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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

PURPOSE: To determine the anatomic variations that can lead to optic nerve damage during the sugical treatment of posterior paranasal sinus lesions MATERIALS AND METHODS: two hundred optic nerves of 100 persons were examined using ostiomeatal unit CT (OMU CT). The anatomical features of this nerve and posterior paranasal sinuses were classified into four types : the optic nerve adjacent to the sphenoid sinus without indentation of the sinus wall (type 1); the optic nerve adjacent to the sphenoid sinus, causing indentation of the sinus wall (type 2); the optic nerve passing through the sphenoid sinus (type 3); and the optic nerve adjacent to the sphenoid sinus and posterior ethmoid sinus (type 4). Bony dehiscence around the optic nerve and pneumatization of the anterior clinoid process were also evaluated. RESULTS: The anatomical classification of the optic nerve and posterior paranasal sinuses was as follows : type 1, 1326 (66%); type 2, 60 (30%); type 3, 6 (3%), and type 4, 2 (1%). Bony dehiscence around the optic nerve had developed in 58 cases (29%) and pneumatization of the anterior clinoid process in 13 (6.5%). These conditions were most common in type 3 optic nerve, and second most common in type 2. CONCLUSION: The 2 and 3 optic nerve, bony dehiscence around the optic nerve and pneumatization of the anterior clinoid process are the anatomic variations that can lead to optic nerve damage during the surgical treatment of posterior paranasal sinus lesions. To prevent optic nerve damage, these factors should be carefully evaluated by OMU CT.
Classification ; Ethmoid Sinus ; Humans ; Optic Nerve* ; Paranasal Sinuses* ; Sphenoid Sinus

BACKGROUND: We report on our experience with using a distally based island flap for soft tissue reconstruction of the foot in limb salvage surgery for malignant melanoma patients. METHODS: A distally based sural flap was used for 10 cases for the hindfoot reconstruction, and a lateral supramalleolar flap was used for 3 cases for the lateral arch reconstruction of the mid- and forefoot after wide excision of malignant melanomas. RESULTS: The length of the flap varied from 7.5 cm to 12 cm (mean, 9.6 cm) and the width varied from 6.5 cm to 12 cm (mean, 8.8 cm). Superficial necrosis developed in four flaps, but this was successfully treated by debridement and suture or a skin graft. All thirteen flaps survived completely and they provided good contour, stable and durable coverage for normal weight bearing. CONCLUSIONS: The distally based sural flap is considered to be useful for reconstructing the hindfoot, and the lateral supramalleolar flap is good for reconstructing the lateral archs of the mid- and forefoot after resection of malignant melanoma of the foot.
Adult ; Aged ; Female ; Foot/*surgery ; Foot Diseases/*surgery ; *Free Tissue Flaps ; Humans ; Limb Salvage ; Male ; Melanoma/*surgery ; Middle Aged ; Reconstructive Surgical Procedures/methods ; Skin Neoplasms/*surgery

BACKGROUND: Injectable calcium sulfate is a clinically proven osteoconductive biomaterial, and it is an injectable, resorbable and semi-structural bone graft material. The purpose of this study was to validate the clinical outcomes of injectable calcium sulfate (ICS) grafts as compared with those of a demineralized bone matrix (DBM)-based graft for filling in contained bony defects created by tumor surgery. METHODS: Fifty-six patients (41 males and 15 females) with various bone tumors and who were surgically treated between September 2003 and October 2007 were included for this study. The patients were randomly allocated into two groups, and either an ICS graft (28 patients) or a DBM-based graft (28 patients) was implanted into each contained defect that was developed by the surgery. The radiographic outcomes were compared between the two groups and various clinical factors were included for the statistical analysis. RESULTS: When one case with early postoperative pathologic fracture in the DBM group was excluded, the overall success rates of the ICS and DBM grafting were 85.7% (24/28) and 88.9% (24/27) (p > 0.05), respectively. The average time to complete healing was 17.3 weeks in the ICS group and 14.9 weeks in the DBM group (p > 0.05). Additionally, the ICS was completely resorbed within 3 months, except for one case. CONCLUSIONS: Although the rate of resorption of ICS is a concern, the injectable calcium sulfate appears to be a comparable bone graft substitute for a DBM-based graft, with a lower cost, for the treatment of the bone defects created during surgery for various bone tumors.
Absorbable Implants ; Adolescent ; Adult ; Biocompatible Materials/*administration & dosage ; Bone Demineralization Technique ; Bone Matrix/*transplantation ; Bone Neoplasms/radiography/surgery/*therapy ; Bone Substitutes/*administration & dosage ; Calcium Sulfate/*administration & dosage ; Child ; Child, Preschool ; Curettage ; Female ; Humans ; Infant ; Injections ; Male ; Middle Aged ; Wound Healing ; Young Adult