Trichorhinophalangeal syndiome, a rare genetic disease, is characterzed by the triad of slow growing, brittle hair with early loss, a pear-shaped nose with bulbous tip and long philtrum, and coneshaped phalangeal epiphyses wiith resultant shortening and. deformity of hands and feet. A 24-year-old female visited our department for the evaluation of lalopecia. She had had sparse, thin, and brittle hair since birth. She also complained of short fingers ar d a pear-shaped nose with bulbous tip. The X-ray findings of her hands and feet showed cone-shaped epiphyses with shortening of the phalangeal bones. There was no family history of hair, nasal, or palnkoplantar phalangeal abnormality. Chromosomal study did not reveel any abnormal finding. Shortened phalangeal bones of her index and middle fingers were slightly improved by lengthening procedure with iIlizarov apparatus.
Congenital Abnormalities ; Epiphyses ; Female ; Fingers ; Foot ; Hair ; Hand ; Humans ; Lip ; Nose ; Parturition ; Young Adult

OBJECTIVE: The use of oral hypoglycemic drugs in pregnant women has been limited and therefore there is scanty information on their safety. Concern about possible adverse effects of these drugs on the fetus led us to collect the cases of unintentional fetal exposure to oral antidiabetic agent during embryogenesis for comparision with an appropriately matched control group from the same clinic population. METHODS: Eight type 2 diabetic pregnant women with accidental exposure to oral antidiabetic agent during early pregnancy and 20 type 2 diabetic pregnant women matched for age, weight, and glycemic control but not exposed to oral antidiabetic agent were studied retrospectively. RESULTS: Three neonates (38%) in the exposed group had congenital malformations and still birth, compared with 5 (25%) in the control group (Odds ratio 1.8 (0.2-13.8), P>0.05). In the control group, the mean of HbA1c of 5 mothers of neonates with anomalies and stillbirth were higher than that of 15 mothers of neonates without anomaly (8.8% vs 6.2%, p=0.1) and the anomalies were major congenital malformation including three congenital heart diseases (1 ventricular septal defect, 2 patent ductus arteriosus) and one renal agenesis. In the exposed group, the mean of HbA1c of 3 mothers of neonates with anomalies and stillbirth were higher than that of 5 mothers of neonates without anomaly (9.0% vs 6.3%, p=0.4) and the anomlies were urachal sinus and facial palsy which was not commonly described in diabetic embryopathy. CONCLUSION: Although this study, due to the limited number of pregnancies examined, does not exclude an association between treatment with oral antidiabetic agent at the time of embryogenesis and congenital malformations in the offspring, the risk of our results is lower than that of others. The final answer will demand a much larger number of pregnancies studied prospectively.
Embryonic Development* ; Facial Paralysis ; Female ; Fetal Diseases ; Fetus* ; Heart Diseases ; Heart Septal Defects, Ventricular ; Humans ; Hypoglycemic Agents* ; Infant, Newborn ; Mothers ; Parturition ; Pregnancy ; Pregnant Women ; Retrospective Studies ; Stillbirth

PURPOSE: This study evaluated the effects of respiratory muscle training on respiratory function, balance, and activities of daily living (ADL) in patients with stroke. METHODS: The study included 21 patients with stroke, divided into the experimental group and control group. Both groups underwent traditional physical therapy once a day for 30 minutes, five times weekly for 6 weeks. The experimental group underwent additional respiratory muscle training once a day, five times a week during the study period. Maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), Berg balance scale (BBS), and Korean-modified Barthel index (K-MBI) were measured before and after the study period. For statistical analysis, paired t-test was used to compare the difference between the pre and post values. Independent t-test was used compare the differences between groups. RESULTS: Both groups had significantly improved MIP, MEP, BBS, and K-MBI scores after the study period. The experimental group had significantly improved MIP, MEP, BBS, and K-MBI scores. CONCLUSION: These results suggest that respiratory muscle training improves respiratory function, balance, and ADL in patients with stroke.
Activities of Daily Living* ; Breathing Exercises* ; Humans ; Respiratory Muscles* ; Stroke*

PURPOSE: This study aimed to identify the effects of a task-oriented exercise program on balance in patients with acute stroke. METHODS: Twenty participants with hemiparesis resulting from acute stroke volunteered to participate in this study. They were randomly assigned to either the experimental or control group, with 10 patients per group. Both groups underwent a task-oriented exercise program averaging 30 minutes daily for 4 weeks. Balance was assessed before and after the 4-week training period. Before and after the intervention, we conducted a paired t-test to compare the within-group changes and an independent t-test to compare the betweengroup differences. The statistical significance level was set at p=0.05 for all the variables. RESULTS: Both groups showed significant within-group and between-group changes in balance (p < 0.05) after the intervention. CONCLUSION: This study provides valuable information for future studies in this field. Further research using a larger sample and longer experiment spans can corroborate the results of our study.
Humans ; Paresis ; Stroke*

This study was conducted to evaluate the effectiveness of taping intervention in patients with stroke through a review analysis of taping interventions used to enhance physical function and activity in patients with stroke. We searched randomized controlled trials using electronic databases. We also manually reviewed sources to identify additional relevant studies. Taping intervention is an approach to treat individuals with impaired physical function and activity. Taping interventions affect body functions by providing increased muscle strength, proprioceptive sensation, and range of motion, as well as decreased rigidity and pain. Taping interventions also improve walking, balance and arm functions, such as physical activity. Taping intervention for patients with stroke has been shown to be highly effective and is therefore strongly recommended; however, it is suggested that it be further developed to improve its efficacy as an intervention method and to create additional taping methods.
Arm ; Humans ; Methods ; Motor Activity ; Muscle Strength ; Range of Motion, Articular ; Sensation ; Stroke* ; Walking

PURPOSE: This investigation aimed to determine the effects of treadmill training (TT) and high frequency chest wall oscillation (HFCWO) on pulmonary function and walking ability in stroke patients as well as propose an exercise program to improve cardiovascular function. METHODS: Twenty hemiplegic stroke patients were randomized to either the control group (CG) (n=10) or the experimental group (EG), which received TT and HFCWO (n=10). Pulmonary function was quantitated using patient forced vital capacity (FVC) and forced expiratory volume at one second (FEV1) while walking speed was assessed by the 10m walking test (10MWT). Further, walking endurance was determined utilizing the 6-minute walk test (6MWT). Subjects of the EG performed the study protocol for 60 minutes, five times a week for six weeks; CG patients did not participate in regular exercise. To determine significance for the differences observed before and after exercise, within-group and between-group comparisons were conducted utilizing paired and independent t-tests, respectively, with the level of significance set at α=0.05. RESULTS: Within-groups, significant differences were observed in both FVC and FEV1 (p<0.01) following completion of the study protocol. Further, between-group comparisons demonstrated significant differences in both FVC (p<0.05) and FEV1 (p<0.01). Post-exercise, significant changes in the 10MWT and 6MWT score were observed between the EG and CG (p<0.01). Further, statistically significant differences were observed in 6MWT scores between-groups (p<0.05). CONCLUSION: The TT and HFCWO effectively improved pulmonary function and walking ability in subjects with stroke. The proposed program can be applied to stroke patients as a useful therapy.
Chest Wall Oscillation* ; Forced Expiratory Volume ; Humans ; Stroke* ; Vital Capacity ; Walking*

PURPOSE: This study examined the effects of stretching and strengthening exercises on the pain, pelvic tilt (PT), functional disability, and balance of patients with chronic lower back pain (CLBP). METHODS: A total of 42 patients with CLBP were randomly divided randomly into either experimental group I (EG I, n=21), who received stretching exercise, or experimental group II (EG II, n=21), who received strengthening exercise. Both interventions were applied three times a week for eight weeks. Assessments were made with a visual analogue scale (VAS), PT, Oswestry disability index (ODI), and Berg's balance scale (BBS) before and after the eight weeks intervention period. A paired t-test was conducted to compare the within-group changes before and after the intervention. An independent t-test was used compare the between-group difference. The statistical significance level was set to α=0.05 for all variables. RESULTS: The EG I and II showed significant within-group changes in the VAS, PT, ODI, and BBS (p<0.05). The changes in VAS, PT, ODI, and BBS were similar regardless of the exercise form. CONCLUSION: In this study, the application of stretching and strengthening exercise for subjects who complain of CLBP was effective in changing the level of pain, PT, functional disability, and balance.
Exercise ; Humans ; Low Back Pain ; Pelvic Pain

PURPOSE: Bone morphogenetic proteins (BMPs) play an important role in the formation of cartilage and bone, as well as regulating the growth of chondroblasts and osteoblasts. In this study, we investigated whether recombinant human BMP adenoviruses are available for ex vivo gene therapy, using human fibroblasts and human bone marrow stromal cells in an animal spinal fusion model. MATERIALS AND METHODS: Human fibroblasts and human bone marrow stromal cells were transduced with recombinant BMP-2 adenovirus (AdBMP-2) or recombinant BMP-7 adenovirus (AdBMP-7), referred to as AdBMP-7/BMSC, AdBMP-2/BMSC, AdBMP-7/HuFb, and AdBMP-2/HuFb. We showed that each cell secreted active BMPs by alkaline phosphatase staining. Since AdBMP-2 or AdBMP-7 tranducing cells were injected into the paravertebral muscle of athymic nude mice, at 4 weeks and 7 weeks, we confirmed that new bone formation occurred by induction of spinal fusion on radiographs and histochemical staining. RESULTS: In the region where the AdBMP-7/BMSC was injected, new bone formation was observed in all cases and spinal fusion was induced in two of these. AdBMP-2/BMSC induced bone formation and spinal fusion occurred among one of five. However, in the region where AdBMP/HuFb was injected, neither bone formation nor spinal fusion was observed. CONCLUSION: The osteoinductivity of AdBMP-7 was superior to that of AdBMP-2. In addition, the human bone marrow stromal cells were more efficient than the human fibroblasts for bone formation and spinal fusion. Therefore, the results of this study suggest that AdBMP-7/ BMSC would be the most useful approach to ex vivo gene therapy for an animal spinal fusion model.
Adenoviridae* ; Alkaline Phosphatase ; Animals ; Bone Morphogenetic Protein 7 ; Bone Morphogenetic Proteins ; Cartilage ; Chondrocytes ; Fibroblasts ; Genetic Therapy* ; Humans* ; Mesenchymal Stromal Cells ; Mice ; Mice, Nude ; Osteoblasts ; Osteogenesis ; Spinal Fusion* ; Spine

PURPOSE: In recent years, laser surgery has been widely used to treat benign prostatic hyperplasia (BPH). A thulium:yttrium-aluminium-garnet (Tm:YAG) laser was recently introduced for BPH surgery. We compared the effectiveness and safety of Tm:YAG laser vaporesection of the prostate (ThuVaRP) with that of bipolar transurethral resection of the prostate (TURP). MATERIALS AND METHODS: From January 2010 to December 2012, 86 patients underwent surgical treatment for symptomatic BPH by a single surgeon. We retrospectively analyzed and compared the medical records of 43 patients who underwent ThuVaRP and 43 patients who underwent bipolar TURP. All patients were assessed by using the International Prostate Symptom Score, transrectal ultrasonography, the serum prostate-specific antigen (PSA) level, uroflowmetry, and postvoid residual volume before and 1 month after surgery. All complications were compared between the two groups. RESULTS: ThuVaRP was superior to TURP in catheterization time (p<0.001) and length of hospital stay (p<0.001). However, operation time was longer with ThuVaRP than with TURP (p<0.001). In patients with a large prostate (>50 g), operation time was much longer with ThuVaRP. One month after surgery, the decrease in PSA was greater (p=0.045) with ThuVaRP than with TURP, and the increase in maximal urine flow rate was greater (p<0.001) with ThuVaRP than with TURP. The postoperative complication transient urinary incontinence was significantly different between the ThuVaRP group (nine cases, 20.9%) and the TURP group (two cases, 4.7%). Other complications were comparable between groups. CONCLUSIONS: The effectiveness and safety of ThuVaRP and TURP were comparable. ThuVaRP is a promising alternative surgical technique to TURP for BPH.
Catheterization ; Catheters ; Humans ; Laser Therapy ; Length of Stay ; Medical Records ; Postoperative Complications ; Prostate* ; Prostate-Specific Antigen ; Prostatic Hyperplasia* ; Residual Volume ; Retrospective Studies ; Thulium ; Transurethral Resection of Prostate ; Ultrasonography ; Urinary Incontinence

PURPOSE: Several recent studies have reported the benefits of tubeless percutaneous nephrolithotomy (PNL). Postoperatively, tubeless PNL patients have an indwelling ureteral stent placed, which is often associated with stent-related morbidity. We have performed totally tubeless (tubeless and stentless) PNL in which no nephrostomy tube or ureteral stent is placed postoperatively. We evaluated the safety, effectiveness, and feasibility of totally tubeless PNL. MATERIALS AND METHODS: From March 2008 to February 2012, 57 selected patients underwent standard or totally tubeless PNL. Neither a nephrostomy tube nor a ureteral stent was placed in the totally tubeless PNL group. We compared patient and stone characteristics, operation time, length of hospitalization, analgesia requirements, stone-free rate, blood loss, change in creatinine, and perioperative complications between the standard and totally tubeless PNL groups. RESULTS: There were no significant differences in preoperative patient characteristics, postoperative complications, or the stone-free rate between the two groups, but the totally tubeless PNL group showed a shorter hospitalization and a lesser analgesic requirement compared with the standard PNL group. Blood loss and change in creatinine were not significantly different between the two groups. CONCLUSIONS: Totally tubeless PNL appears to be a safe and effective alternative for the management of renal stone patients and is associated with a decrease in length of hospital stay.
Analgesia ; Creatinine ; Hospitalization ; Humans ; Kidney Calculi ; Length of Stay ; Nephrostomy, Percutaneous ; Postoperative Complications ; Stents ; Ureter