BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Action Potentials ; Axons ; Charcot-Marie-Tooth Disease ; Cohort Studies ; Humans ; Muscles ; Neural Conduction

The publisher wishes to apologize for incorrectly displaying the author (Seok Beom Gwon) name. We correct his name from Seok Beom Gwon to Seok Beom Kwon.

The hyperosmotic stimulus is regarded as a mechanical factor for bone remodeling. However, whether the hyperosmotic stimulus affects 1alpha, 25-dihydroxyvitamin D3 (1alpha,25(OH)2D3)-induced osteoclastogenesis is not clear. In the present study, the effect of the hyperosmotic stimulus on 1alpha,25(OH)2D3-induced osteoclastogenesis was investigated in an osteoblast-preosteoclast co-culture system. Serial doses of sucrose were applied as a mechanical force. These hyperosmotic stimuli significantly evoked a reduced number of 1alpha,25(OH)2D3-induced tartrate-resistant acid phosphatase-positive multinucleated cells and 1alpha,25(OH)2D3-induced bone-resorbing pit area in a co-culture system. In osteoblastic cells, receptor activator of nuclear factor kappaB ligand (RANKL) and Runx2 expressions were down-regulated in response to 1alpha,25(OH)2D3. Knockdown of Runx2 inhibited 1alpha,25(OH)2D3-induced RANKL expression in osteoblastic cells. Finally, the hyperosmotic stimulus induced the overexpression of TonEBP in osteoblastic cells. These results suggest that hyperosmolarity leads to the down-regulation of 1alpha,25(OH)2D3-induced osteoclastogenesis, suppressing Runx2 and RANKL expression due to the TonEBP overexpression in osteoblastic cells.
Bone Remodeling ; Coculture Techniques ; Down-Regulation ; Osteoblasts ; RANK Ligand ; Sucrose

The purpose of this study was to investigate the effect of manganese (Mn) supplementation on bone status and calcium balance in ovariectomized rats according to the calcium intake levels. Total of 50 Sprague Dawley female rats (6 weeks) were divided into 5 groups and bred for 12 weeks: sham operated control group (SACa), OVX Ca deficiency group (OLCa) with Ca deficiency diet (0.1% Ca modified AIN-93N diet), OVX Ca deficiency & Mn supplement group (OLCaMn), OVX adequate Ca group (OACa; 0.5% Ca AIN-93N diet) and OVX adequate Ca & Mn supplement group (OACaMn). BMD (bone mineral density) of the femur was increased by Mn supplementation in OVX adequate Ca group. However, BMDs of spine, femur and tibia were lowered in OLCa compared to the OLCaMn group. Bone strength of tibia in OLCaMn group was significantly lower than OLCa group. Serum ALP (alkaline phosphatase) and CTx (C-telopeptide of collagen cross-links) levels were significantly higher in ovariectomized rats than those in the sham group, but they were not changed by Mn supplementation. Ca retention rate and Ca absorption rate did not differ among the experimental groups. Urinary Ca excretion was increased by Mn supplementation in Ca deficiency rats. In summary, Mn supplementation resulted in positive effects on bone mineral density ovariectomized rats with which intake adequate Ca. However, Mn supplementation on Ca deficiency ovariectomized rats resulted in decrement of BMD and bone strength by increasing Ca excretion. Therefore, it is encouraged to consider calcium intake levels in supplementation of manganese in order to prevent postmenopausal osteoporosis and to keep bone healthy.
Absorption ; Animals ; Bone Density ; Calcium ; Collagen ; Diet ; Female ; Femur ; Humans ; Manganese ; Osteoporosis, Postmenopausal ; Ovariectomy ; Rats ; Retention (Psychology) ; Salicylamides ; Spine ; Tibia

Henoch-Schoenlein purpura is predominantly a childhood disease with good prognosis. It is characterized by nonthrombocytopenic purpura, arthritis, arthralgia, gastrointestinal symptoms and glomerulonephritis. Abdominal pain is the most common gastrointestinal symptom, however, some patient with Henoch-Schoenlein purpura have gastrointestinal major surgical complication such as intussusception, bowel infarction, necrosis, stricture and perforation. We report a case of duodenal perforation in a 6-year-old boy with Henoch-Schoenlein purpura, being treated with corticosteroids.
Abdominal Pain ; Adrenal Cortex Hormones ; Arthralgia ; Arthritis ; Child* ; Constriction, Pathologic ; Glomerulonephritis ; Humans ; Infarction ; Intussusception ; Male ; Necrosis ; Prognosis ; Purpura* ; Purpura, Schoenlein-Henoch

BACKGROUND AND OBJECTIVES: Aortic stiffness is believed to be an important risk factor of coronary artery atherosclerosis (CAA), as it directly affects coronary perfusion. The following aspects of the invasively measured aortic pulse wave velocity (PWV) were assessed in relation to CAA: The effect of cardiovascular risk factors on PWV, the effect of PWV on the severity of CAA and on the development of the restenosis after drug-eluting stent (DES) implantation. SUBJECTS AND METHODS: 371 subjects who had undergone coronary angiography were enrolled, with all undergoing an invasive aortic PWV measurement also. 112 patients, who had undergone a DES implantation, were prospectively investigated for the effect of PWV in relation to the subsequent risk of major adverse cardiac events (MACE). RESULTS: Among the conventional cardiovascular risk factors, an age >60 (10.79+/-4.92 vs. 8.35+/-4.02, p=0.0006), diabetes (10.97+/-4.66 vs. 9.26+/-4.70 m/sec, p=0.0118) and dyslipidemia (10.38+/-4.97 vs. 9.47+/-4.55m/sec, p=0.0421) were significantly associated with an increased PWV, but sex, smoking and hypertension were not associated with an increased PWV. The PWV was shown to be significantly associated with the severity of CAD. The odds ratio (OR) of 1m/sec increment in the PWV for an increased vessel score was 1.08 (95% confidence interval (CI): 1.03-1.13, p=0.0017). There were no differences in the incidence of MACE and the changes in the angiographic parameters between the high (>10 m/sec) and low PWV groups. CONCLUSION: The invasively measured aortic PWV was affected by age (>60), diabetes and dyslipidemia, and also showed a strong association with the severity of CAD. The aortic PWV was not a significant risk factor for restenosis following a DES implantation.
Atherosclerosis ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Restenosis ; Coronary Vessels* ; Drug-Eluting Stents ; Dyslipidemias ; Humans ; Hypertension ; Incidence ; Odds Ratio ; Perfusion ; Prospective Studies ; Pulse Wave Analysis ; Risk Factors ; Smoke ; Smoking ; Vascular Stiffness*

A gastrocolic fistula is a fistulous communication between a segment of colon and the stomach. It is a rare complication and is caused most commonly by a carcinoma of the colon or the stomach. Among the less common causes of a gastrocolic fistula are a benign gastric ulcer, chronic ulcerative colitis, Crohn's disease, a carcinoid tumor, syphillis, an intraabdominal abscess, a lymphoma, trauma, intestinal tuberculosis, and iatrogenic factors. Recently, the incidence of gastrocolic fistulas has decreased due to earlier diagnosis and treatment of stomach and colon cancer. The classic triad of symptoms are lienteric diarrhea, feculent vomiting, and foul eructations, but all patients do not necessarily present with these symptoms. A gastrocolic fistula is usually diagnosed by using a barium enema, but occasionally can be detected by using an upper gastrointestinal series or endoscopy. Here, we report experience with a fistula between a cancerous transverse colon and the stomach and give a review of the literature.
Abscess ; Barium ; Carcinoid Tumor ; Colitis, Ulcerative ; Colon* ; Colon, Transverse ; Colonic Neoplasms* ; Crohn Disease ; Diagnosis ; Diarrhea ; Endoscopy ; Enema ; Eructation ; Fistula* ; Humans ; Incidence ; Lymphoma ; Stomach ; Stomach Ulcer ; Tuberculosis ; Vomiting

PURPOSE: To determine the efficacy and safety of endoscopic resection and ablation of superficial varicose vein using a powered vein resector and irrigated illuminator. METHODS: Forty-three limbs in 29 patients were involved in our hospital study. The clinical records between August 2002 and February 2004 were reviewed. All patients were treated with a minimally invasive, powered vein resecting device, using cutaneous transillumination and tumescent fluid under general or spinal anesthesia. RESULTS: The 29 varicose vein patients were composed, (19 men (65.5%) and 10 women (34.5%), with a mean age of 56.9 years. The most common symptom or sign of varicose vein was an unsightly vein (15 patients, 51.7%). Fifteen unilateral (5: right, 10: left) and 14 bilateral operation for varicose veins were performed. The mean operative time, number of skin incisions and length of hospital stay were 34.2 minutes, (ranging from 26 to 58, 3.2 sites, (ranging form 2 to 6) and 3.3 days, (ranging from 2 to 6). Postoperative complications occurred in 12 limbs (27.9%), including skin perforation (1 limb, 2.3%), wound abscess (1 limb, 2.3%), cellulitis (1 limb, 2.3%), lower limb pain (4 limbs, 9.3%), edema (2 limbs, 4.7%), hematoma (1 limb, 2.3%), remaining varicose vein (1 limb, 2.3%) and paresthesia (1 limb, 2.3%). CONCLUSION: This study showed that the TIPP (TriVexTM) technique for varicose vein removal was swift and efficacious. When performed by trained surgeons the complication rates of the technique were comparable with those of conventional surgery, with the advantages of a trend toward reduced operating times in extensive varicose vein, and significantly fewer incisions.
Abscess ; Anesthesia, Spinal ; Cellulitis ; Edema ; Extremities ; Female ; Hematoma ; Humans ; Length of Stay ; Lower Extremity* ; Male ; Operative Time ; Paresthesia ; Postoperative Complications ; Skin ; Transillumination ; Varicose Veins* ; Veins ; Wounds and Injuries

A stercoral perforation of the colon is a very rare condition, which results from stercoral ulcers due to severe, prolonged constipation, and has a very high mortality rate. Herein is presented four cases of stercoral perforation of the sigmoid colon. All the patients were female. They had long standing and severe constipation, with peritonitis, prior to admission. Plain chest or abdominal X-rays revealed the presence of abdominal free air in all cases, and so emergent operations were undertaken. Fecalomas were found in the colon or abdominal cavity, with round and spherical shaped perforated sites. Microscopically, the edges of the ulcers were compressed with the accumulation of lymphocytes. A resection of the perforated colon with a proximal colostomy was performed in one case, a primary closure of the perforated colon and a proximal colostomy in another and a Hartmann's colostomy in the remaining two cases.
Abdominal Cavity ; Colon* ; Colon, Sigmoid ; Colostomy ; Constipation ; Female ; Humans ; Lymphocytes ; Mortality ; Peritonitis ; Thorax ; Ulcer

Gastroduodenal intussusception is an extremely uncommon condition caused by the prolapse of a gastric tumor into the duodenum, with the subsequent invagination of a portion of the stomach wall. The lead point of the intussusception is usually a benign gastric tumor, with only a small number attributed to gastric carcinomas. Both gastroduodenal intussusception itself and a gastric carcinoma as the lead point are extremely rare. The authors present a case of gastroduodenal intussusception caused by a Borrmann type I gastric carcinoma. This case can be classified as a partial lateral invagination with a grade II internal mechanism.
Duodenum ; Intussusception* ; Prolapse ; Stomach