional Assessment of Chronic Illness Therapy multilingual translation methodology. Participants first completed approximately 27 to 35 items and were then interviewed to evaluate the conceptual equivalence of the translation to the original English language source.The K-PROMIS items that met the a priori threshold of ≥ 20% of respondents with comprehension difficulties in the cognitive interview. Results: 54 of the 268 items were identified as difficult items to comprehend for at least 20% of respondents in Round 1. The most frequently identified K-PROMIS domain on difficult items to comprehend was the Physical function (24.5%). Most items with linguistic difficulties were Fatigue and Physical function. Cultural difficulties were only included the Physical function and Ability to Participate in Social Roles and Activities domains. 25 of 54 items were slightly revised, and then these revised items were tested with additional six participants in Round 2, and most participants had no problems to understand modified items. Conclusion The six profile adult domains of K-PROMIS have been linguistically validated.Further psychometric validation of the K-PROMIS items will provide additional information of meaningful outcomes for chronic disease and clinical setting.

Background: The purpose of the study was to translate and linguistically validate a Korean language version of the PROMIS (K-PROMIS) for the six profile adult domains: Fatigue, Pain Intensity, Pain Interference, Physical Function, Sleep Disturbance, and Ability to Participate in Social Roles and Activities. Methods: A total of 268 items were translated into Korean according to the Functional Assessment of Chronic Illness Therapy multilingual translation methodology. Participants first completed approximately 27 to 35 items and were then interviewed to evaluate the conceptual equivalence of the translation to the original English language source.The K-PROMIS items that met the a priori threshold of ≥ 20% of respondents with comprehension difficulties in the cognitive interview. Results: 54 of the 268 items were identified as difficult items to comprehend for at least 20% of respondents in Round 1. The most frequently identified K-PROMIS domain on difficult items to comprehend was the Physical function (24.5%). Most items with linguistic difficulties were Fatigue and Physical function. Cultural difficulties were only included the Physical function and Ability to Participate in Social Roles and Activities domains. 25 of 54 items were slightly revised, and then these revised items were tested with additional six participants in Round 2, and most participants had no problems to understand modified items. Conclusion The six profile adult domains of K-PROMIS have been linguistically validated.Further psychometric validation of the K-PROMIS items will provide additional information of meaningful outcomes for chronic disease and clinical setting.

Background: Regeneration of soft tissue defects is essential for adipose tissue pathologies and disease, trauma, or injury-induced damage. Here, we show that umbilical cord blood-derived mesenchymal stem cells could potentially be tailored and used for the reconstruction of specific damaged sites. Adipogenesis can be exploited in soft tissue reconstruction. Also, primary cilia play a role in the control of adipogenesis. Methods: The adipogenic differentiation capacity of mesenchymal stem cells (MSCs) was shown to influence ciliogenesis. MSCs transfected with intraflagellar transport 88 (IFT88) small interfering RNA (siRNA), which blocks the assembly and maintenance of cilia, were examined to confirm the relationship between adipogenesis and ciliogenesis. Also, 1,2-Bis(2-aminophenoxy) ethane-N,N,N′,N′-tetraacetic acid tetrakis(acetoxymethyl ester) (BAPTA-AM), calcium chelator, inhibited the ciliogenesis of MSCs in adipogenic differentiation. Results: IFT88-knockdown led to decreased cilia formation and limitation of cilia elongation in adipogenesis. Additionally, intracellular calcium triggered cilia formation in MSCs adipogenesis. Interestingly, intracellular calcium cannot overcome the inhibition of adipogenesis caused by low numbers of cilia in MSCs. Conclusion Our data suggested that ciliogenesis was negatively regulated by Wnt5a/β-catenin signaling during adipogenesis. Thus, we suggest that calcium induction triggers adipogenesis and ciliogenesis.

OBJECTIVE: Paraclinoid aneurysms are a group of aneurysms arising at the distal internal carotid artery. Due to a high incidence of small, wide-necked aneurysms in this zone, it is often challenging to achieve complete occlusion when solely using detachable coils, thus stent placement is often required. In the present study, we aimed to investigate the effect of stent placement in endovascular treatment of paraclinoid aneurysms. METHODS: Data of 98 paraclinoid aneurysms treated by endovascular approach in our center from August 2005 to June 2016 were retrospectively reviewed. They were divided into two groups: simple coiling and stent-assisted coiling. Differences in the recurrence and progressive occlusion between the two groups were mainly analyzed. The recurrence was defined as more than one grade worsening according to Raymond-Roy Classification or major recanalization that is large enough to permit retreatment in the follow-up study compared to the immediate post-operative results. RESULTS: Complete occlusion was achieved immediately after endovascular treatment in eight out of 37 patients (21.6%) in the stent-assisted group and 18 out of 61 (29.5%) in the simple coiling group. In the follow-up imaging studies, the recurrence rate was lower in the stent-assisted group (one out of 37, 2.7%) compared to the simple coiling group (13 out of 61, 21.3%) (p=0.011). Multivariate logistic regression model showed lower recurrence rate in the stent-assisted group than the simple coiling group (odds ratio [OR] 0.051, 95% confidence interval [CI] 0.005–0.527). Furthermore there was also a significant difference in the rate of progressive occlusion between the stent-assisted group (16 out of 29 patients, 55.2%) and the simple coiling group (10 out of 43 patients, 23.3%) (p=0.006). The stent-assisted group also exhibited a higher rate of progressive occlusion than the simple coiling group in the multivariate logistic regression model (OR 3.208, 95% CI 1.106–9.302). CONCLUSION: Use of stents results in good prognosis not only by reducing the recurrence rate but also by increasing the rate of progressive occlusion in wide-necked paraclinoid aneurysms. Stent-assisted coil embolization can be an important treatment strategy for paraclinoid aneurysms when considering the superiority of long term outcome.
Aneurysm* ; Carotid Artery, Internal ; Classification ; Embolization, Therapeutic ; Follow-Up Studies ; Humans ; Incidence ; Intracranial Aneurysm ; Logistic Models ; Prognosis ; Recurrence ; Retreatment ; Retrospective Studies ; Stents

OBJECTIVES: Patients with obstructive sleep apnea syndrome (OSAS) have impaired responses to inspiratory resistive loading during sleep. This may be due, in part, to a change in the upper airway sensation. Therefore, we hypothesized that patients with OSAS have diminished upper airway sensation due to snoring. METHODS: A total of 53 participants were selected based on clinical evaluation and polysomnography. Two-point discrimination was measured with modified calipers in the tongue and soft palate. RESULTS: A total of 10 participants were included in the control group, 12 participants in the simple snoring group, and 27 participants in the OSAS group. There were 12 patients in the impaired sensation group of the OSAS group. On comparing polysomnography, patients with impairment of their palatal sensory input in two-point discrimination (TPD) had a more protracted duration of the longest snoring episode than those with simple snoring and normal sensation. Patients with decreased sensory input in TPD had longer average duration of snoring episodes and relative snoring time than those with simple snoring and normal sensory input in cold uvular TPD. Comparison of the cold uvular TPD for normal sensation and impaired sensation in patients with OSAS after treatment showed a different trend. CONCLUSION: Impaired sensation of the soft palate was correlated with the longest snoring episode duration, average snoring episode duration, and relative snoring time. It is helpful in detecting the early stage of neural degradation in OSAS patients by assessing snoring components of polysomnography and TPD in the soft palate.
Discrimination (Psychology)* ; Humans ; Hypesthesia ; Palate, Soft ; Polysomnography ; Sensation* ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive* ; Snoring ; Tongue

Sorafenib is a multi-targeted tyrosine kinase inhibitor that inhibits Raf kinase and the vascular endothelial growth factor receptor intracellular kinase pathway and is the first agent to demonstrate a statistically significant improvement in overall survival for patients with advanced hepatocellular carcinoma (HCC). However, there were few cases of partial or complete response reported in the previous studies. We herein report a case of dramatic partial response in a patient who had advanced HCC with multiple lung metastasis and portal vein thrombosis treated with sorafenib.
Carcinoma, Hepatocellular* ; Drug Therapy ; Humans ; Lung* ; Neoplasm Metastasis* ; Phosphotransferases ; Protein-Tyrosine Kinases ; Receptors, Vascular Endothelial Growth Factor ; Treatment Outcome ; Venous Thrombosis