• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.1-6
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• 2021

Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

• Korean Circulation Journal
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• 제48권11호
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• pp.964-973
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• 2018

The burden of valvular heart disease (VHD) is increasing with age, and the elderly patients with moderate or severe VHD are notably common. When to operate in asymptomatic patients with VHD remains controversial. The controversy is whether early surgical intervention should be preferred, or a watchful waiting approach should be followed. The beneficial effects of early surgery should be balanced against operative mortality and long-term results. Indications of early surgery in each of the VHD will be discussed in this review on the basis of the latest American and European guidelines.

• Childhood Kidney Diseases
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• 제28권1호
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• pp.1-7
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• 2024

Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.

• 대한핵의학회지
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• 제19권2호
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• pp.81-86
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• 1985

To evaluate the significance of serum $beta_2-microglobulin$ in patients with various liver diseases, serum $\beta_2m$ levels were measured in 44 cases of normal controls, 32 cases of asymptomatic HBsAg carriers and 134 patients with various liver diseases, by radioimmunoassay using Phadebas $Beta_2-micro$ test kits. The following results were obtained: 1) The mean level of serum $\beta_2m$ was $1.39{\pm}0.25mg/l(Mean{\pm}S.D.)$ in normal controls ($1.39{\pm}0.23mg/l$ in 24 males, $1.38{\pm}0.27mg/l$ in 20 females). 2) The serum levels of $\beta_2m$ in patients with various liver diseases and asymptomatic HBsAg carriers were as follows; $1.40{\pm}0.27mg/l$ in asymptomatic HBsAg carriers, $2.42{\pm}0.37mg/l$ in 45 patients with acute viral hepatitis, $2.10{\pm}0.26mg/l$ in 46 patients with chronic persistent hepatitis, $2.60{\pm}0.34mg/l$ in 23 patients with chronic active hepatitis, and $2.60{\pm}0.49mg/l$ in 20 patients with liver cirrhosis. Serum $\beta_2m$ levels of each disease group were significantly higher than that of normal controls(p<0.001). 3) There was significant correlation between the levels of serum $\beta_2m$ and the degrees of lymphocytic infiltration in patients with chronic active hepatitis(p<0.001). 4) Significant correlations were observed between the levels of serum $beta_2-microglobulin$ and serum alanine aminotransferase(r=0.68, p<0.05) and bilirubin(r=0.63, p<0.05) in 15 patients with acute viral hepatitis. In conclusion, the serum $beta_2-microglobulin$ levels were increased in patients with various liver diseases, and it may serve as a new index of liver disease activity.

• Hip & pelvis
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• 제34권1호
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• pp.25-34
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• 2022

Purpose: Mortality rates following hip fracture surgery have been well-studied. This study was conducted to examine mortality rates in asymptomatic patients presenting for treatment of acute hip fractures with concurrent positive COVID-19(+) tests compared to those with negative COVID-19(-) tests. Materials and Methods: A total of 149 consecutive patients undergoing hip fracture surgery during the COVID-19 pandemic at two academic medical centers were reviewed retrospectively. Patients were divided into two groups for comparative analysis: one group included asymptomatic patients with COVID-19+ tests versus COVID-19- tests. The primary outcome was mortality at 30-days and 90-days. Results: COVID-19+ patients had a higher mortality rate than COVID-19- patients at 30-days (26.7% vs 6.0%, P=0.005) and 90-days (41.7% vs 17.2%, P=0.046) and trended towards an increased length of hospital stay (10.1±6.2 vs 6.8±3.8 days, P=0.06). COVID-19+ patients had more pre-existing respiratory disease (46.7% vs 11.2%, P=0.0002). Results of a Cox regression analysis showed an increased risk of mortality at 30-days and 90-days from COVID-19+ status alone without an increased risk of death in patients with pre-existing chronic respiratory disease. Conclusion: Factors including time to surgery, age, preexisting comorbidities, and postoperative ambulatory status have been proven to affect mortality and complications in hip fracture patients; however, a positive COVID-19 test result adds another variable to this process. Implementation of protocols that will promote prompt orthogeriatric assessments, expedite patient transfer, limit operating room traffic, and optimize anesthesia time can preserve the standard of care in this unique patient population.

• Tuberculosis and Respiratory Diseases
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• 제74권3호
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• pp.134-139
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• 2013

Splenosis is defined as an autotransplantation of the splenic tissue after splenic rupture or splenectomy, and occurs most frequently in the peritoneal cavity. Splenosis is usually asymptomatic and is found incidentally. We report a case of combined intrathoracic and intraperitoneal splenosis in a 54-year-old male who worked as a miner for 10 years in his twenties, and was a current smoker. He was referred to our hospital for further evaluation of an incidental left diaphragmatic mass. Positron emission tomography-computed tomography and bronchoscopy were performed to evaluate the possibility of malignancy. There was no evidence of malignancy, but the spleen was not visualized. Reviewing his medical history revealed previous splenectomy, following a dynamite explosion injury. Therefore, splenosis was suspected and technetium-99m-labeled heat-damaged red blood cell scan confirmed the diagnosis. Radionuclide imaging is a useful diagnostic tool for splenosis, which could avoid unnecessary invasive procedures.

• Journal of Chest Surgery
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• 제26권9호
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• pp.696-700
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• 1993

Pulmonary aspergillosis is relatively rare disease, most commonly presenting pre-existing cavitary disease. This investigation is designed to illustrate the clinical features, preoperative diagnosis and surgical role in the management of this disease. In retrospective review of opeative cases since Jan. 1988, total 16 cases were analysis. Peak incidence of age lies in the 3rd & 5th decade[81.3%].The common presenting symptoms were hemoptysis & blood tinged sputum[90.9%] & all cases had a history of treatment with antituberculous drugs, but the tuberculosis was revealed in only 3 cases in the pathologic studies on specimen after resection. The locations of lesion were upper lobes in 13 cases, lower lobe in 2 cases, and left whole lobe in 1 case. The operative procedures for treatment of aspergillosis were performed. The lobectomy was performed in 7 cases, lobectomy & segmentectomy in 2 cases, lobectomy & decortication in 2 cases, segmentectomy in 3 cases, bilobectomy & segmentectomy in 1 case and pneumonectomy in 1 case. There was one death due to respiratory insufficiency 21 days later,postoperatively, and empyemas & residual space problems were developed in 2 & 3 cases,respectively. The empyemas were treated with open thoracostomy and the dead spaces was filled with granulation tissues within 6 months. During follow up, there was no recurrence. In conclusion, surgical resection is the treatment of choice for symptomatic aspergillosis and needed in asymptomatic patient to prevent possible fatal sequelae in the future.

• Journal of Trauma and Injury
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• 제33권2호
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• pp.119-123
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• 2020

The Coronavirus disease 2019 (COVID-19) has rapidly spread across the world and caused a pandemic. It can be transmitted by an infected person or an asymptomatic carrier and is a highly contagious disease. Prevention and early identification of COVID-19 are important to minimize the transmission of COVID-19. Chest computed tomography (CT) has a high sensitivity for detecting COVID-19, but relatively low specificity. Therefore, chest CT may be difficult to distinguish COVID-19 findings from those of other infectious (notably viral types of pneumonia) or noninfectious disease. Pulmonary contusion has also a lot of similarities on chest CT with COVID-19 pneumonia. We present trauma patients with pulmonary contusion whose CT scans showed findings similar to those of COVID-19, and we report our experience in the management of trauma patients during the COVID-19 pandemic.

• 대한소아신경학회지
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• 제24권3호
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• Journal of Ginseng Research
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• 제46권3호
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• pp.321-330
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• 2022

Coronavirus has been spreading rapidly around the world since it broke out in China in 2019. Respiratory diseases caused by coronavirus infection cause various diseases ranging from asymptomatic subclinical infections to severe pneumonia and cardiovascular complications, leading to death. In this regard, natural products are being studied to prevent various diseases caused by COVID-19. In current review, we would like to present mechanisms related to the inhibition of heart disease in ginseng and ginsenoside against SARS-CoV-2. In many previous studies, ginseng and ginsenoside are known to have antioxidant, blood flow improvement, improvement of vascular and heart function, blood pressure control, suppression of myocardial infarction and heart failure, and antiarrhythmia. Therefore, ginseng and ginsenoside have a possibility to suppress cardiovascular complications caused by COVID-19. Many of research provide evidence for ginseng and ginsenoside as treatments for the risk of cardiovascular complications. However, in this review, more specific contents on the proposition of the efficacy of ginseng and ginsenoside for COVID-19 should be presented. Therefore, we hope that researches to reduce cardiovascular complications of ginseng and ginsenoside for COVID-19 should be presented to reduce mortality for COVID-19.