The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however, renal function recovers in most of them. About 10% of children with HUS do not reveal preceding diarrheal illness, and is referred to as D- HUS or atypical HUS. Atypical HUS comprises a heterogeneous group of thrombomicroangiopathy (TMA) triggered by non-enteric infection, virus, drug, malignancies, transplantation, and other underlying medical condition. Emerging data indicate dysregulation of alternative complement pathway in atypical HUS, and genetic analyses have identified mutations of several regulatory genes; i.e. the fluid phase complement regulator Factor H (CFH), the integral membrane regulator membrane cofactor protein (MCP; CD46) and the serine protease Factor I (IF). The uncontrolled activation of the complement alternative pathway results in the excessive consumption of C3. Plasma exchange or plasma infusion is recommended for treatment of, and has dropped the mortality rate. However, overall prognosis is poor, and many patients succumb to end-stage renal disease. Clinical presentations, response to plasma therapy, and outcome after renal transplantation are influenced by the genotype of the complement regulators. Thrombotic thrombocytopenic purpura (TTP), another type of TMA, occurs mainly in adults as an acquired disease accompanied by fever, neurologic deficits and renal abnormalities. However, less frequent cases of congenital or hereditary TTP associated with ADAMTS-13 (a disintegrin and metalloprotease, with thrombospondin 1-like domains 13) gene mutations have been reported, also. Recent advances in molecular genetics better allow various HUS to be distinguished on the basis of their pathogenesis. The genetic analysis of HUS is important in defining the underlying etiology, predicting the genotype-related outcome and optimizing the management of the patients.
Yoon, Byung Gyu;Kim, Hee Na;Han, Ui Joung;Jang, Hae In;Han, Dong Kyun;Baek, Hee Jo;Hwang, Tai Ju;Kook, Hoon
Clinical and Experimental Pediatrics
/
v.57
no.3
/
pp.125-134
/
2014
Purpose: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. Methods: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. Results: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short followup duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. Conclusion: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.
Ku, Ji-yeong;Park, Jun-Hwan;Kim, Seo-Ho;Cho, Yong-il;Kim, Chan-Lan;Cha, Seung-Eon;Shin, Gee-Wook;Park, Jinho
Korean Journal of Veterinary Service
/
v.45
no.1
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pp.47-54
/
2022
Subcutaneous abscesses, which occur mainly in goats and sheep, are lymph node abscesses caused by Corynebacterium pseudotuberculosis infection, and are divided into internal, external, and mixed types depending on the type of occurrence. While diagnostic methods for subcutaneous abscesses have been continuously studied, research reports for effective treatment and management of subcutaneous abscesses are inadequate. Therefore, this study was conducted to determine the changes in biometric information related to the inflammatory markers of goats induced by subcutaneous abscesses by infection with C. pseudotuberculosis. For this, hematological tests, analysis of inflammatory indicators, and analysis of serum proteins through electrophoresis separation of goats with healthy goats and goats inoculated with C. pseudotuberculosis to induce subcutaneous abscesses were compared and analyzed by date, and the differences and characteristics were identified periodically. As a result, in goats induced with subcutaneous abscesses, anemia findings related to a rapid decrease in red blood cell (RBC), hematocrit (HCT), and hemoglobin (Hb) were observed, and a significant increase in inflammatory cells expressed in total white blood cell (WBC), neutrophil, and monocytes was observed. And the levels of acute phase protein (APP) such as fibrinogen, haptoglobin, and serum amyloid A (SAA) were observed to increase rapidly immediately after infection. In addition, in the results of electrophoretic analysis of serum proteins, it was observed that the levels of α-globulin and β-globulin were significantly increased in goats with subcutaneous abscesses. That is, when looking at these changes, it was found that the systemic inflammatory response of goats was rapidly induced immediately after infection with the C. pseudotuberculosis pathogen. Through this study, it was possible to identify changes in the biomarkers of goats with subcutaneous abscesses, which had not been reported. Furthermore, these analyzed data are thoughts to be of great help in identifying, treating, and managing the goats of subcutaneous abscesses.
An, Hong Yul;Baek, Seung Min;Choi, Youn Young;Kim, You sun;Lee, Eui Jun;Choi, Yu Hyeon;Choi, Yun Jung;Suh, Dong In;Kwak, Jae Gun;Kim, Woong-Han;Park, June Dong
Pediatric Infection and Vaccine
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v.25
no.2
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pp.101-106
/
2018
A 6-year-old boy with underlying hemolytic anemia of unknown etiology, atopic dermatitis, and recurrent urticaria visited our hospital because of acute respiratory failure induced by influenza A. Despite mechanical ventilation after endotracheal intubation along with inhalation of nitric oxide, respiratory acidosis and hypoxemia persisted. Veno-venous extracorporeal membrane oxygenation (VV ECMO) insertion was performed to provide respiratory support. After performing flexible bronchoscopy, we found that thick mucus plugs were obstructing the right bronchus intermedius and the upper lobe orifice. After bronchial washing and removal of the plugs, we were able to wean the patient off VV ECMO and transfer him to the general ward. He was discharged without any neurologic or pulmonary sequelae.
Bahk, Young Yil;Ahn, Seong Kyu;Jeon, Heung Jin;Na, Byoung-Kuk;Lee, Sung-Keun;Shin, Ho-Joon
Parasites, Hosts and Diseases
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v.60
no.4
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pp.281-288
/
2022
Malaria continues to be one of the most crucial infectious burdens in endemic areas worldwide, as well as for travelers visiting malaria transmission regions. It has been reported that 8-aminoquinolines are effective against the Plasmodium species, particularly primaquine, for anti-hypnozoite therapy in P. vivax malaria. However, primaquine causes acute hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Therefore, G6PD deficiency testing should precede hypnozoite elimination with 8-aminoquinoline. Several point-of-care devices have been developed to detect G6PD deficiency. The aim of the present study was to evaluate the performance of a novel, quantitative G6PD diagnostics based on a metagenomic blue fluorescent protein (mBFP). We comparatively evaluated the sensitivity and specificity of the G6PD diagnostic modality with standard methods using 120 human whole blood samples. The G6PD deficiency was spectrophotometrically confirmed. The performance of the G6PD quantitative test kit was compared with that of a licensed control medical device, the G6PD strip. The G6PD quantitative test kit had a sensitivity of 95% (95% confidence interval (CI): 89.3-100%) and a specificity of 100% (95% CI: 94.3-100%). This study shows that the novel diagnostic G6PD quantitative test kit could be a cost-effective and time-efficient, and universally mandated screening tool for G6PD deficiency.
Objectives : Though Tsutsugamushi disease has been reported with increasing frequencies in rural communities in Korea, it is not easy to find the nursing investigations. Methods : We have conducted a survey on 30 cases who had the fever as a chief complaint, then clinically ruled out the Tsutsugamushi disease in autumn of $2000{\sim}2001$. Data were collected retrospectively by investigation of the general characteristics, clinical and laboratory findings, their nursing care. Findings: Of 30 cases, 46.7% were farmers, and 60.0% had chances of exposure to fields or mountains. The characteristic symptoms and signs were febrile sense and chill(100.0%), headache(80.0%), and eschar(66.7%). Abnormal laboratory findings were anemia (23.3%), elevated AST(60.6%), ALT(63.3%), and abnormal urinalysis findings(50.0%). 53.3% were serologically confirmed as Tsutsugamushi disease. Therapeutic nursing cares were composed with warm up by blancket(50.0%), Ice bag(50.0%) and doxycycline antibiotic therapy(100.0%). Other nursing care for them included fluid therapy(100.0%) and nutritional support with regular(56.7%) or soft diet(43.3%). Conclusion: The above results indicate nurses who take care of acute febrile clients should make her responsible for the fever and pain management as well as give education for infection control for the community inhabitants.
Canine babesiosis has been scarcely investigated in the Republic of Korea (ROK). Although it is known that Babesia gibsoni is its primary causative agent, its clinical presentation has not been completely clarified in the ROK. Consequently, the aim of this study was to evaluate the clinical appearance of this parasitic infection based on the anamnesis of the patient and compare of hematological and biochemical test results. Four hundred whole blood samples from patients with a presumptive diagnosis of tick-borne disease were analyzed by polymerase chain reaction (PCR) to amplify the Babesia spp. 18S rRNA gene and by a rapid diagnostic test kit (VetAll Laboratories®) to detect B. gibsoni seroreactive animals. Thirty-six (9.0%) dogs were PCR-positive but only 24 (6.0%) were seropositive. The investigation revealed that all the courses of the disease are present in the ROK, with the acute course being predominant. The acute course tends to consist of inappetence, lethargy, pyrexia, gastrointestinal symptoms, and occasionally hematuria. It also occurs with common hematological abnormalities, such as thrombocytopenia and anemia, and to a lesser extent biochemical abnormalities, such as hyperbilirubinemia, hypoalbuminemia, and elevated liver enzymes. This research shows that B. gibsoni is an endemic hemoparasite capable of producing a variety of clinical manifestations in dogs. For its accurate diagnosis, a descriptive history of the clinical signs, hematology, and biochemical profile of the patient, along with a well-performing PCR assay, are essential. These findings will help in planning pragmatic preventive strategies against this potent threat in the ROK.
Purpose : The hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia thrombocytopenia, and acute renal failure. It is ole of tile most common cause of acute renal failure in children but few reports are available in Korea. Thus we investigated the 23 patients diagnosed as HUS during last 14 years. Method : We retrospectively investigated the etiologic factor, clinical manifestations laboratory findings, treatment modalities, and final outcomes of the patients. Then patients were divided into two groups according to outcome, md comparison was performed. Group A(8) comprised patients who progressed to end-stage renal disease or expired. Group B(15) comprised patients who completely recovered after dialysis treatment. Result The number of patients aged less than 4 years were 17; between 5 and 10 were 4 and more than 10 were 2. The gende ratio was M:F=2 : 1. The etiologic factors were as follows: acute gastroenteritis in 14 patients including 4 bloody diarrhea, upper respiratory tract infection in 7 patients, and 1 patient with herbal mediation. The overall mortality rate was 22$\%$: 2 patients died of US complications, 2 patients died of sepsis, and 1 patient died of pulmonary hemorrhage. Group A (Hb 4.8${\pm}$1.2 g/dL) showed lower value in hemoglobin than group B (Hb 6.3${\pm}$1.7 g/dL) during hospital stay (P< 0.05), And the time interval between tile disease onset and dialysis treatment was significantly longer in group A ($11.9{\pm}9.1\;days\;vs\;2.8{\pm}2.1\;days$) (P< 0.05). Conclusion : Overall mortality rate was 22$\%$. Low hemoglobin value and the prolonged time interval between the disease onset and dialysis treatment were related with poor prognosis. So early diagnosis and appropriate intensive care including dialysis treatment is essential to achieve better outcome in children.
Purpose : This study was performed to characterize the epidemiologic and clinical features of acute adenoviral lower respiratory tract infections(LRTIs). Methods : Virological analysis was done from respiratory specimens obtained from patients with LRTIs hospitalized to other hospitals and referred to the Department of Pediatrics, Seoul National University Children's Hospital(SNUCH) from June 1998 to July 2000. Viral diagnosis was made by isolation of viruses employing HEp-2 cell culture and indirect immunofluorescent staining with monoclonal antibodies. Serotypes of adenoviruses were determined by neutralization test using antiserum for types 1, 2, 3, 4, 5, 6, 7 and 11. Medical records of children admitted to the SNUCH were reviewed retrospectively. Results : Adenovirus was isolated from 118(9.0%) of 1,305 children with LRTIs. Serotypes were 3(39.0%), 7(16.9%), 1(11.0%), 2(7.6%), 4(7.6%), 6(5.9%), 11(2.5%), and 5(0.8%) and 10 strains(8.5%) were not neutralized by antisera included in the study. Infections by type 3 and type 7 occurred in outbreaks. Male to female ratio was 1.0:0.9 and mean age was 1.95 years. The clinical diagnoses were pneumonia(83%), acute tracheobronchitis(12%) and bronchiolitis(5%). Associated symptoms, signs and abnormal laboratory findings included cough(100%), sputum(73.5%), fever(54.2%), rale(59.3%), wheezing(34%), anemia(35%) and leukopenia(15.8%). Mortality was in 13.5%. Residual radiologic sequelae was identified in 32.6% of the patients followed. Conclusion : These data confirms that adenovirus may cause severe lower respiratory tract diseases, and infections by type 3 and 7 may occured in outbreaks.
Seo, Mi Hyun;Kim, Soung Min;Oh, Jin Sil;Myoung, Hoon;Lee, Jong Ho
Maxillofacial Plastic and Reconstructive Surgery
/
v.34
no.5
/
pp.332-336
/
2012
Purpose: The third molar extraction is one of the mostly performed procedures in the department of oral and maxillofacial surgery. In most of dental clinic or hospital, the third molar extraction used to be frequently performed in an office-based surgery, and most patients did not have specific medical history with young ages. Medical history taking are dependent on the only way by asking to the patients about their individual conditions. Therefore, as the specialists of the oral and maxillofacial surgery in the field of dentistry, we suggest a new policy that the preoperative lab must be performed routinely before extraction of the third molar. Methods: This study is based on 1,096 patients who have been managed with third molar extractions, from March 2008 to September 2011 by a single surgeon. The preoperative lab, including complete blood count, coagulation panel, chemistry and serology, was performed before any surgical procedures. The results were informed to the patients regardless of their abnormalities, and any abnormalities related to the surgical procedures, such as platelet count and coagulation factors, were checked and corrected safely. Results: Through the preoperative blood test, systemic diseases that the patients had not recognized before, such as anemia, leukopenia, fatty liver and chronic renal disease, were identified. Patients with acute or chronic leukemia, Hepatitis B, and HIV positive, were also detected as a small number. Also, the possibilities of the cross-infection between dentists and patients or between patients and patients, and any other emergency situations can be prevented; as well as the public health condition can be improved, too. The patients were satisfied with low cost preventive blood test and high quality of medical services. Conclusion: Therefore, routine medical lab testing, including history taking are needed before an office-based minor surgery, such as third molar extractions, and these results were suggested as a new policy in the field of dentistry.
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