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We analyzed the mRNA expression patterns of major potassium channel genes to determine the mechanism of hypokalemia in familial hypokalemic periodic paralysis. We used quantitative RT-PCR to examine the mRNA levels of both inward (KCNJ2, KCNJ6, and KCNJ14) and delayed rectifi er (KCNQ1 and KCNA2) potassium channel genes in skeletal muscle cells from both normal and patient groups, prior to and after exposure to 4 mM and 50 mM potassium buffers. Quantitative RT-PCR analysis revealed no changes in the mRNA levels of these genes in normal and patient cells on exposure to 4 mM potassium buffer. However, after exposure to 50 mM potassium buffer, which was used to induce depolarization, normal cells showed a signifi cant decrease in KCNJ2, KCNJ6, and KCNJ14 expression, but no change in KCNQ1 and KCNA2 expression. In contrast, patient cells showed no change in KCNJ2 and KCNJ6 expression, but an increase in KCNJ14 expression. Furthermore, KCNQ1 and KCNA2 showed decreased expression. We found that the expression levels of both inward and delayed rectifi er potassium channel genes in patient cells differ from those in normal cells. Altered potassium channel gene expression in patient cells may suggest a possible mechanism for hypokalemia in familial hypokalemic periodic paralysis.

Limb salvage should be considered after complete remission in young and physically active patients with osteosarcoma. Herein we described a patient who was treated with whole knee allograft reconstruction for the clinical implications of biological reconstruction which can avoid the problems with several consecutive sessions of mega-prosthesis revision. The mid-term result of this whole knee joint allograft reconstruction showed that it provided optimal joint congruence with durable joint stability, well balanced mechanical axis without joint space narrowing, and satisfactory gait pattern.
Allografts* ; Axis, Cervical Vertebra ; Gait ; Humans ; Joints ; Knee ; Knee Joint* ; Limb Salvage* ; Osteosarcoma*

Alternative splicing (AS) is an important mechanism of producing transcriptome diversity and microarray techniques are being used increasingly to monitor the splice variants. There exist three types of microarrays interrogating AS events-junction, exon, and tiling arrays. Junction probes have the advantage of monitoring the splice site directly. Johnson et al., performed a genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays (Science 302:2141-2144, 2003), which monitored splicing at every known exon-exon junctions for more than 10,000 multi-exon human genes in 52 tissues and cell lines. Here, we describe an algorithm to deduce the relative concentration of isoforms from the junction array data. Non-negative Matrix Factorization (NMF) is applied to obtain the transcript structure inferred from the expression data. Then we choose the transcript models consistent with the ECgene model of alternative splicing which is based on mRNA and EST alignment. The probe-transcript matrix is constructed using the NMF-consistent ECgene transcripts, and the isoform abundance is deduced from the non-negative least squares (NNLS) fitting of experimental data. Our method can be easily extended to other types of microarrays with exon or junction probes.
Alternative Splicing ; Cell Line ; Exons* ; Humans ; Least-Squares Analysis ; Protein Isoforms ; RNA Precursors ; RNA, Messenger ; Transcriptome

Background: A minimally invasive procedure for symptomatic pelvic bone metastasis is a feasible option for advanced cancer patients, and bone cement injection plays an essential role. Pulmonary embolism caused by thrombus, fat, or tumor emboli is a major complication related to bone cement injection, and increasing intraosseous pressure is a predisposing factor. This study aimed to quantify the degree of pressure change in the pelvic bone during percutaneous bone cement injection and investigate whether there is a significant decrease in intraosseous pressure when a decompressive route is additionally established. Methods: Bone cement injection into the acetabulum of swine pelvises by simulating the actual surgical procedure in terms of the injection method, bone cement, and surgical instruments was performed while recording the intraosseous pressure. Twenty swine pelvises were used and grouped into a decompression group and a non-decompression group. Bone cement injection and pressure measurement were conducted in the same way in both groups, but an additional decompressive route was established for each pelvis in the decompression group. Continuous variables were compared using the Mann-Whitney test. Results: The mean amount of injected bone cement was 19.8 mL and 20.3 mL and the mean speed of bone cement injection was 0.14 mL/sec and 0.12 mL/sec in the decompression group and the non-decompression group, respectively. The mean peak intraosseous pressures was 10.5 kPa with decompression and 37.8 kPa without decompression, and the difference was statistically significant (p < 0.01). Conclusions Intraosseous pressure during bone cement injection into swine pelvises was similar to that during vertebroplasty or kyphoplasty. When the additional decompression route was established, the intraosseous pressure decreased to one third the level.

Purpose: Bladder capacity is an important parameter in the diagnosis of lower urinary tract dysfunction. We aimed to determine whether the maximum bladder capacity (MCC) measured during a urodynamic study was affected by involuntary detrusor contraction (IDC) in patients with Lower Urinary Tract Symptoms (LUTS)/Benign Prostatic Hyperplasia (BPH). Methods: Between March 2020 and April 2021, we obtained maximum voided volume (MVV) from a 3-day frequency-volume chart, MCC during filling cystometry, and maximum anesthetic bladder capacity (MABC) during holmium laser enucleation of the prostate under spinal or general anesthesia in 139 men with LUTS/BPH aged >50 years. Patients were divided according to the presence of IDC during filling cystometry. We assumed that the MABC is close to the true value of the MCC, as it is measured under the condition of minimizing neural influence over the bladder. Results: There was no difference in demographic and clinical characteristics between the non-IDC (n=20) and IDC groups (n=119) (mean age, 71.5±7.4) (P>0.05). The non-IDC group had greater bladder volume to feel the first sensation, first desire, and strong desire than the IDC group (P<0.001). In all patients, MABC and MVV were correlated (r=0.41, P<0.001); however, there was no correlation between MCC and MABC (r=0.19, P=0.02). There was no significant difference in MABC between the non-IDC and IDC groups (P=0.19), but MVV and MCC were significantly greater in the non-IDC group (P<0.001). There was no significant difference between MABC and MVV (MABC-MVV, P=0.54; MVV/MABC, P=0.07), but there was a significant difference between MABC and MCC between the non-IDC and IDC groups (MABC-MCC, P<0.001; MCC/MABC, P<0.001). Conclusions Maximum bladder capacity from a urodynamic study does not represent true bladder capacity because of involuntary contractions.

PURPOSE: This study evaluated the feasibility and efficacy of a percutaneous injection of a mixture of autogenous bone marrow and crushed cancellous bone allografts for the treatment of simple bone cysts. MATERIALS AND METHODS: Fifteen patients with a simple bone cyst were enrolled in this study. The mean age was 13.5 years (range, 4-32 years), and the mean follow-up period was 13.2 months (range, 8-19 months). The radiographic signs of the resolution of the cyst were categorized as healed, healed with a defect, persistent and recurrent. The groups of healed and healed with a defect were designated the positive response groups. RESULTS: Fourteen patients responded to the treatment. Nine patients showed complete healing that was first seen radiographically at 3 months (range, 1-6 months). Five patients showed healing with a defect, but no patient required a second injection because the cysts were small and did not cause functional pain. There was no correlation between clinical responses and age, gender, location, cyst index and previous treatment modalities. One patient had a pathological fracture, which was treated successfully by open bone grafting with flexible intramedullary nailing. CONCLUSION: A percutaneous injection of a mixture of autogenous bone marrow and a crushed cancellous bone allograft may be an effective treatment for simple bone cysts.
Allografts* ; Bone Cysts* ; Bone Marrow* ; Bone Transplantation ; Follow-Up Studies ; Fracture Fixation, Intramedullary ; Fractures, Spontaneous ; Humans

BACKGROUND: Rotational atherectomy has been shown to be safe and efficient for the treatment of ISR, but the recurrence rate is still high. Intracoronary-irradiation after rotational atherectomy may be a reasonable approach to prevent recurrent ISR. SUBJECTS & METHODS: Fifty consecutive patients with diffuse ISR (length > 10 mm) in native coronary arteries underwent rotational atherectomy and adjunctive balloon angioplasty followed by beta irradiation using a 188Re-MAG3-filled balloon catheter. The radiation dose was 15 Gy at 1.0 mm deep into vessel wall. RESULTS: Mean length of the lesion and irradiated segment was 25.6 +/- 12.7 mm and 37.6 +/- 11.2 mm, respectively. The radiation was delivered successfully to all patients, with a mean irradiation time of 201.8 61.7 seconds. No adverse event including myocardial infarction, death, or stent thrombosis occurred during the follow-up period (mean 10.3 +/- 3.7 months) and non-target vessel revascularization was needed in one patient. Six-month binary angiographic restenosis rate was 10.4 % and loss index was 0.17 +/- 0.31. CONCLUSIONS: beta irradiation using 188Re-MAG3-filled balloon following rotational atherectomy is safe and feasible for patients with diffuse ISR, and it may improve the clinical and angiographic outcomes. Further prospective randomized trials are warranted to evaluate the synergistic effect of debulking and irradiation in patients with diffuse ISR.
Angioplasty, Balloon ; Atherectomy, Coronary* ; Catheters ; Coronary Vessels ; Follow-Up Studies ; Humans ; Myocardial Infarction ; Recurrence ; Stents ; Thrombosis

The prevalence of metastatic tumorous lesion at medial clavicle or sternoclavicular joint is low. Herein, we presented a 45-year-old female patient with left sternoclavicular joint pain followed a weight-lifting exercise. The patient was initially diagnosed as traumatic sternoclavicular arthrosis, however, on later computed tomography scan demonstrated the bony destruction of medial clavicle which was diagnosed as metastasized non-small cell lung carcinoma after a fine needle biopsy.
Adenocarcinoma ; Biopsy, Fine-Needle ; Clavicle ; Female ; Humans ; Lung Neoplasms ; Lung* ; Middle Aged ; Neoplasm Metastasis ; Prevalence ; Sternoclavicular Joint*

We report a case of vegetation in a 4-year-old female with infective endocarditis, diagnosed by late gadolinium-enhanced (LGE) cardiovascular magnetic resonance (CMR) imaging. The patient had a history of primary closure for ventricular septal defect and presented with mild febrile sensation. No remarkable clinical symptoms or laboratory findings were noted; however, transthoracic echocardiography demonstrated a 14 mm highly mobile homogeneous mass in the right ventricle. On LGE CMR imaging, the mass showed marginal rim enhancement, which suggested the diagnosis of vegetation rather than thrombus. The extracellular volume fraction (≥ 42%) of the lesion was higher than that of normal myocardium. Based on the patient's clinical history of congenital heart disease and pathologic confirmation of the lesion, a diagnosis of infective endocarditis with vegetation was made.
Child, Preschool ; Diagnosis* ; Echocardiography ; Endocarditis ; Female ; Heart Defects, Congenital ; Heart Septal Defects, Ventricular* ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging* ; Myocardium ; Sensation ; Thrombosis