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1.
Sensors (Basel) ; 23(23)2023 Nov 22.
Article in English | MEDLINE | ID: mdl-38067702

ABSTRACT

This paper introduces an n-type pseudo-static gain cell (PS-nGC) embedded within dynamic random-access memory (eDRAM) for high-speed processing-in-memory (PIM) applications. The PS-nGC leverages a two-transistor (2T) gain cell and employs an n-type pseudo-static leakage compensation (n-type PSLC) circuit to significantly extend the eDRAM's retention time. The implementation of a homogeneous NMOS-based 2T gain cell not only reduces write access times but also benefits from a boosted write wordline technique. In a comparison with the previous pseudo-static gain cell design, the proposed PS-nGC exhibits improvements in write and read access times, achieving 3.27 times and 1.81 times reductions in write access time and read access time, respectively. Furthermore, the PS-nGC demonstrates versatility by accommodating a wide supply voltage range, spanning from 0.7 to 1.2 V, while maintaining an operating frequency of 667 MHz. Fabricated using a 28 nm complementary metal oxide semiconductor (CMOS) process, the prototype features an efficient active area, occupying a mere 0.284 µm2 per bitcell for the 4 kb eDRAM macro. Under various operational conditions, including different processes, voltages, and temperatures, the proposed PS-nGC of eDRAM consistently provides speedy and reliable read and write operations.

2.
Sci Rep ; 13(1): 13478, 2023 08 18.
Article in English | MEDLINE | ID: mdl-37596298

ABSTRACT

The aim of this study is to identifying post treatment recurrence rates in pneumothorax patients under 35 and without any comorbidities according to the treatment types, gender, and age categories based on nationwide population data. Clinical information of pneumothorax patients was extracted from the Korean National Health Insurance Service (NHIS) database between January 2002 and December 2020. Enrolled patients were categorized into two groups; (1) Group I, those who underwent conservative management including pain relief, oxygen therapy, and closed thoracostomy, and (2) Group II, surgical intervention. Recurrence rates were compared according to age, gender, and type of treatment. Surgical intervention was performed in 25.6% patients as first treatment. The overall recurrence rate was 20.3%. Male patients showed a higher 5-year recurrence rate than female (20.8% vs. 10.9%, p < 0.001). Those with conservative management showed lower 5-year recurrence rates than those with surgical treatment (7.9% vs. 23.7%, p < 0.001). The 5-year recurrence rates of patients aged 14≤, and < 20 was higher than other age groups (29.2% vs. 4.5 and 11.9%, p < 0.001). Surgical intervention, male gender and aged under 20 showed association with higher recurrence rates.


Subject(s)
Pneumothorax , Humans , Female , Male , Pneumothorax/epidemiology , Pneumothorax/surgery , Pain Management , Conservative Treatment , Oxygen Inhalation Therapy , Asian People
3.
J Korean Med Sci ; 38(26): e196, 2023 Jul 03.
Article in English | MEDLINE | ID: mdl-37401493

ABSTRACT

BACKGROUND: While the association of congenital heart disease (CHD) and growth retardation (GR) is known, data remain limited. This study investigated the incidence of GR and its neonatal risk factors in patients with CHD using nationwide population-based claims data. METHOD: The study population was extracted from Korean National Health Insurance Service claims data from January 2002 to December 2020. We included patients diagnosed with CHD under one year of age. GR was defined as an idiopathic growth hormone deficiency or short stature on the claims data. We investigated the neonatal risk factors for GR. RESULTS: The number of patients diagnosed with CHD within the first year of birth was 133,739. Of these, 2,921 newborns were diagnosed with GR. The cumulative incidence of GR was 4.8% at 19 years of age for individuals diagnosed with CHD at infancy. In the multivariable analysis, the significant risk factors for GR were preterm birth, small for gestational age, low birth weight, respiratory distress, bronchopulmonary dysplasia, bacterial sepsis, necrotizing enterocolitis, feeding problems and cardiac procedure. CONCLUSION: Several neonatal conditions were significant risk factors for GR in CHD patients, and appropriate monitoring and treatment programs are required in CHD neonates with these factors. Considering this study is limited to claims data, further studies are warranted, including genetic and environmental factors affecting GR in CHD patients.


Subject(s)
Heart Defects, Congenital , Infant, Newborn, Diseases , Premature Birth , Female , Infant, Newborn , Humans , Infant , Infant, Low Birth Weight , Fetal Growth Retardation/epidemiology , Heart Defects, Congenital/complications , Heart Defects, Congenital/epidemiology , Risk Factors , Retrospective Studies
4.
J Korean Med Sci ; 38(13): e96, 2023 Apr 03.
Article in English | MEDLINE | ID: mdl-37012684

ABSTRACT

In mid-2022, as the wave of pediatric coronavirus disease 2019 (COVID-19) cases escalated in South Korea, a public-private partnership was made to establish a Pediatric COVID-19 Module Clinic (PMC). We describe the utilization of the first prototype children's modular clinic in Korea University Anam Hospital functioning as the COVID-19 PMC. Between August 1 and September 30, 2022, a total of 766 children visited COVID-19 PMC. Daily number of patient visits to the COVID-19 PMC ranged between 10 and 47 in August; and less than 13 patients per day in September 2022. Not only the model provided timely care for the COVID-19 pediatric patients, but it also enabled safe and efficacious care for the non-COVID-19 patients in the main hospital building while minimizing exposure risk to severe acute respiratory syndrome coronavirus 2 transmission. Current description highlights the importance of spatial measures for mitigating in-hospital transmission of COVID-19, in specifically on pediatric care.


Subject(s)
COVID-19 , Child , Humans , Pandemics , SARS-CoV-2 , Ambulatory Care Facilities , Hospitals
5.
Cancer Res Treat ; 55(1): 279-290, 2023 Jan.
Article in English | MEDLINE | ID: mdl-35952715

ABSTRACT

PURPOSE: Renal tumors account for approximately 7% of all childhood cancers. These include Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), renal cell carcinoma (RCC), congenital mesoblastic nephroma (CMN) and other rare tumors. We investigated the epidemiology of pediatric renal tumors in Korea. MATERIALS AND METHODS: From January 2001 to December 2015, data of pediatric patients (0-18 years) newly-diagnosed with renal tumors at 26 hospitals were retrospectively analyzed. RESULTS: Among 439 patients (male, 240), the most common tumor was WT (n=342, 77.9%), followed by RCC (n=36, 8.2%), CCSK (n=24, 5.5%), MRTK (n=16, 3.6%), CMN (n=12, 2.7%), and others (n=9, 2.1%). Median age at diagnosis was 27.1 months (range 0-225.5) and median follow-up duration was 88.5 months (range 0-211.6). Overall, 32 patients died, of whom 17, 11, 1, and 3 died of relapse, progressive disease, second malignant neoplasm, and treatment-related mortality. Five-year overall survival and event free survival were 97.2% and 84.8% in WT, 90.6% and 82.1% in RCC, 81.1% and 63.6% in CCSK, 60.3% and 56.2% in MRTK, and 100% and 91.7% in CMN, respectively (p < 0.001). CONCLUSION: The pediatric renal tumor types in Korea are similar to those previously reported in other countries. WT accounted for a large proportion and survival was excellent. Non-Wilms renal tumors included a variety of tumors and showed inferior outcome, especially MRTK. Further efforts are necessary to optimize the treatment and analyze the genetic characteristics of pediatric renal tumors in Korea.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Nephroma, Mesoblastic , Rhabdoid Tumor , Sarcoma , Wilms Tumor , Child , Humans , Male , Carcinoma, Renal Cell/epidemiology , Retrospective Studies , Neoplasm Recurrence, Local , Kidney Neoplasms/therapy , Kidney Neoplasms/drug therapy , Nephroma, Mesoblastic/congenital , Nephroma, Mesoblastic/metabolism , Nephroma, Mesoblastic/pathology , Rhabdoid Tumor/pathology , Republic of Korea/epidemiology
6.
Sensors (Basel) ; 22(11)2022 Jun 04.
Article in English | MEDLINE | ID: mdl-35684905

ABSTRACT

This paper presents a pseudo-static gain cell (PS-GC) with extended retention time for an embedded dynamic random-access memory (eDRAM) macro for analog processing-in-memory (PIM). The proposed eDRAM cell consists of a two-transistor (2T) gain cell with a pseudo-static leakage compensation that maintains stored data without charge loss issue. Hence, the PS-GC can offer unlimited retention time in the same manner as static RAM (SRAM). Due to the extended retention time, bulky capacitors in conventional eDRAM are no longer needed, thereby, improving the area efficiency of eDRAM-based analog PIMs. The active leakage compensation of the PS-GC can effectively hold stored data even in a deep-submicron process that show significant leakage current. Therefore, the PS-GC can accelerate write-access time and read-access time without concern of increased leakage current. The proposed gain cell and its 64 × 64 eDRAM macro were implemented in a 28 nm CMOS process. The bitcell of the proposed gain cell has 0.79- and 0.58-times the area of those of 6T SRAM and 8T STAM, respectively. The post-layout simulation results demonstrate that the eDRAM maintains the pseudo-static operation with unlimited retention time successfully under wide range variations of process, voltage and temperature. At the operating frequency of 667 MHz, the eDRAM macro achieved an operating voltage range from 0.9 to 1.2 V and operating temperature range from -25 to 85 °C regardless of the process variation. The post-layout simulated write-access time and read-access time were below 0.3 ns at an operating temperature of 85 °C. The PS-GC consumes a static power of 2.2 nW/bit at an operating temperature of 25 °C.

7.
J Int Med Res ; 50(1): 3000605221075223, 2022 Jan.
Article in English | MEDLINE | ID: mdl-35086376

ABSTRACT

OBJECTIVE: Children with acute lymphoblastic leukemia (ALL) may be at increased risk of psychiatric disorders. This study analyzed the incidence of psychiatric disorders in children with ALL in South Korea. METHODS: Using nationwide claims data for January 2009 to March 2016, we identified three major psychiatric disorders (depression, anxiety and stress/adjustment disorder) among children diagnosed with ALL. We analyzed the incidence of psychiatric disorders before and after ALL diagnosis. RESULTS: Overall, 2160 children diagnosed with ALL were identified. Seventy-five children (3.5%) were diagnosed with at least one major psychiatric disorder from 1 year before ALL diagnosis to the last follow-up point (range: 42.5-111.5 months). Of these, 70 (93.3%) patients were identified after ALL diagnosis, with the incidence peaking 1 year after ALL diagnosis. Depression, anxiety and stress/adjustment disorders were diagnosed in 30 (1.4%), 15 (0.7%) and 30 (1.4%) patients, respectively. CONCLUSIONS: Among pediatric patients with ALL, most psychiatric disorders were identified after the diagnosis of leukemia, and psychiatric disorder incidence differed according to patient age and time since ALL diagnosis. Timely screening for and proper management of mental disorders are needed during all stages of ALL treatment.


Subject(s)
Anxiety Disorders , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Adjustment Disorders/diagnosis , Adjustment Disorders/epidemiology , Child , Humans , Longitudinal Studies , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology , Republic of Korea/epidemiology
9.
J Korean Med Sci ; 35(46): e393, 2020 Nov 30.
Article in English | MEDLINE | ID: mdl-33258329

ABSTRACT

BACKGROUND: Hodgkin's lymphoma (HL) constitutes 10%-20% of all malignant lymphomas and has a high cure rate (5-year survival, around 90%). Recently, interest has increased concerning preventing secondary complications (secondary cancer, endocrine disorders) in long-term survivors. We aimed to study the epidemiologic features and therapeutic outcomes of HL in children, adolescents, and young adults in Korea. METHODS: We performed a multicenter, retrospective study of 224 patients aged < 25 years diagnosed with HL at 22 participating institutes in Korea from January 2007 to August 2016. RESULTS: A higher percentage of males was diagnosed at a younger age. Nodular sclerosis histopathological HL subtype was most common, followed by mixed cellularity subtype. Eighty-one (36.2%), 101 (45.1%), and 42 (18.8%) patients were classified into low, intermediate, and high-risk groups, respectively. Doxorubicin, bleomycin, vinblastine, dacarbazine was the most common protocol (n = 102, 45.5%). Event-free survival rate was 86.0% ± 2.4%, while five-year overall survival (OS) rate was 96.1% ± 1.4%: 98.7% ± 1.3%, 97.7% ± 1.6%, and 86.5% ± 5.6% in the low, intermediate, and high-risk groups, respectively (P = 0.021). Five-year OS was worse in patients with B-symptoms, stage IV disease, high-risk, splenic involvement, extra-nodal lymphoma, and elevated lactate dehydrogenase level. In multivariate analysis, B-symptoms and extra-nodal involvement were prognostic factors for poor OS. Late complications of endocrine disorders and secondary malignancy were observed in 17 and 6 patients, respectively. CONCLUSION: This is the first study on the epidemiology and treatment outcomes of HL in children, adolescents, and young adults in Korea. Future prospective studies are indicated to develop therapies that minimize treatment toxicity while maximizing cure rates in children, adolescents, and young adults with HL.


Subject(s)
Antineoplastic Agents/therapeutic use , Hodgkin Disease/drug therapy , Adolescent , Antineoplastic Agents/adverse effects , Bleomycin/adverse effects , Bleomycin/therapeutic use , Child , Child, Preschool , Doxorubicin/adverse effects , Doxorubicin/therapeutic use , Endocrine System Diseases/etiology , Female , Hematopoietic Stem Cell Transplantation , Hodgkin Disease/mortality , Hodgkin Disease/pathology , Humans , Infant , Infant, Newborn , Male , Republic of Korea , Retrospective Studies , Survival Rate , Treatment Outcome , Vinblastine/adverse effects , Vinblastine/therapeutic use , Young Adult
10.
J Korean Med Sci ; 35(33): e279, 2020 Aug 24.
Article in English | MEDLINE | ID: mdl-32830468

ABSTRACT

BACKGROUND: Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA. METHODS: We collected the data of a newly diagnosed pediatric HHA cohort (2007-2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997-2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey. RESULTS: A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia. CONCLUSION: In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.


Subject(s)
Anemia, Hemolytic, Congenital/epidemiology , Adolescent , Anemia, Hemolytic, Congenital/diagnosis , Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis , Anemia, Hemolytic, Congenital Nonspherocytic/epidemiology , Child , Child, Preschool , Female , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glucosephosphate Dehydrogenase Deficiency/epidemiology , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobins/genetics , Hospitals , Humans , Infant , Infant, Newborn , Male , Polymorphism, Genetic , Pyruvate Kinase/deficiency , Pyruvate Metabolism, Inborn Errors/diagnosis , Pyruvate Metabolism, Inborn Errors/epidemiology , Republic of Korea/epidemiology , Retrospective Studies , Surveys and Questionnaires
11.
In Vivo ; 34(2): 929-933, 2020.
Article in English | MEDLINE | ID: mdl-32111806

ABSTRACT

BACKGROUND/AIM: We quantified the incidence, and identified risk factors for influenza infection among childhood cancer survivors in South Korea, an at-risk population. PATIENTS AND METHODS: Nationwide health insurance claims data were used to assess the frequency of influenza among childhood cancer survivors (aged <20 years) diagnosed between January 2009 and April 2016. A multivariable logistic regression was constructed to identify risk factors for influenza. RESULTS: Of 6,457 children cancer survivors, 1,704 (27.0%) were diagnosed with influenza. Influenza was common in children <5 years old and infections were highest between late October and April. Over 60% of influenza treatment claims came from private clinics. Risk factors for influenza included age <9 years. CONCLUSION: Childhood cancer survivors are particularly at-risk for influenza infection during the traditional influenza season. Identifying risks for influenza infection will help to establish countermeasures for reducing the influenza infections in at-risk cancer surviving children.


Subject(s)
Cancer Survivors , Influenza, Human/epidemiology , Adolescent , Child , Child, Preschool , Female , Humans , Incidence , Infant , Male , Odds Ratio , Public Health Surveillance , Republic of Korea/epidemiology , Retrospective Studies , Risk Factors , Seasons
12.
IEEE Access ; 8: 171325-171333, 2020.
Article in English | MEDLINE | ID: mdl-34786290

ABSTRACT

There has been vigorous debate on how different countries responded to the COVID-19 pandemic. To secure public safety, South Korea actively used personal information at the risk of personal privacy whereas France encouraged voluntary cooperation at the risk of public safety. In this article, after a brief comparison of contextual differences with France, we focus on South Korea's approaches to epidemiological investigations. To evaluate the issues pertaining to personal privacy and public health, we examine the usage patterns of original data, de-identification data, and encrypted data. Our specific proposal discusses the COVID index, which considers collective infection, outbreak intensity, availability of medical infrastructure, and the death rate. Finally, we summarize the findings and lessons for future research and the policy implications.

13.
Cancer Res Treat ; 52(2): 438-445, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31505910

ABSTRACT

PURPOSE: Loss of heterozygosity (LOH) at chromosomes 1p and 16q is a poor prognostic factor in favorable histology Wilms tumor (FHWT). This study investigated the prevalence of LOH at 1p and 16q and evaluated its prognostic value in Korean children with FHWT. MATERIALS AND METHODS: We analyzed 101 FHWT patients who were diagnosed between 1996 and 2016 in Korean Society of Pediatric Hematology Oncology Group hospitals. Using paraffin-embedded kidney tissue samples sent from each center, we reviewed LOH at 1p and 16q in each patient and assessed the prognostic value of LOH status for clinical parameters affecting event-free survival (EFS). RESULTS: Of the 101 patients, 12 (11.9%) experienced recurrence; the 3-year EFS was 87.6%. LOH at 1p or 16q was detected in 19 patients (18.8%), with five having LOH at both 1q and 16q. The frequency of LOH at 1p was higher among younger patients (p=0.049), but there was no difference in LOH prevalence according to tumor stage. In the multivariate analysis, LOH at 16q was a significant negative prognostic factor affecting EFS (3-year EFS, 73.7% vs. 91.1%; hazard ratio, 3.95; p=0.037), whereas LOH at 1p was not (p=0.786). CONCLUSION: LOH at 16q was a significant negative prognostic factor affecting outcome in Korean pediatric FHWT patients. Due to the small sample size of this study, large-scale multicenter trials are warranted to investigate the prognostic value of LOH at 1p and 16q in Korean children with FHWT.


Subject(s)
Chromosomes, Human, Pair 16/genetics , Wilms Tumor/genetics , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Loss of Heterozygosity , Male , Prognosis , Republic of Korea , Survival Analysis , Wilms Tumor/metabolism , Wilms Tumor/mortality
14.
Anticancer Res ; 39(11): 6165-6173, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31704844

ABSTRACT

AIM: To improve survival in patients with glucocorticoid-resistant T-cell acute lymphoblastic leukemia (T-ALL), it is critical to develop new therapeutic strategies to overcome steroid resistance. MATERIALS AND METHODS: Biochemical and molecular methodologies were used to evaluate whether tissue transglutaminase (TG2) confers steroid resistance in T-ALL. RESULTS: T-ALL cells were found to express elevated levels of TG2. Models of steroid-adapted subclones of T-ALL cell lines which were notably less sensitive to steroids than the parental cells. The steroid-adapted subclones showed increased TG2 expression and nuclear factor-κB (NF-κB) activity compared to T-ALL parental cells. Inhibition of TG2 suppressed steroid resistance and improved steroid cytotoxicity in steroid-adapted subclones of T-ALL in association with reduced NF-κB activity. CONCLUSION: TG2 may serve as a new target to overcome steroid resistance in T-ALL.


Subject(s)
Anti-Inflammatory Agents/pharmacology , Apoptosis/drug effects , Cell Proliferation/drug effects , Drug Resistance, Neoplasm/drug effects , GTP-Binding Proteins/metabolism , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/pathology , Prednisolone/pharmacology , Transglutaminases/metabolism , Cell Differentiation , GTP-Binding Proteins/antagonists & inhibitors , Humans , NF-kappa B/metabolism , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/enzymology , Protein Glutamine gamma Glutamyltransferase 2 , Signal Transduction , Transglutaminases/antagonists & inhibitors , Tumor Cells, Cultured
15.
In Vivo ; 33(6): 2287-2291, 2019.
Article in English | MEDLINE | ID: mdl-31662569

ABSTRACT

BACKGROUND/AIM: This longitudinal study aimed to analyze the prevalence of endocrine disorders in childhood brain tumor survivors in South Korea using claims data. PATIENTS AND METHODS: We identified in 1,058 patients from a nationwide cohort of patients diagnosed with brain tumors between January 1st 2009 to March 29th 2016. Multivariable logistic regression was used to evaluate associations between clinical factors and endocrine disorders. RESULTS: After a median follow-up of 60.0 months, 393 (37.1%) patients had at least 1 endocrine disorder. The commonest endocrine disorders were hypopituitarism (17.4%) and hypothyroidism (6.1%). Female gender (odds ratio(OR)=1.45, p=0.005) and age <10 years (OR=1.65, p=0.001) conferred a higher risk. Patients who received radiotherapy were more likely to have endocrine disorders compared to those who did not (OR=1.79, p<0.001). CONCLUSION: Regular assessment of endocrine function and timely interventions are necessary for childhood brain tumor survivors with a risk of endocrine disorders.


Subject(s)
Brain Neoplasms/complications , Brain Neoplasms/epidemiology , Cancer Survivors , Endocrine System Diseases/epidemiology , Endocrine System Diseases/etiology , Adolescent , Child , Child, Preschool , Disease Management , Endocrine System Diseases/diagnosis , Endocrine System Diseases/therapy , Female , Humans , Infant , Infant, Newborn , Male , Population Surveillance , Prevalence , Republic of Korea/epidemiology
16.
Yeungnam Univ J Med ; 36(2): 148-151, 2019 05.
Article in English | MEDLINE | ID: mdl-31620627

ABSTRACT

The dose of CD34+ cells is known to influence the outcome of allogeneic peripheral blood stem cell (PBSC) and/or T-cell-depleted transplantation. A previous study proposed that 2×106 CD34+ cells/kg is the ideal minimum dose for allogeneic transplantation, although lower doses did not preclude successful therapy. In the case we present here, CD34+ cells were collected from a matched sibling donor on the day of allogeneic hematopoietic stem cell transplantation; however, the number of cells was not sufficient for transplantation. Consequently, PBSCs were collected three additional times and were infused along with cord blood cells from the donor that were cryopreserved at birth. The cumulative dose of total nuclear cells and CD34+ cells was 15.9×108 cells/kg and 0.95×106 cells/kg, respectively. White blood cells from this patient were engrafted on day 12. In summary, we report successful engraftment after infusion of multiple low doses of CD34+ cells in a patient with severe aplastic anemia.

17.
Orphanet J Rare Dis ; 14(1): 114, 2019 05 23.
Article in English | MEDLINE | ID: mdl-31122244

ABSTRACT

BACKGROUND: Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic variation associated with HS among patients clinically diagnosed with HS. METHODS: Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform. RESULTS: Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane protein-encoding genes. A total of 54 significant variants including 46 novel mutations were detected in six RBC membrane protein-encoding genes, with the highest number of variants found in SPTB (n = 28), and followed by ANK1 (n = 19), SLC4A1 (n = 3), SPTA1 (n = 2), EPB41 (n = 1), and EPB42 (n = 1). Concurrent mutations of genes encoding RBC enzymes (ALDOB, GAPDH, and GSR) were detected in three patients. UGT1A1 mutations were present in 24 patients (40.7%). Positive rate of osmotic fragility test was 86.8% among patients harboring HS-related gene mutations. CONCLUSIONS: This constitutes the first large-scaled genetic study of Korean patients with HS. We demonstrated that multi-gene target sequencing is sensitive and feasible that can be used as a powerful tool for diagnosing HS. Considering the discrepancies of clinical and molecular diagnoses of HS, our findings suggest that molecular genetic analysis is required for accurate diagnosis of HS.


Subject(s)
Osmotic Fragility/physiology , Spherocytes/metabolism , Spherocytosis, Hereditary/metabolism , Adolescent , Adult , Aged , Aged, 80 and over , Anion Exchange Protein 1, Erythrocyte/genetics , Anion Exchange Protein 1, Erythrocyte/metabolism , Ankyrins/genetics , Ankyrins/metabolism , Carrier Proteins/genetics , Carrier Proteins/metabolism , Child , Child, Preschool , Cytoskeletal Proteins/genetics , Cytoskeletal Proteins/metabolism , Female , Glucuronosyltransferase/genetics , Glucuronosyltransferase/metabolism , Humans , Infant , Male , Membrane Proteins/genetics , Membrane Proteins/metabolism , Microfilament Proteins/genetics , Microfilament Proteins/metabolism , Middle Aged , Mutation/genetics , Osmotic Fragility/genetics , Pathology, Molecular , Republic of Korea , Spectrin/genetics , Spectrin/metabolism , Spherocytosis, Hereditary/genetics , Young Adult
18.
Ann Pediatr Endocrinol Metab ; 23(2): 99-102, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29969882

ABSTRACT

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disease characterized by fever and lymphadenopathy. The etiology of KFD is unknown, but an autoimmune cause has been suggested. Hashimoto thyroiditis is the most common autoimmune thyroid disorder in children and is known to be associated with other autoimmune diseases. Only a few cases of Hashimoto thyroiditis associated with KFD have been documented. We report a case of a 16-year-old girl who was first diagnosed with KFD and developed Hashimoto thyroiditis 2 years and 6 months later during her follow-up period. Physicians of patients with KFD should consider the possibility of autoimmune diseases like Hashimoto's thyroiditis.

19.
Mol Med Rep ; 18(2): 1842-1848, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29901104

ABSTRACT

Mesenchymal stem cells (MSCs), derived from either bone marrow (BM) or Wharton's jelly (WJ), inhibit the proliferation of activated T cells, and interferon (IFN)­Î³ serves an important role in this process. This process is B7­homolog (H)1­dependent during cell contact inhibition. However, the signaling pathway involved in B7­H1 expression in MSCs remains largely undefined. The present study demonstrated activation of B7­H1 by engaging signal transducer and activator of transcription (STAT)­1 signaling in MSCs. Human BM­ and WJ­MSCs were isolated and cultured. The immunosuppressive effect of BM­ and WJ­MSCs on phytohemagglutinin (PHA)­induced T cell proliferation was compared using direct and indirect co­culture systems. B7­H1 expression on BM­ and WJ­MSCs was detected by flow cytometry. Small interfering (si)RNA was used to knock down the expression of STAT­1. The inhibitory effect of MSCs on T lymphocytes was observed using PHA­induced T cell proliferation assays. IFN­Î³­induced B7­H1 expression on human BM­ and WJ­MSCs increased in a time­dependent manner. Furthermore, the inhibitory effect of MSCs on T cell proliferation was be restored when an anti­B7­H1 monoclonal antibody was used. When STAT­1 signaling was inhibited by siRNA, B7­H1 expression on IFN­Î³­treated MSCs decreased and T cell proliferation was restored; however, the expression of B7­H1 did not alter upon treatment with a phosphatidylinositol­3­kinase (PI3K) inhibitor (LY294002). These results demonstrated that the IFN­Î³­induced immunosuppressive properties of B7­H1 in human BM­ and WJ­MSCs were mediated by STAT­1 signaling, and not by PI3K/RAC­α serine/threonine­protein kinase signaling. Understanding the intracellular mechanisms underlying IFN­Î³­induced expression of B7­H1 in MSCs may ultimately lead to an improved understanding of MSCs and provide insight into their use as cell therapy agents.


Subject(s)
B7-H1 Antigen/genetics , Cell Proliferation/genetics , Mesenchymal Stem Cells/immunology , STAT1 Transcription Factor/genetics , Adipose Tissue/cytology , Adipose Tissue/immunology , B7-H1 Antigen/immunology , Bone Marrow Cells/immunology , Coculture Techniques , Humans , Lymphocyte Activation , Phosphatidylinositol 3-Kinases/genetics , Proto-Oncogene Proteins c-akt/genetics , STAT1 Transcription Factor/immunology , Signal Transduction , T-Lymphocytes
20.
Ann Rehabil Med ; 42(1): 189-194, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29560341

ABSTRACT

While congenital muscular torticollis (CMT) can occur along with other conditions, such as clavicle fracture or brachial plexus injury, these conditions exist outside the sternocleidomastoid muscle (SCM). We present a rare case with concurrence of CMT and a malignant tumor inside the same SCM, along with serial clinical and radiological findings of the atypical features of CMT. The malignant tumor was in fact a low-grade fibromyxoid sarcoma. To the best of our knowledge, the current case is the first of a concurrent condition of CMT inside the SCM. This case suggests that concurrent conditions could exist either inside or outside the SCM with CMT. Therefore, a thorough evaluation of SCM is required when subjects with CMT display atypical features, such as the increase of mass or poor response to conservative therapy. In that case, appropriate imaging modalities, such as ultrasonogram or magnetic resonance imaging, are useful for differential diagnosis.

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