• Title/Summary/Keyword: Etiologies

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The Relationship of Leptin (+19) AG, Leptin (2548) GA, and Leptin Receptor Gln223Arg Gene Polymorphisms with Obesity and Metabolic Syndrome in Obese Children and Adolescents

  • Bilge, Serap;Yilmaz, Resul;Karaslan, Erhan;Ozer, Samet;Ates, Omer;Ensari, Emel;Demir, Osman
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.24 no.3
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    • pp.306-315
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    • 2021
  • Purpose: Obesity is defined as the abnormal or excessive accumulation of fat over acceptable limits. Leptin is a metabolic hormone present in the circulation in amounts proportional to fat mass. Leptin reduces food intake and increases energy expenditure, thus regulating body weight and homeostasis. Various polymorphisms are present in the leptin gene and its receptor. These polymorphisms may be associated with obesity. This study aimed to show the association of leptin (+19) AG, leptin (2548) GA, and Gln223Arg leptin receptor polymorphisms with obesity and metabolic syndrome in Turkish children aged 6-17 years, and to conduct further investigations regarding the genetic etiology of obesity. Methods: A total of 174 patients diagnosed with obesity and 150 healthy children who were treated at Tokat Gaziosmanpasa Medical School Hospital between September 2014 and March 2015 were included in this study. The ages of the children were between 6 and 17 years, and anthropometric and laboratory results were recorded. Genotyping of leptin (+19) AG, leptin (2548) GA, and leptin receptor Gln223Arg polymorphisms was performed by polymerase chain reaction. Results: An association between leptin receptor Gln223Arg gene polymorphism and obesity was detected. Conclusion: Further studies are needed to determine the role of genetic etiologies and to indicate the role of leptin signal transmission impairment in the pathogenesis of obesity. We hope that gene therapy can soon provide a solution for obesity.

Oxidative stress-induced aberrant G9a activation disturbs RE-1-containing neuron-specific genes expression, leading to degeneration in human SH-SY5Y neuroblastoma cells

  • Kim, Ho-Tae;Ohn, Takbum;Jeong, Sin-Gu;Song, Anji;Jang, Chul Ho;Cho, Gwang-Won
    • The Korean Journal of Physiology and Pharmacology
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    • v.25 no.1
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    • pp.51-58
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    • 2021
  • Oxidative stress-induced neurodegeneration is one of several etiologies underlying neurodegenerative disease. In the present study, we investigated the functional role of histone methyltransferase G9a in oxidative stress-induced degeneration in human SH-SY5Y neuroblastoma cells. Cell viability significantly decreased on H2O2 treatment; however, treatment with the G9a inhibitor BIX01294 partially attenuated this effect. The expression of neuron-specific genes also decreased in H2O2-treated cells; however, it recovered on G9a inhibition. H2O2-treated cells showed high levels of H3K9me2 (histone H3 demethylated at the lysine 9 residue), which is produced by G9a activation; BIX01294 treatment reduced aberrant activation of G9a. H3K9me2 occupancy of the RE-1 site in neuron-specific genes was significantly increased in H2O2-treated cells, whereas it was decreased in BIX01294-treated cells. The differentiation of H2O2-treated cells also recovered on G9a inhibition by BIX01294. Consistent results were observed when used another G9a inhibitor UCN0321. These results demonstrate that oxidative stress induces aberrant activation of G9a, which disturbs the expression of neuron-specific genes and progressively mediates neuronal cell death. Moreover, a G9a inhibitor can lessen aberrant G9a activity and prevent neuronal damage. G9a inhibition may therefore contribute to the prevention of oxidative stress-induced neurodegeneration.

Predictor of Liver Biochemistry Improvement in Patients with Cytomegalovirus Cholestasis after Ganciclovir Treatment

  • Puspita, Gina;Widowati, Titis;Triono, Agung
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.25 no.1
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    • pp.70-78
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    • 2022
  • Purpose: Cholestasis resulting from cytomegalovirus (CMV)-induced hepatitis manifests in 40% of patients with a CMV infection. Ganciclovir treatment in children with CMV infections has proven to be highly effective. Until now, there are very few studies have identified predictive factors for liver biochemistry improvement after ganciclovir therapy. This study aimed to identify the predictors of liver biochemistry improvement in patients with CMV cholestasis after ganciclovir treatment. Methods: A retrospective cohort study was conducted using medical records from Dr. Sardjito General Hospital Yogyakarta, Indonesia from 2013 to 2018. CMV cholestasis was confirmed based on serum CMV IgG and IgM positivity and/or blood and urine CMV antigenemia positivity. Incomplete medical records and other etiologies for cholestasis, such as biliary atresia, choledochal cyst, metabolic diseases, and Alagille syndrome, were excluded. Patient age at cholestasis diagnosis and ganciclovir treatment, duration of CMV cholestasis, history of prematurity, central nervous system involvement, and nutritional status were analyzed and presented as an odds ratio (OR) with a 95% confidence interval (95% CI). Results: CMV cholestasis with ganciclovir therapy was found in 41 of 54 patients. Multivariate analysis showed that a shorter duration of CMV cholestasis (OR: 4.6, 95% CI: 1.00-21.07, p=0.04) was statistically significant for liver biochemistry improvement after 1 month of ganciclovir treatment. The remaining factors that were analyzed were not significant predictors of liver biochemistry improvement in patients with CMV cholestasis after ganciclovir treatment. Conclusion: A shorter duration of CMV cholestasis is the predictor of liver biochemistry improvement after 1 month gancyclovir treatment.

Incidence and management of mandibular fractures in a low-resource health facility in Ghana

  • Frimpong, Paul;Nguyen, Truc Thi Hoang;Sodnom-Ish, Buyanbileg;Nimatu, Edinam Salia;Dampare, Nana Yaa Asantewaa;Rockson, Roberta;Awuah, Samuel Baffour;Amponsah, Emmanuel Kofi;Newton, Cardinal;Kim, Soung Min
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.47 no.6
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    • pp.432-437
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    • 2021
  • Objectives: The mandible and other parts of the maxillofacial region suffer significant morbid injuries following road traffic accidents. Our study gives epidemiological description of mandibular fractures in Ghana and also evaluates the relevance of closed reduction and indirect fixation for managing mandibular fractures in low-resource health facilities in low-income countries like Ghana. Patients and Methods: This is a retrospective study involving 268 patients who reported to the Department of Oral and Maxillofacial Surgery of the Sunyani Regional Hospital with mandibular fractures from January 2010 to December 2019. Patient medical records were assessed for information on age, sex, fracture etiology, anatomic location of fracture, time of day of road traffic accident, and other associated injuries. Results: A total of 268 patients were included in this study (males, 216 [80.6%]; females, 52 [19.4%]). Motor vehicular accident (MVA) was the leading cause of mandibular fractures (202 injuries, 75.4%). Other etiologies included assault (39, 14.6%), gunshot (13, 4.9%), falls (12, 4.5%), and industrial accidents (2, 0.7%). Of the 161 male cases caused by MVA, 121 (75.2%) occurred at night and in the evening while the remaining 40 (24.8%) occurred in the morning and afternoon. Among all managed 222 patients, 212 (79.1%) were treated with closed reduction and indirect fixation technique while 10 (3.7%) were treated with open reduction and direct fixation. Conclusion: Closed reduction with indirect fixation could successfully be used to manage mandibular fractures in low resourced health facilities, especially in low-income countries. The poor lightening system on roads in Ghana is a major contributory factor to motor vehicular accidents.

Regional disparities related to cardiovascular diseases and diet quality in Korean adults: based on the 2013-2016 Korea National Health and Nutrition Examination Survey Data

  • Bo Young, Seo;Eun Sil, Her
    • Nutrition Research and Practice
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    • v.16 no.6
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    • pp.755-764
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    • 2022
  • BACKGROUND/OBJECTIVES: Cardiovascular diseases (CVDs) are the leading cause of death in Koreans, and eating habits, including diet quality, are among the etiologies of these diseases. Recently, various studies on regional health disparities have been conducted. However, there are limited studies on their relationship with nutritional factors. This study aimed to identify the magnitude of regional disparities in diet quality and prevalence of CVD in Korean adults. SUBJECTS/METHODS: This study included 17,646 participants aged ≥ 20 years from the 7th (2013-2016) Korean National Health and Nutrition Examination Survey. Participants were classified into four groups based on their residential areas: City 1, City 2, City 3, and non-city. Demographic characteristics, health-related factors, body mass index (BMI), metabolic syndrome index, diet quality, and CVD prevalence were evaluated. RESULTS: In terms of demographic characteristics, age (P < 0.001), marital status (P < 0.001), educational level (P < 0.001), and income (P < 0.001) were lower in the non-city category. Health-related factors such as monthly drinking rate (P < 0.01) and mental stress (P < 0.05) were the highest in City 1 and lowest in the non-city group. Conversely, the current smoking rate (P < 0.05), BMI (P < 0.05), and prevalence of metabolic syndrome (P < 0.001) were the highest in the non-city group (P < 0.05). The non-city group also had the highest prevalence of CVDs (35.6%). This group had the lowest diet quality index (68.36 ± 0.22, P < 0.01), caused by low intake of fruit and calcium, a lack of sodium moderation, and an overall imbalance in the macronutrient and fatty acid ratio. When the diet quality index was increased by 1, the odds ratio for the prevalence of CVDs was reduced by 0.991 (P < 0.001), but this was not the case in all regions. CONCLUSIONS: This study provides useful information and data in identifying and resolving the regional health disparities related to CVD prevalence and implementation of public health nutrition systems.

CT imaging features of fat stranding in cats and dogs with abdominal disorder

  • Seolyn, Jang;Suhyun, Lee;Jihye, Choi
    • Journal of Veterinary Science
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    • v.23 no.6
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    • pp.70.1-70.13
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    • 2022
  • Background: Fat stranding is a non-specific finding of an increased fat attenuation on computed tomography (CT) images. Fat stranding is used for detecting the underlying lesion in humans. Objectives: To assess the clinical significance of fat stranding on CT images for identifying the underlying cause in dogs and cats. Methods: In this retrospective study, the incidence, location, extent, distribution, and pattern of fat stranding were assessed on CT studies obtained from 134 cases. Results: Fat stranding was found in 38% (51/134) of all cases and in 35% (37/107) of tumors, which was significantly higher in malignant tumors (44%) than benign tumors (12%). Moreover, fat stranding was found in more than two areas in malignant tumors (16/33) and in a single area in benign tumors (4/4). In inflammation, fat stranding was demonstrated in 54% (7/13) in a single area (7/7) as a focal distribution (6/7). In trauma, fat stranding was revealed in 50% (7/14) and most were in multiple areas (6/7). Regardless of the etiologies, fat stranding was always around the underlying lesion and a reticular pattern was the most common presentation. Logistic regression analysis revealed that multiple areas (p = 0.040) of fat stranding and a reticulonodular pattern (p = 0.022) are the significant predictors of malignant tumor. Conclusions: These findings indicated that CT fat stranding can be used as a clue for identifying the underlying lesion and can be useful for narrowing the differential list based on the extent and pattern.

Arthroscopic release in adhesive capsulitis of the shoulder: a retrospective study with 2 to 6 years of follow-up

  • Mardani-Kivi, Mohsen;Hashemi-Motlagh, Keyvan;Darabipour, Zohre
    • Clinics in Shoulder and Elbow
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    • v.24 no.3
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    • pp.172-177
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    • 2021
  • Background: This study aimed to evaluate the response rate to arthroscopic release treatment in adhesive capsulitis of the shoulder (ACS) for patients with refractory to conservative treatment. Methods: In this retrospective study, 51 patients (age mean, 49.1±5.6 years) with unilateral adherent capsule underwent arthroscopic releasing surgery for the shoulder capsule. Etiologies of the ACS in 30 patients were idiopathic: 10 patients were affected after surgery and 11 patients following trauma. The patients were evaluated in terms of shoulder function, satisfaction rate, pain intensity, and joint range of motion (ROM) based on a Constant score, a Simple Shoulder Test, the visual analog scale, and four movements, respectively. Results: The mean Constant score before surgery was 48.2±3.5 and reached 74.4±6 and 77.0±6.3 at 6 months and the final follow-up, respectively (p<0.001). The mean scores of pain intensity, a Simple Shoulder Test, and ROM showed significant improvement at all follow-ups (p<0.001). Sex, age, and diabetes did not have any significant effect on patient recovery. However, patients who experienced ACS after surgery had poorer results than others at all follow-up points. Conclusions: Arthroscopic releasing surgery of the shoulder in patients with ACS refractory to conservative treatment produces rare complications and an effective injury response. It seems that patients suffering ACS following surgery have a weaker response to the treatment.

Extracorporeal Shock Wave Therapy for Hypertrophic Scars

  • Chuangsuwanich, Apirag;Kongkunnavat, Natthapong;Kamanamool, Malika;Maipeng, Gulradar;Kamanamool, Nanticha;Tonaree, Warangkana
    • Archives of Plastic Surgery
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    • v.49 no.4
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    • pp.554-560
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    • 2022
  • Background Hypertrophic scars cause aesthetic concerns and negatively affect the quality of life. A gold standard treatment for hypertrophic scars has not been established due to various responses of modalities. Extracorporeal shock wave therapy (ESWT) is a noninvasive and affects scar remodeling by fibroblast regulation. This study investigated the effectiveness of ESWT for hypertrophic scars. Methods Twenty-nine patients were enrolled. All patients underwent ESWT once a week for 6 consecutive weeks. Their scars were assessed using the Patient and Observer Scar Assessment Scale (POSAS), erythema index, melanin index, and scar pliability before treatment and again 4 weeks after treatment completion. Results Thirty-four hypertrophic scars in this study had persisted for between 6 months and 30 years. Most scars developed after surgical incision (55.88%). The chest and upper extremities were the predominant areas of occurrence (35.29% each). Most of the POSAS subscales and total scores were significantly improved 4 weeks after treatment (p < 0.05). Furthermore, the pain, itching, and pigmentation subscale were improved. The pliability, melanin index, and erythema index were also improved, but without significance. The patients were satisfied with the results and symptoms alleviation, although subjective score changes were insignificant. No serious adverse events were found. The patients reported pruritus in 62.5% and good pain tolerance in 37.5%. Subgroup analyses found no differences in scar etiologies or properties at different parts of the body. Conclusion The ESWT is a modality for hypertrophic scar treatment with promising results. Most of POSAS subscales were significantly improved.

Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome

  • Dayun Kang;Hwa Young Kim;Jong-Hee Chae;Jung Min Ko
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.85-93
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    • 2022
  • Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. Materials and Methods: The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. Results: The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). Conclusion: We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

Development of Holter ECG Monitor with Improved ECG R-peak Detection Accuracy (R 피크 검출 정확도를 개선한 홀터 심전도 모니터의 개발)

  • Junghyeon Choi;Minho Kang;Junho Park;Keekoo Kwon;Taewuk Bae;Jun-Mo Park
    • Journal of the Institute of Convergence Signal Processing
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    • v.23 no.2
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    • pp.62-69
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    • 2022
  • An electrocardiogram (ECG) is one of the most important biosignals, and in particular, continuous ECG monitoring is very important in patients with arrhythmia. There are many different types of arrhythmia (sinus node, sinus tachycardia, atrial premature beat (APB), and ventricular fibrillation) depending on the cause, and continuous ECG monitoring during daily life is very important for early diagnosis of arrhythmias and setting treatment directions. The ECG signal of arrhythmia patients is very unstable, and it is difficult to detect the R-peak point, which is a key feature for automatic arrhythmias detection. In this study, we develped a continuous measuring Holter ECG monitoring device and software for analysis and confirmed the utility of R-peak of the ECG signal with MIT-BIH arrhythmia database. In future studies, it needs the validation of algorithms and clinical data for morphological classification and prediction of arrhythmias due to various etiologies.