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1.
Annals of Pediatric Endocrinology & Metabolism ; : 149-154, 2023.
Article in English | WPRIM | ID: wpr-999359

ABSTRACT

Maturity-onset diabetes of the young (MODY) is a rare, autosomal dominant disease characterized by non-ketogenic diabetes mellitus (DM). MODY type 4, caused by PDX1 mutation, is a very rare subtype of MODY, especially in Korea. We report a case of a 10-year-old, nonobese girl with a family history of type 2 DM. After diagnosis, the patient’s serum glucose level was well controlled using metformin monotherapy; however, the glycated hemoglobin level increased to 9.0% approximately 2 years after treatment. No obesity or lifestyle problems were observed, and serum fasting C-peptide level was within the normal range. Furthermore, no islet-related autoantibodies were detected. A genetic screening for MODY using a next-generation sequencing panel was performed, and a likely heterozygous pathogenic PDX1 mutation (p.Gly246ArgfsTer21) was identified. The PDX1 variant was not detected in her mother, implying that the mutation had arisen de novo in the proband. She was prescribed insulin degludec in addition to metformin therapy, which improved her hyperglycemia. This report presents a novel MODY type 4 phenotype and highlights the importance of genetic screening in patients with MODY characteristics.

2.
Annals of Laboratory Medicine ; : 207-213, 2021.
Article in English | WPRIM | ID: wpr-874173

ABSTRACT

Background@#Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome. HLRCC is characterized by the development of cutaneous leiomyomas, early-onset uterine leiomyomas, and HLRCC-associated renal cell cancer (RCC) and caused by germline fumarate hydratase (FH) deficiency. We investigated the genotypic and phenotypic characteristics of Korean patients with HLRCC. @*Methods@#We performed direct sequencing analysis of FH in 13 patients with suspected HLRCC and their family members. A chromosomal microarray test was performed in female patients with negative sequencing results but highly suspected HLRCC. In addition, we analyzed the clinical characteristics and evaluated the genotype–phenotype correlations in Korean patients with HLRCC. @*Results@#We identified six different pathogenic or likely pathogenic FH variants in six of the 13 patients (46.2%). The variants included two nonsense variants, two splicing variants, one frameshift variant, and one missense variant. Of the six variants, two (33.3%) were novel (c.132+1G > C, and c.243dup). RCC and early-onset uterine leiomyoma were frequently observed in families with HLRCC, while cutaneous leiomyoma was less common. No significant genotype–phenotype correlation was observed. @*Conclusions@#We describe the genotypic and phenotypic spectrum in a small series of Korean patients with HLRCC. Our data reveal the unique characteristics of Korean patients with HLRCC and suggest a need for establishing an optimal diagnostic approach for them.

3.
Annals of Laboratory Medicine ; : 7-14, 2020.
Article in English | WPRIM | ID: wpr-762461

ABSTRACT

BACKGROUND: Rapid and accurate diagnosis of acute myocardial infarction (AMI) is critical for initiating effective treatment and achieving better prognosis. We investigated the performance of copeptin for early diagnosis of AMI, in comparison with creatine kinase myocardial band (CK-MB) and troponin I (TnI). METHODS: We prospectively enrolled 271 patients presenting with chest pain (within six hours of onset), suggestive of acute coronary syndrome, at an emergency department (ED). Serum CK-MB, TnI, and copeptin levels were measured. The diagnostic performance of CK-MB, TnI, and copeptin, alone and in combination, for AMI was assessed by ROC curve analysis by comparing the area under the curve (AUC). Sensitivity, specificity, negative predictive value, and positive predictive value of each marker were obtained, and the characteristics of each marker were analyzed. RESULTS: The patients were diagnosed as having ST elevation myocardial infarction (STEMI; N=43), non-ST elevation myocardial infarction (NSTEMI; N=25), unstable angina (N=78), or other diseases (N=125). AUC comparisons showed copeptin had significantly better diagnostic performance than TnI in patients with chest pain within two hours of onset (AMI: P=0.022, ≤1 hour; STEMI: P=0.017, ≤1 hour and P=0.010, ≤2 hours). In addition, TnI and copeptin in combination exhibited significantly better diagnostic performance than CK-MB plus TnI in AMI and STEMI patients. CONCLUSIONS: The combination of TnI and copeptin improves AMI diagnostic performance in patients with early-onset chest pain in an ED setting.


Subject(s)
Humans , Acute Coronary Syndrome , Angina, Unstable , Area Under Curve , Chest Pain , Creatine Kinase , Diagnosis , Early Diagnosis , Emergencies , Emergency Service, Hospital , Myocardial Infarction , Prognosis , Prospective Studies , ROC Curve , Sensitivity and Specificity , Troponin I
4.
Korean Journal of Blood Transfusion ; : 159-164, 2020.
Article | WPRIM | ID: wpr-836488

ABSTRACT

In some cases, hematopoietic stem cell transplants (HSCT) show differences in the D antigen. In previous studies, there have been few cases of de novo anti-D alloimmunization, and even rarer cases of serious side effects or the outcomes. De novo anti-D alloimmunization has been reported to occur more frequently in minor D mismatch than in major D mismatch. For the RhD type of blood components, RhD-negative type is recommended in transfusion in RhD mismatch HSCT without anti-D in donors and recipients. But in situations of insufficient RhD-negative blood supply, this study suggests that the RhD type of blood components depends on the patients’ RhD type before transplantation, and it depends on the donors’ RhD type after transplantation, and an RhD-positive platelet transfusion may be available.

5.
Cancer Research and Treatment ; : 1549-1556, 2019.
Article in English | WPRIM | ID: wpr-763206

ABSTRACT

PURPOSE: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic syndrome resulting from germline mutations in fumarate hydratase. The combination of bevacizumab plus erlotinib showed promising interim results for HLRCC-associated RCC. Based on these results, we analyzed the outcome of bevacizumab plus erlotinib in Korean patients with HLRCC-associated RCC. MATERIALS AND METHODS: We retrospectively reviewed the efficacy and safety of bevacizumab plus erlotinib in patients with HLRCC-associated RCC who were confirmed to have germline mutations in fumarate hydratase. The primary endpoint was the objective response rate (ORR), while the secondary endpoints were progression-free survival (PFS) and overall survival (OS). RESULT: We identified 10 patients with advanced HLRCC-associated RCC who received bevacizumab plus erlotinib. Median age at diagnosis was 41 years, and five of the patients had received the combination as first- or second-line treatments. The ORR was 50% and the median PFS and OS were 13.3 and 14.1 months, respectively. Most adverse events were predictable and manageable by conventional measures, except for one instance where a patient died of gastrointestinal bleeding. CONCLUSION: This is the first real-world outcome of the treatment of advanced HLRCC-associated RCC. Bevacizumab plus erlotinib therapy showed promising activity with moderate toxicity. We should be increasingly aware of HLRCC-associated RCC and bevacizumab plus erlotinib should be a first-line treatment for this condition, unless other promising data are published.


Subject(s)
Humans , Bevacizumab , Carcinoma, Renal Cell , Diagnosis , Disease-Free Survival , Erlotinib Hydrochloride , Fumarate Hydratase , Germ-Line Mutation , Hemorrhage , Leiomyomatosis , Retrospective Studies
6.
Journal of Clinical Neurology ; : 267-267, 2019.
Article in English | WPRIM | ID: wpr-738856

ABSTRACT

No abstract available.


Subject(s)
Spastic Paraplegia, Hereditary
7.
Journal of Clinical Neurology ; : 120-121, 2019.
Article in English | WPRIM | ID: wpr-719385

ABSTRACT

No abstract available.


Subject(s)
Humans , Spastic Paraplegia, Hereditary
8.
Annals of Laboratory Medicine ; : 484-486, 2018.
Article in English | WPRIM | ID: wpr-717049

ABSTRACT

No abstract available.


Subject(s)
Hemostasis
10.
Laboratory Medicine Online ; : 34-36, 2017.
Article in English | WPRIM | ID: wpr-100534

ABSTRACT

Cases of pediatric eosinophilic meningitis following duraplasty with a bovine graft have been reported. These patients recovered following the surgical removal of the dural graft or steroid therapy. Decompression for Chiari malformation is a common procedure in both pediatric and adult neurosurgery. We describe the case of a 33-yr-old male patient with eosinophilic meningitis following Chiari decompression via bovine graft duraplasty. Cerebrospinal fluid (CSF) study showed 49 red blood cells/μL and 129 leukocytes/μL with 17% eosinophils. There was no evidence of infectious disease. To our knowledge, this is the first report of adult eosinophilic meningitis after bovine graft duraplasty in Korea.


Subject(s)
Adult , Humans , Male , Arnold-Chiari Malformation , Cerebrospinal Fluid , Communicable Diseases , Decompression , Eosinophils , Korea , Meningitis , Neurosurgery , Transplants
11.
Annals of Clinical Microbiology ; : 35-41, 2017.
Article in Korean | WPRIM | ID: wpr-153459

ABSTRACT

BACKGROUND: Cumulative blood culture data provide clinicians with important information in the selection of empiric therapy for blood stream infections. METHODS: We retrospectively analyzed blood culture data from a university hospital during the period from 2006 to 2015. Only the initial isolates of a given species for each patient were included. RESULTS: The number of blood cultures per 1,000 inpatient-days increased from 64 in 2006 to 117 in 2015. The ratio of significant pathogens to total isolates was 0.56-0.63. The most common organisms were Escherichia coli in 2006-2010 but changed to coagulase-negative staphylococci (CoNS) in 2011. The proportion of Staphylococci aureus was decreased during the study period, but Klebsiella pneumoniae was increased. Enterococci were increased, especially E. faecium, which was more frequently isolated than E. faecalis in 2015. Pseudomonas aeruginosa was decreased during the study, but Acinetobacter baumannii was increased. The prevalence of methicillin-resistant S. aureus (MRSA) changed from 62.2% to 53.9%, while vancomycin-resistant E. faecium increased to 35.8%. Extended-spectrum beta-lactamase (ESBL)-producing E. coli and K. pneumoniae increased to 25% and 34%, respectively, in 2015. Starting in 2008, three E. coli and 11 K. pneumoniae isolates were carbapenem-resistant Enterobacteriaceae (CRE), and three were carbapenemase-producing Enterobacteriaceae (CPE). The prevalence of imipenem-resistant A. baumannii rapidly increased during the study period. CONCLUSION: About 60% of all blood isolates were significant pathogens. The most common isolates changed from E. coli to CoNS in 2011. ESBL-producing E. coli and K. pneumoniae, vancomycin-resistant E. faecium, and imipenem-resistant A. baumannii were increased during the study, while the proportion of MRSA tended to decrease slightly. Of the total isolates, 14 were CRE, and 3 were CPE.


Subject(s)
Humans , Acinetobacter baumannii , Bacteremia , beta-Lactamases , Enterobacteriaceae , Escherichia coli , Klebsiella pneumoniae , Methicillin Resistance , Methicillin-Resistant Staphylococcus aureus , Pneumonia , Prevalence , Pseudomonas aeruginosa , Retrospective Studies , Rivers
13.
Annals of Laboratory Medicine ; : 291-299, 2016.
Article in English | WPRIM | ID: wpr-48343

ABSTRACT

BACKGROUND: Mutations in calreticulin (CALR) have been reported to be key markers in the molecular diagnosis of myeloid proliferative neoplasms. In most previous reports, CALR mutations were analyzed by using Sanger sequencing. Here, we report a new, rapid, and convenient system for screening CALR mutations without sequencing. METHODS: Eighty-three bone marrow samples were obtained from 81 patients with thrombocytosis. PCR primers were designed to detect wild-type CALR (product: 357 bp) and CALR with type 1 (product: 302 bp) and type 2 mutations (product: 272 bp) in one reaction. The results were confirmed by Sanger sequencing and compared with results from fragment analysis. RESULTS: The minimum detection limit of the screening PCR was 10 ng for type 1, 1 ng for type 2, and 0.1 ng for cases with both mutations. CALR type 1 and type 2 mutants were detected with screening PCR with a maximal analytical sensitivity of 3.2% and <0.8%, respectively. The screening PCR detected 94.1% (16/17) of mutation cases and showed concordant results with sequencing in the cases of type 1 and type 2 mutations. Sanger sequencing identified one novel mutation (c.1123_1132delinsTGC). Compared with sequencing, the screening PCR showed 94.1% sensitivity, 100.0% specificity, 100.0% positive predictive value, and 98.5% negative predictive value. Compared with fragment analysis, the screening PCR presented 88.9% sensitivity and 100.0% specificity. CONCLUSIONS: This screening PCR is a rapid, sensitive, and cost-effective method for the detection of major CALR mutations.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Base Sequence , Bone Marrow/metabolism , Calreticulin/chemistry , DNA Mutational Analysis , Follow-Up Studies , Genotype , Janus Kinase 2/chemistry , Mutation , Myeloproliferative Disorders/complications , Polymerase Chain Reaction , Thrombocytosis/complications
14.
Laboratory Medicine Online ; : 60-63, 2016.
Article in Korean | WPRIM | ID: wpr-173767

ABSTRACT

The number of massive transfusions for pediatric patients has risen owing to the increasing number of complex surgeries and trauma centers. However, as there are only a few studies on pediatric massive transfusion, adult massive transfusion protocols are used for pediatric patients in many hospitals and institutions. Although massive transfusion protocols would improve the outcomes and reduce the received blood products during transfusion, pediatric patients differ from adults in the tolerability to transfusion, incidence of coagulopathy, and mechanisms of injuries. Therefore clinical physicians have requested for a pediatric massive transfusion protocol. Herein, we reviewed pediatric massive transfusion protocols that have been used in various clinical settings. To date, only a few single-center studies with a small number of pediatric patients have been performed. Even though these studies did not show improvement in outcomes such as mortality and side effects, they reported a short preparation time for fresh frozen plasma products and a low coagulopathy rate in pediatric massive transfusion groups. Therefore, large, prospective, multicenter studies are needed to identify the empiric ratio of blood products for improving outcomes of pediatric patients who need massive transfusion.


Subject(s)
Adult , Humans , Incidence , Mortality , Plasma , Prospective Studies , Trauma Centers
15.
Annals of Laboratory Medicine ; : 420-426, 2016.
Article in English | WPRIM | ID: wpr-59854

ABSTRACT

BACKGROUND: Amino-terminal pro-B type natriuretic peptide (NT-proBNP) is a well-established prognostic factor in heart failure (HF). However, numerous causes may lead to elevations in NT-proBNP, and thus, an increased NT-proBNP level alone is not sufficient to predict outcome. The aim of this study was to evaluate the utility of two acute response markers, high sensitivity C-reactive protein (hsCRP) and heart-type fatty acid binding protein (H-FABP), in patients with an increased NT-proBNP level. METHODS: The 278 patients were classified into three groups by etiology: 1) acute coronary syndrome (ACS) (n=62), 2) non-ACS cardiac disease (n=156), and 3) infectious disease (n=60). Survival was determined on day 1, 7, 14, 21, 28, 60, 90, 120, and 150 after enrollment. RESULTS: H-FABP (P<0.001), NT-proBNP (P=0.006), hsCRP (P<0.001) levels, and survival (P<0.001) were significantly different in the three disease groups. Patients were divided into three classes by using receiver operating characteristic curves for NT-proBNP, H-FABP, and hsCRP. Patients with elevated NT-proBNP (≥3,856 pg/mL) and H-FABP (≥8.8 ng/mL) levels were associated with higher hazard ratio for mortality (5.15 in NT-proBNP and 3.25 in H-FABP). Area under the receiver operating characteristic curve analysis showed H-FABP was a better predictor of 60-day mortality than NT-proBNP. CONCLUSIONS: The combined measurement of H-FABP with NT-proBNP provides a highly reliable means of short-term mortality prediction for patients hospitalized for ACS, non-ACS cardiac disease, or infectious disease.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Acute Coronary Syndrome/blood , Area Under Curve , Biomarkers/blood , C-Reactive Protein/analysis , Fatty Acid-Binding Proteins/blood , Kaplan-Meier Estimate , Natriuretic Peptide, Brain/blood , Peptide Fragments/blood , Prognosis , Proportional Hazards Models , ROC Curve
16.
Journal of Laboratory Medicine and Quality Assurance ; : 29-36, 2015.
Article in Korean | WPRIM | ID: wpr-61453

ABSTRACT

BACKGROUND: Automated assays have recently been developed for efficient serological testing of syphilis infection. Here, we evaluate the performance of new automated serological assays for syphilis infection. METHODS: The precision, linearity, and detection limit of the automated kits AutoLab rapid plasma reagin (RPR) (IVD-RPR) and AutoLab (Treponema pallidum Latex Agglutination) TPLA (IVD-TPLA) (IVDLab Co., Korea) were evaluated using an immunoturbidimetric method. In addition, the results of these tests were compared with those obtained using the HiSens Auto RPR LTIA (HBi-RPR) and HiSens Auto TP LTIA (HBi-TPLA) tests (HBi Co., Korea) with 122 serum samples. RESULTS: Both the IVD-RPR and IVD-TPLA kits showed acceptable precision for the positive controls (IVDLab Co., Korea). The within-run and total precision of IVD-RPR were better than those of HBi-RPR at cut-off levels (CV, 7.0% to 7.4% for IVD-RPR; CV, 33.3% to 40.0% for HBi-RPR). The IVD-RPR and IVD-TPLA kits demonstrated acceptable linearity and limits of detection. The agreement rate between IVD-RPR and HBi-RPR was 83.60% (102/122). Nineteen samples were IVD-RPR negative but HBi-RPR positive; 12 of these were from patients with a history of syphilis. The agreement rate between IVD-TPLA and HBi-TPLA was 96.72% (118/122). All discrepant results were IVD-TPLA positive and HBi-TPLA negative. CONCLUSIONS: IVD-RPR and IVD-TPLA exhibited acceptable precision, linearity, and limits of detection for the diagnosis of syphilis infection. IVD-RPR was suitable for monitoring syphilis infections with good precision that was near cut-off levels. IVD-TPLA was useful for detecting primary syphilis infection.


Subject(s)
Humans , Agglutination , Diagnosis , Latex , Limit of Detection , Plasma , Serologic Tests , Syphilis , Treponema pallidum
17.
Korean Journal of Blood Transfusion ; : 54-59, 2015.
Article in Korean | WPRIM | ID: wpr-114282

ABSTRACT

BACKGROUND: The Di(a) antigen has been detected with a relatively higher incidence among Koreans with a frequency of 6.4 to 14.5%. In South Korea, commonly used unexpected antibody screening panels do not include Di(a) antigen positive cells. We screened patients who previously received multiple packed red cell transfusion using two cells without Di(a) antigen and three cells including Di(a) antigen to evaluate the effectiveness of three screening cells. METHODS: A total of 307 patients who had received packed red cell transfusion more than three times during the last 6 months in our hospital were enrolled. They were employed for unexpected antibody screening test using two sets of screening cells not including Di(a) antigen and three sets including Di(a) antigen by LISS/Coombs gel card. RESULTS: Among 307 patients, 12 were positive using two cells and 15 were positive using three cells. Three patients showed discordant result and one of them was positive for the cell including Di(a) antigen (0.33%). Antibody identification was performed using the panel which does not include Di(a) antigen and it was negative for all of the antigens listed on the panel so that the presence of anti-Di(a) was suspected. CONCLUSION: It can be difficult to use three cells including Di(a) antigen for all patients due to cost, however, use of three cells is recommended in patients with multiple transfusion history.


Subject(s)
Humans , Incidence , Korea , Mass Screening
18.
Laboratory Medicine Online ; : 149-156, 2015.
Article in Korean | WPRIM | ID: wpr-20544

ABSTRACT

BACKGROUND: Hepcidin, a key regulator of iron homeostasis, is associated with iron metabolism imbalance in patients with chronic kidney disease (CKD). However, serum hepcidin level in anemic patients with CKD presents a contradictory picture. We investigated the relationship between serum hepcidin-25 level and iron parameters in patients with CKD. METHODS: We defined and categorized patients with CKD according to the Kidney Disease Outcomes Quality Initiative (KDOQI) guidelines. We analyzed the relationship between serum hepcidin-25 level and iron parameters [serum iron, total iron-binding capacity (TIBC), unbound iron-binding capacity (UIBC), transferrin saturation, and ferritin levels] according to the CKD stage and clinical and laboratory characteristics. RESULTS: Hb level, TIBC, and UIBC decreased and ferritin level increased (Ptrend0.05). CONCLUSIONS: Serum hepcidin-25 level was not found to be associated with iron parameters or clinical status of CKD patients in our study. Determination of hepcidin-25 levels may not provide more information than conventional iron parameters in monitoring iron metabolism in CKD patients. However, further studies are needed to establish the clinical utility of hepcidin measurement in CKD patients.


Subject(s)
Humans , Anemia , Ferritins , Hepcidins , Homeostasis , Iron , Kidney , Kidney Diseases , Metabolism , Renal Insufficiency, Chronic , Transferrin
19.
Annals of Laboratory Medicine ; : 76-81, 2015.
Article in English | WPRIM | ID: wpr-34572

ABSTRACT

BACKGROUND: Recently, the iNtRON VRE vanA/vanB real-time PCR (iNtRON; iNtRON Biotechnology, Korea) assay, a multiplex real-time PCR method, was introduced. In this prospective study, we compared the iNtRON assay with the Seeplex VRE ACE detection kit (Seeplex; Seegene, Korea), a conventional multiplex PCR assay. METHODS: A chromogenic agar-based culture, in which pre-selected vancomycin-resistant enterococci (VRE) was grown and subsequently plated on blood agar with vancomycin disks, was regarded as the reference method. A total of 304 consecutive rectal swab specimens were tested for VRE by culture and by iNtRON and Seeplex PCR assays. For the PCR assays, specimens were enriched for 16-24 hr before PCR. RESULTS: VRE were isolated from 44 (14.5%) specimens by chromogenic agar-based culture. The clinical sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the iNtRON assay were 100% (95% confidence interval: 89.8%-100%), 99.2% (96.9%-99.9%), 95.6% (83.6%-99.2%), and 100% (98.2%-100%), respectively, while those of the Seeplex assay were 97.7% (86.2%-99.9%), 99.6% (97.5%-99.9%), 97.7% (86.2%-99.9%), and 99.6% (97.5%-99.9%), respectively. The iNtRON assay had a detection limit of 3,159 copies/microL and 13,702 copies/microL for the vanA and vanB genes, respectively. No cross-reactivity was observed in 11 non-VRE bacterial culture isolates. CONCLUSIONS: The overall performance of the iNtRON assay was comparable to that of a chromogenic agar-based culture method for prompt identification of VRE-colonized patients in hospitals. This assay could be an alternative or supportive method for the effective control of nosocomial VRE infection.


Subject(s)
Humans , Bacterial Proteins/genetics , Bacterial Typing Techniques/methods , Carbon-Oxygen Ligases/genetics , DNA, Bacterial/metabolism , Gram-Positive Bacterial Infections/microbiology , Reagent Kits, Diagnostic , Real-Time Polymerase Chain Reaction , Vancomycin Resistance/genetics , Vancomycin-Resistant Enterococci/genetics
20.
Korean Journal of Pediatrics ; : 50-53, 2014.
Article in English | WPRIM | ID: wpr-48150

ABSTRACT

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC (p.Pro22Argfs*2) and c.1090_1091delCT (p.Leu364Glufs*93). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.


Subject(s)
Humans , Infant, Newborn , Fever , Flow Cytometry , Frameshift Mutation , Hemodiafiltration , Lymphohistiocytosis, Hemophagocytic , Molecular Biology , Multiple Organ Failure , Perforin , Respiration, Artificial
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