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Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.
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Background@#CycloZ, a combination of cyclo-His-Pro and zinc, has anti-diabetic activity. However, its exact mode of action remains to be elucidated. @*Methods@#KK-Ay mice, a type 2 diabetes mellitus (T2DM) model, were administered CycloZ either as a preventive intervention, or as a therapy. Glycemic control was evaluated using the oral glucose tolerance test (OGTT), and glycosylated hemoglobin (HbA1c) levels. Liver and visceral adipose tissues (VATs) were used for histological evaluation, gene expression analysis, and protein expression analysis. @*Results@#CycloZ administration improved glycemic control in KK-Ay mice in both prophylactic and therapeutic studies. Lysine acetylation of peroxisome proliferator-activated receptor gamma coactivator 1-alpha, liver kinase B1, and nuclear factor-κB p65 was decreased in the liver and VATs in CycloZ-treated mice. In addition, CycloZ treatment improved mitochondrial function, lipid oxidation, and inflammation in the liver and VATs of mice. CycloZ treatment also increased the level of β-nicotinamide adenine dinucleotide (NAD+), which affected the activity of deacetylases, such as sirtuin 1 (Sirt1). @*Conclusion@#Our findings suggest that the beneficial effects of CycloZ on diabetes and obesity occur through increased NAD+ synthesis, which modulates Sirt1 deacetylase activity in the liver and VATs. Given that the mode of action of an NAD+ booster or Sirt1 deacetylase activator is different from that of traditional T2DM drugs, CycloZ would be considered a novel therapeutic option for the treatment of T2DM.
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Differentiating Crohn’s disease (CD) from intestinal tuberculosis (TB) is a challenge. In patients suspected of having CD or intestinal TB compounded with active pulmonary TB in its early stages, clinicians often lean towards a diagnosis of intestinal TB. A 14-year-old female patient was admitted with symptoms of abdominal pain and diarrhea with hematochezia. Colonoscopy revealed a stricture of the ileocecal valve and scattered longitudinal ulcers. Initial chest radiography showed consolidation in the left lower lobe of the lung. Chest CT revealed branching nodular opacities and consolidation. The TB PCR of the bronchial washing fluid was positive. The patient was diagnosed with pulmonary and intestinal TB. The colonoscopy findings favored CD. Despite this, anti-tubercular therapy was initiated based on the radiology findings and PCR test. After treatment with anti-tubercular therapy, the patient’s diarrhea and abdominal pain worsened despite the improvement observed on her chest radiography. Follow-up colonoscopy revealed aggravation of her ulcers. The patient was diagnosed with CD and treated with prednisolone and mesalazine. Her clinical condition improved, and follow-up colonoscopy showed significant improvement of the ulcers. This case highlights the need for caution in diagnosis and suggests that clinicians consider reevaluation in similar cases.
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The purpose of this pictorial essay is to describe the ultrasonographic and clinical findings of patients with small testes due to a wide range of causes. We retrospectively reviewed the ultrasonographic and clinical findings of various causes of small testes. We present various causes of small testes on ultrasonography including Klinefelter syndrome, testicular torsion, mumps orchitis, inguinal hernia, cryptorchidism, varicocele, and trauma. On ultrasonography, small testes in patients with testicular torsion, mumps orchitis, and trauma usually showed heterogeneous echogenicity. Atrophic testes were homogeneously hypoechoic in patients with cryptorchidism and inguinal hernia and were isoechoic to the normal testis in patients with varicocele. Klinefelter syndrome patients had small hyperechoic or hypoechoic nodules, but the echogenicity of the remnant portion of the testes was homogeneous. Ultrasonography is helpful for detecting small testes and for the differential diagnosis of the various possible causes of small testes.
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A nationwide survey of chigger mites causing scrub typhus and an investigation of epidemiologic factors for chigger mites was conducted at 16 localities in 8 provinces in Korea during autumn 2009, 2012, and 2013. A total of 233 Apodemus agrarius were captured, and all were infested with chigger mites. The chigger index was highest in Chungcheongbuk-do in 2009 (358.3) and 2012 (290.1) and Chungcheongnam-do in 2013 (294.4). The predominant chigger mite species was Leptotrombidium pallidum in the northern and central parts and L. scutellare in the southern and western parts, Korea. L. pallidum was not found in Jellanam-do and Gyeongsangnam-do and the distribution of L. scutellare had been expanded in the northern parts of Korea. The chigger index of L. pallidum was positively correlated with temperature and negatively correlated with humidity. The incidence of scrub typhus is dependent on L. scutellare index. These findings could be helpful to monitor the distribution of chigger mites and to develop a preventive measures for scrub typhus in Korea.
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Purpose@#The mass of facial muscles can be increased through exercise, as is also the case for muscles in the extremities. This systematic review was conducted to investigate the effect of facial exercises on facial muscle strengthening and facial rejuvenation, focusing on recent studies. @*Methods@#A literature search was performed using the PubMed, ScienceDirect, and Web of Science databases. The quality of the trials was evaluated according to the PEDro scale. In total, 11 studies were included in this review: four studies on facial exercise for facial rejuvenation and seven studies on strengthening the muscles of the face. @*Results@#Facial exercises for facial rejuvenation increased the mechanical properties and elasticity of the skin of the face and neck, the thickness and cross-sectional area of the facial muscles, and the fullness of the upper and lower cheeks. @*Conclusion@#A study aimed at strengthening facial muscles showed improvements in labial closure strength and tongue elevation strength. Despite the positive results for facial rejuvenation and muscle strengthening, the level of evidence was low. Therefore, in future research, it will be necessary to investigate the effects of facial exercise in a thoroughly controlled experiment with a sufficient sample size to increase the level of evidence.
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Eosinophilic colitis is a rare disease that is characterized by eosinophilic infiltration in the colon wall in symptomatic patients. Thus far, the epidemiology and pathophysiology of eosinophilic colitis have not been well defined, but the hypersensitivity response is likely to play a role in its pathogenesis. The clinical presentation of eosinophilic colitis is usually nonspecific and depends on the layer of the intestinal wall affected by the eosinophilic infiltrate. Eosinophilic colitis is diagnosed generally by exclusion, i.e., after all other causes of eosinophilic infiltration have been excluded. Although there is no consensus over its diagnostic criteria, the laboratory results and radiology and endoscopy findings can provide important diagnostic evidence. This paper reports a case of eosinophilic colitis presenting as subepithelial tumor-like lesions in a 41-year-old man with the chief complaints of abdominal pain and loose stools. The patient had no diseases and no food or drug allergies in his medical history. In general, the endoscopic findings of eosinophilic colitis can vary from a normal mucosa to frank ulcerations. In this case, however, endoscopy revealed subepithelial tumor-like lesions. The colon biopsy showed eosinophilic infiltration in the lamina propria. The patient was treated with steroids, and his symptoms regressed with no signs of relapse.
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Transurethral resection (TUR) is the gold standard treatment of non-muscle invasive bladder cancers. Recurrence occurs in approximately half of the patients with bladder cancer after initial TUR. Most recurrent bladder cancers present as polypoid masses with intraluminal growth originating from the mucosa. To the best of our knowledge, there has been no report on imaging findings of recurrent bladder cancers located within the subepithelial and intramural layers. Recurrent cancers within the intramural layer are difficult to detect with cystoscopy; they are also difficult to remove surgically. Imaging studies reveal the most important indicators for diagnosing subepithelial recurrent cancers. Here, we present a rare case of a recurrent bladder cancer within the subepithelial layer detected on imaging.
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Xanthogranulomatous pyelonephritis (XGP) is a rare type of chronic bacterial nephritis, which rarely involves the invasion of adjacent organs or the formation of fistulas due to tissue-destructive granulomatous reactions. Although the invasions of various adjacent organs have been reported in several cases of XGP, MRI data on their features are limited. MRI has a better soft-tissue resolution than CT. Thus, it can identify the extent of extrarenal involvement in advanced XGP, and the findings can be used in treatment planning. Herein, we report a rare case of XGP with nephropleural fistula formation diagnosed using CT and MRI.
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Purpose@#This study examined the effects of the application of Schroth exercise-based instrument Pilates exercise on the Cobb’s angle, angle of trunk rotation, and low back pain of female patients with idiopathic scoliosis. @*Methods@#Three patients with idiopathic scoliosis at a Cobb’s angle of 20° or more participated in this study. Among the single-subject experimental research designs, a reversal (ABA) design was performed. In particular, Schroth exercise-based instrument, Pilates exercise, was performed for 10 weeks, consisting of five weeks between the baseline and intervention one period and five weeks between the intervention 1 and intervention 2 periods, and then followed up for five weeks. @*Results@#After the Schroth exercise-based instrument, Pilates exercise, was applied, the Cobb’s angle and the angle of trunk rotation decreased compared to the baseline in all subjects, and the follow-up period also showed a continuous decline. After Pilates exercise was performed, low back pain in subjects 1 and 2 was decreased in the intervention 1 period compared to the baseline. The level of low back pain in the intervention 2 period increased compared to the intervention 1 period, but a reduction was noted in the follow-up period. The low back pain in the subject was decreased in all intervention periods and the follow-up period. @*Conclusion@#Schroth exercise-based Pilates exercise improves the Cobb’s angle and the angle of trunk rotation for female patients with idiopathic scoliosis in their teens and 20s, and an effective intervention method is proposed for low back pain.
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Eosinophilic colitis is a rare disease that is characterized by eosinophilic infiltration in the colon wall in symptomatic patients. Thus far, the epidemiology and pathophysiology of eosinophilic colitis have not been well defined, but the hypersensitivity response is likely to play a role in its pathogenesis. The clinical presentation of eosinophilic colitis is usually nonspecific and depends on the layer of the intestinal wall affected by the eosinophilic infiltrate. Eosinophilic colitis is diagnosed generally by exclusion, i.e., after all other causes of eosinophilic infiltration have been excluded. Although there is no consensus over its diagnostic criteria, the laboratory results and radiology and endoscopy findings can provide important diagnostic evidence. This paper reports a case of eosinophilic colitis presenting as subepithelial tumor-like lesions in a 41-year-old man with the chief complaints of abdominal pain and loose stools. The patient had no diseases and no food or drug allergies in his medical history. In general, the endoscopic findings of eosinophilic colitis can vary from a normal mucosa to frank ulcerations. In this case, however, endoscopy revealed subepithelial tumor-like lesions. The colon biopsy showed eosinophilic infiltration in the lamina propria. The patient was treated with steroids, and his symptoms regressed with no signs of relapse.
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Purpose@#This study examined the effects of the application of Schroth exercise-based instrument Pilates exercise on the Cobb’s angle, angle of trunk rotation, and low back pain of female patients with idiopathic scoliosis. @*Methods@#Three patients with idiopathic scoliosis at a Cobb’s angle of 20° or more participated in this study. Among the single-subject experimental research designs, a reversal (ABA) design was performed. In particular, Schroth exercise-based instrument, Pilates exercise, was performed for 10 weeks, consisting of five weeks between the baseline and intervention one period and five weeks between the intervention 1 and intervention 2 periods, and then followed up for five weeks. @*Results@#After the Schroth exercise-based instrument, Pilates exercise, was applied, the Cobb’s angle and the angle of trunk rotation decreased compared to the baseline in all subjects, and the follow-up period also showed a continuous decline. After Pilates exercise was performed, low back pain in subjects 1 and 2 was decreased in the intervention 1 period compared to the baseline. The level of low back pain in the intervention 2 period increased compared to the intervention 1 period, but a reduction was noted in the follow-up period. The low back pain in the subject was decreased in all intervention periods and the follow-up period. @*Conclusion@#Schroth exercise-based Pilates exercise improves the Cobb’s angle and the angle of trunk rotation for female patients with idiopathic scoliosis in their teens and 20s, and an effective intervention method is proposed for low back pain.
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Transurethral resection (TUR) is the gold standard treatment of non-muscle invasive bladder cancers. Recurrence occurs in approximately half of the patients with bladder cancer after initial TUR. Most recurrent bladder cancers present as polypoid masses with intraluminal growth originating from the mucosa. To the best of our knowledge, there has been no report on imaging findings of recurrent bladder cancers located within the subepithelial and intramural layers. Recurrent cancers within the intramural layer are difficult to detect with cystoscopy; they are also difficult to remove surgically. Imaging studies reveal the most important indicators for diagnosing subepithelial recurrent cancers. Here, we present a rare case of a recurrent bladder cancer within the subepithelial layer detected on imaging.
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Xanthogranulomatous pyelonephritis (XGP) is a rare type of chronic bacterial nephritis, which rarely involves the invasion of adjacent organs or the formation of fistulas due to tissue-destructive granulomatous reactions. Although the invasions of various adjacent organs have been reported in several cases of XGP, MRI data on their features are limited. MRI has a better soft-tissue resolution than CT. Thus, it can identify the extent of extrarenal involvement in advanced XGP, and the findings can be used in treatment planning. Herein, we report a rare case of XGP with nephropleural fistula formation diagnosed using CT and MRI.
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Methods@#A total of 12 C57BL/6 male mice (Orient Bio), aged 6 weeks, were fed a high-fat diet for 13 weeks to construct a diet-induced obesity model. During the following 5 weeks, diet-induced obese mice were daily administered cannabis extract or sesame seed oil orally along with the high-fat diet. The body weight of each subject was measured weekly. Venous blood was drawn for biochemistry, enzyme-linked immunoassay, and oral glucose tolerance test before and after treatment. Body fat was measured by dual-energy X-ray absorptiometry, and the mesenteric adipose tissue was also measured after sacrifice. We used exact Wilcoxon’s two-sample analyses and generalized estimating equations to test the differences between the cannabis-treated group and control. @*Results@#There was significant weight loss (p=0.009) observed in the cannabis-treated mice compared to the control group after 5 weeks of treatment. High-fat diet-induced glucose intolerance in the cannabis-treated group was significantly ameliorated (p=0.032), whereas there were no profound differences between the two groups in terms of other physiological markers, including corticosterone level. @*Conclusion@#This study shows that orally administered cannabis extract had a pharmacological effect of weight loss in diet-induced obese mice. This weight loss might be attributed to an increase in energy expenditure and regulation of glucose homeostasis.
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Purpose@#The purpose of this study was to describe the ultrasonographic findings of testicular atrophy after mumps orchitis. @*Methods@#We retrospectively reviewed the case files of eight patients (14 to 24 years old; mean, 17 years) with mumps orchitis and testicular atrophy who were treated between January 2011 and September 2017. On gray-scale and color Doppler, the ultrasonographic features of volume, shape, echogenicity, and degree of blood flow in the testes were analyzed as part of both initial and follow-up ultrasonography. The duration between the initial diagnosis of mumps orchitis and the ultrasonographic diagnosis of testicular atrophy after mumps orchitis ranged from 25 to 230 days (mean, 95.9 days). @*Results@#Of the eight patients with testicular atrophy after mumps orchitis, the testes were affected unilaterally in seven patients (6 right-sided and 1 left-sided) and bilaterally in one patient. The affected testes (n=9) were 23%-55% (mean, 44.7%) smaller in volume (mean, 6.3±2.0 mL) than the contralateral normal testes (n=7) (mean, 10.8±2.3 mL) on follow-up ultrasonography (P=0.001). The shape of the atrophic testes was oblong in seven cases and elliptical in two cases. The atrophic testes were either heterogeneously hypoechoic with multiple hyperechoic islands (n=7) or heterogeneously hyperechoic (n=2). On follow-up color Doppler ultrasonography, the degree of vascularity of the atrophic testis was either similar to (n=3) or lower than (n=6) that of the contralateral testis. @*Conclusion@#On ultrasonography, atrophic testes after mumps orchitis tended to exhibit an oblong shape, heterogeneous low echogenicity with multiple hyperechoic islands, and decreased vascularity.
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Humans , Emergencies , Emergency Service, Hospital , Emigrants and Immigrants , Ethnicity , Health Services , Healthcare Disparities , Information Systems , Insurance , Intensive Care Units , Mortality , Odds Ratio , Population Groups , Socioeconomic Factors , Wounds and InjuriesABSTRACT
Purpose@#This study examined the research trends using G-power centered on major Korean registered sites and presents the research trends of studies with a high level of evidence.Method: This study selected three research journals listed in the Korea Research Foundation among physical therapy journals in the field of physiotherapy. The selected papers were classified according to the following: 1) study type, 2) study level, and 3) quality of the study.Result: Sixty-nine articles were selected and classified according to the study type. The musculoskeletal system, central nervous system, and others comprised 73.91% (n=51), 17.39% (n=12), and 8.7% (n=6), respectively. The results were classified into 62 experimental studies, four observational analytic studies, and three descriptive studies. The experimental studies included 22 randomized controlled trials (level 2) and 40 non-randomized trials (level 3). Sixteen randomized controlled trials were classified for a qualitative evaluation, and 12 papers with a score of six or more (good) were found. @*Conclusion@#Many high-level studies were found in G-power, and the quality of the study was also good. Therefore, the effective number of samples obtained using G-power is one of the ways to enable high-quality research.
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Purpose@#This study examined the research trends using G-power centered on major Korean registered sites and presents the research trends of studies with a high level of evidence.Method: This study selected three research journals listed in the Korea Research Foundation among physical therapy journals in the field of physiotherapy. The selected papers were classified according to the following: 1) study type, 2) study level, and 3) quality of the study.Result: Sixty-nine articles were selected and classified according to the study type. The musculoskeletal system, central nervous system, and others comprised 73.91% (n=51), 17.39% (n=12), and 8.7% (n=6), respectively. The results were classified into 62 experimental studies, four observational analytic studies, and three descriptive studies. The experimental studies included 22 randomized controlled trials (level 2) and 40 non-randomized trials (level 3). Sixteen randomized controlled trials were classified for a qualitative evaluation, and 12 papers with a score of six or more (good) were found. @*Conclusion@#Many high-level studies were found in G-power, and the quality of the study was also good. Therefore, the effective number of samples obtained using G-power is one of the ways to enable high-quality research.
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PURPOSE: This study was conducted to evaluate the relationship between epidermal growth factor receptor (EGFR) mutation and clinical outcomes in patients with stage III non-squamous cell lung cancer treated with definitive concurrent chemoradiotherapy (CCRT). MATERIALS AND METHODS: From January 2008 to December 2013, the medical records of 197 patients with stage III non- squamous non-small cell lung cancer treated with definitive CCRT were analyzed to determine progression-free survival (PFS) and overall survival (OS) according to EGFR mutation status. RESULTS: Among 197 eligible patients, 81 patients were EGFR wild type, 36 patients had an EGFR mutation (exon 19 Del, n=18; L858R, n=9, uncommon [G719X, L868, T790M], n=9), and 80 patients had unknown EGFR status. The median age was 59 years (range, 28 to 80 years) and 136 patients (69.0%) were male. The median follow-up duration was 66.5 months (range, 1.9 to 114.5 months). One hundred sixty-four patients (83.2%) experienced disease progression. Median PFS was 8.9 months for the EGFR mutation group, 11.8 months for EGFR wild type, and 10.5 months for the unknown EGFR group (p=0.013 and p=0.042, respectively). The most common site of metastasis in the EGFR mutant group was the brain. However, there was no significant difference in OS among the three groups (34.6 months for EGFR mutant group vs. 31.9 months for EGFR wild type vs. 22.6 months for EGFR unknown group; p=0.792 and p=0.284). A total of 29 patients (80.6%) with EGFR mutation were treated with EGFR tyrosine kinase inhibitor (gefitinib, n=24; erlotinib, n=3; afatinib, n=2) upon progression. CONCLUSION: EGFR mutation is associatedwith short PFS and the brain is the most common site of distant metastasis in patients with stage III non- squamous cell lung cancer treated with CCRT.