Long-Term Anticoagulation Therapy for Antiphospholipid Syndrome Following Unsuccessful Arterial Thrombosis Stent Procedure: A Case Report / 임상소아혈액종양

Antiphospholipid syndrome (APS) is an autoimmune, multisystemic disorder marked by arterial, venous, or small-vessel thromboembolic events and persistence of antiphospholipid antibodies (aPL). Approximately 50% of APS patients exhibit primary disease features, while the remainder present with concurrent systemic autoimmune conditions. Venous thromboses are more common than arterial thromboses, with the latter primarily developing within the cerebral arteries, as in transient ischemic attacks or strokes. The incidence of thrombosis is higher in cases of APS with systemic lupus erythematosus than in primary APS. Thrombocytopenia, observed in 20-40% of APS patients, is generally moderate, asymptomatic, and does not require intervention. Thrombosis may be linked to autoimmune hemolysis, both of which are associated with aPL. Triple positivity, a high-risk serological profile, including lupus erythematosus, anti-cardiolipin antibodies, and anti-B2 glycoprotein I antibodies, is related to aPL. Positive results for all three serologic tests significantly increase thrombosis risk, necessitating continuous aspirin and warfarin use to mitigate risk.We here report a case involving a 15-year-old girl with triple-positive APS who underwent unsuccessful thrombolysis and balloon catheter dilation procedures and required long-term arterial thrombosis treatment with aspirin and warfarin.

Beta-Thalassemia with Initial Presentation as Immune Thrombocytopenia:A Case Report / 임상소아혈액종양

Immune thrombocytopenia (ITP) is characterized by a low platelet count caused by immune-mediated platelet destruction. In children, ITP usually resolves on its own within three months, but treatment may be necessary in some cases. Beta-thalassemia (BT) is an inherited anemia caused by a deficiency in beta-globin protein chain synthesis, and its prevalence is increasing worldwide. Anemia is the most critical symptom, and its severity varies from mild to severe. Patients with BT typically have normal white blood cell (WBC) and platelet counts; however, in some cases, they may experience thrombocytosis or thromboembolic events. Thrombocytopenia is rare in patients with BT; however, some cases of ITP and BT co-occurrence have been reported in patients with thrombotic thrombocytopenic purpura (TTP). This report describes the case of a five-year-old girl diagnosed with BT who presented with immune thrombocytopenia and received rituximab.

SARS-CoV-2 Infection Mimicking Neutropenic Fever during Chemotherapy for Acute Lymphoblastic Leukemia: A Case Report / 임상소아혈액종양

Children with SARS-CoV-2 infection typically exhibit mild respiratory symptoms, with only a small proportion presenting with gastrointestinal symptoms. However, children and adolescents with cancer may develop severe illnesses when infected with respiratory viruses. Most patients are asymptomatic or have mild-to-moderate infections, but a significant percentage face severe or critical COVID-19-related illnesses. Diagnosing SARS-CoV-2 in pediatric patients is challenging because of frequent asymptomatic cases or those presenting with only a fever. In pediatric patients with SARS-CoV-2, heightened inflammatory markers and coagulation abnormalities are common. Increased levels of inflammatory markers and lymphopenia are risk factors for severe illness, making essential blood tests crucial as potential indicators of disease severity. Febrile neutropenia (FN), a common and potentially fatal side effect of chemotherapy, occurs in roughly 50% of children receiving cancer chemotherapy, and individuals with FN should remain vigilant for SARS-CoV-2 infection, even with mild symptoms. COVID-19-related fatalities occur in 4% of pediatric patients, which is significantly lower than the 25% observed in adult cancer patients but disproportionately higher than the 0.5% mortality rate among general pediatric cohorts.The case of a 12-year-old boy with neutropenic fever undergoing intensive anticancer therapy who was later confirmed to have SARS-CoV-2 infection highlights the importance of vigilance in such patients.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

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.

Meckel's Diverticulum Diagnosed in a Child with Suspected Small Bowel Crohn's Disease / 대한소아소화기영양학회지

We report a rare case of Meckel's diverticulum in a boy who initially presented with chronic iron deficiency anemia (IDA) without any history of gastrointestinal (GI) bleeding at 8 years-old. Isolated small bowel Crohn's disease was suspected based on findings of small bowel ulcers on capsule endoscopy. At four years from initial presentation, he developed massive GI bleeding. Abdominal computed tomographic angiography and small bowel series revealed findings suggestive of Meckel's diverticulum. Meckel's diverticulum should be suspected in children with unexplained chronic IDA even in the absence of prominent GI bleeding and negative findings on repetitive Meckel's scans. Moreover, Meckel's diverticulum should be included in the differential diagnosis of isolated small bowel Crohn's disease when the disease is limited to a short segment of the distal small bowel, as ulcers and inflammation may result as a consequence of acid secreted from adjacent heterotopic gastric mucosa constituting the Meckel's diverticulum.

Is the Diagnostic Trial with Proton Pump Inhibitors Reasonable for School Age Children with Gastroesophageal Reflux Symptoms? / 대한소아소화기영양학회지

PURPOSE: On the basis of evidence, we aimed to reevaluate the necessity of the empirical proton pump inhibitor (PPI) trial for children with suspected gastroesophageal reflux disease (GERD). METHODS: We analyzed the frequency of GERD in 85 school-age children with gastroesophageal reflux (GER) symptoms, who received 24-hour esophageal pH monitoring and/or upper endoscopy. According to the reflux index (RI), the children were classified into normal (RI <5%), intermediate (5%≤ RI <10%), or abnormal (RI ≥10%) groups. RESULTS: Fifty six were female and 29 were male. Their mean age was 12.6±0.5 (±standard deviation) years (range: 6.8–18.6). The RI analysis showed that the normal group included 76 patients (89.4%), the intermediate group included 6 patients (7.1%), and the abnormal group included 3 patients (3.5%). The DeMeester score was 5.93±4.65, 14.68±7.86 and 40.37±12.96 for the normal, intermediate and abnormal group, respectively (p=0.001). The longest reflux time was 5.56±6.00 minutes, 9.53±7.84 minutes, and 19.46±8.35 minutes in the normal, intermediate, and abnormal group, respectively (p=0.031). Endoscopic findings showed reflux esophagitis in 7 patients. On the basis of the Los Angeles Classification of Esophagitis, 5 of these patients were included in group A, 1 patient, in group B and 1 patient, in group C. CONCLUSION: The incidence of GERD was very low in school-age children with GER symptoms. Therefore, injudicious diagnostic PPI trials would be postponed until the actual prevalence of GERD is verified in future prospective studies.

A Case of Ethosuximide-Induced Aplastic Anemia Successfully Treated with Methylprednisolone Pulse Therapy / 임상소아혈액종양

Aplastic anemia may develop secondary to environmental exposure to entities such as chemicals, medical drugs, and infectious agents. Fatal complications from antiepileptic medications may occur despite careful and appropriate use. We report the case of a 9-year-old girl with a presenting diagnosis of aplastic anemia following treatment with ethosuximide for absence seizures. Aplastic anemia can now be cured with stem cell transplantation or immunosuppressive therapy. In this case, however, because of the impossibility of bone marrow transplantation and the specific needs of the patient's parents, three courses of methylprednisolone pulse therapy were administered. Following the therapy, there was improvement in pancytopenia and complete remission in the bone marrow. No adverse side effects of therapy were observed. The authors suggest that methylprednisolone pulse therapy may be a treatment for acquired aplastic anemia.

Comparative study on long-term stability in mandibular sagittal split ramus osteotomy: hydroxyapatite/poly-l-lactide mesh versus titanium miniplate / 대한악안면성형재건외과학회지

BACKGROUND@#Resorbable devices have recently been adopted in the field of orthognathic surgery with controversies about their postoperative skeletal stability. Hence, we determined the long-term skeletal stability of unsintered hydroxyapatite/poly-l-lactic acid (HA/PLLA) mesh for osteofixation of mandibular sagittal split ramus osteotomy (SSRO), and compared it with that of titanium miniplate.@*METHODS@#Patients were divided into resorbable mesh and titanium miniplate fixation groups. A comparative study of the change in the mandibular position was performed with preoperative, 1-day, 6-month, and 2-year postoperative lateral cephalograms.@*RESULTS@#At postoperative 6 months—compared with postoperative 1 day, point B (supra-mentale) was significantly displaced anteriorly in the titanium-fixation group. Moreover, at postoperative 2 years—compared with postoperative 6 months, point B was significantly displaced inferiorly in the titanium-fixation. However, the HA/PLLA mesh-fixation group did not show any significant change with respect to point B postoperatively.@*CONCLUSIONS@#The HA/PLLA mesh-fixation group demonstrated superior long-term skeletal stability with respect to the position of mandible, when compared with the titanium-fixation group.

Associations among the Degree of Nonalcoholic Fatty Liver Disease, Metabolic Syndrome, Degree of Obesity in Children, and Parental Obesity / 대한소아소화기영양학회지

PURPOSE: To analyze the associations among the degrees of nonalcoholic fatty liver disease (NAFLD) by ultrasonography and metabolic syndrome, degrees of obesity in children, and degrees of parental obesity. METHODS: A total of 198 children with obesity who visited a pediatric obesity clinic were prospectively enrolled in this study. The severity of NAFLD based on ultrasonography was classified into no, mild, moderate, or severe NAFLD group. The degree of obesity based on the percentage over standard weight for height per sex was classified into mild, moderate, or severe. RESULTS: Of 132 patients evaluated for the degree of NAFLD and metabolic syndrome, the p-value of correlation between the two factors was 0.009. Therefore, metabolic syndrome might significantly affect the degree of NAFLD. Of 158 patients evaluated for the degree of NAFLD and the degree of obesity, the p-value of correlation between the two factors was 0.122. Of 154 patients evaluated for the degree of obesity and father's obesity, the p-value was 0.076. Of 159 patients evaluated for the degree of obesity and mother's obesity, the p-value was 0.000, indicating that mother's obesity could significantly affect the degree of obesity in children. Of 142 patients evaluated for the degree of obesity and metabolic syndrome, the p-value was 0.288. CONCLUSION: Metabolic syndrome might significantly affect the degree of nonalcoholic fatty liver in children. In addition, mother's obesity might be a significant factor that affects the degree of obesity in children.

Sonographic Growth Charts for Kidney Length in Normal Korean Children: a Prospective Observational Study

Kidney length is the most useful parameter for clinical measurement of kidney size, and is useful to distinguish acute kidney injury from chronic kidney disease. In this prospective observational study of 437 normal children aged between 0 and < 13 years, kidney length was measured using sonography. There were good correlations between kidney length and somatic values, including age, weight, height, and body surface area. The rapid growth of height during the first 2 years of life was intimately associated with a similar increase in kidney length, suggesting that height should be considered an important factor correlating with kidney length. Based on our findings, the following regression equation for the reference values of bilateral kidney length for Korean children was obtained: kidney length of the right kidney (cm) = 0.051 × height (cm) + 2.102; kidney length of the left kidney (cm) = 0.051 × height (cm) + 2.280. This equation may aid in the diagnosis of various kidney disorders.

Exercise Strategies for the Prevention and Treatment of Non-alcoholic Fatty Liver Disease

The prevalence of non-alcoholic fatty liver disease (NAFLD) is steadily increasing in conjunction with increases in obesity, type 2 diabetes, and physical inactivity. NAFLD encompasses a spectrum of conditions associated with lipid deposition in hepatocytes, ranging from simple steatosis to non-alcoholic steatohepatitis (NASH) and to advanced fibrosis and cirrhosis. A large proportion of patients with NAFLD have co-existing metabolic syndrome, which is also a major risk factor of cardiovascular disease. There is an urgency to recognize that NAFLD poses an additional risk for cardiovascular disease and should involve early aggressive risk factor modification. A lifestyle modification of diet and physical activity targeting substantial weight loss is considered as the first-line defense system against NAFLD. In this review, the roles of physical activity are discussed as an effective and safe means to combat NAFLD and its metabolic complications.

Single Cavernous Hemangioma of the Small Bowel Diagnosed by Using Capsule Endoscopy in a Child with Chronic Iron-Deficiency Anemia

Cavernous hemangiomas of the gastrointestinal tract are extremely rare. In particular, the diagnosis of small bowel hemangiomas is very difficult in children. A 13-year-old boy presented at the outpatient clinic with dizziness and fatigue. The patient was previously diagnosed with iron-deficiency anemia at 3 years of age and had been treated with iron supplements continuously and pure red cell transfusion intermittently. Laboratory tests indicated that the patient currently had iron-deficiency anemia. There was no evidence of gross bleeding, such as hematemesis or bloody stool. Laboratory findings indicated no bleeding tendency. Gastroduodenoscopy and colonoscopy results were negative. To obtain a definitive diagnosis, the patient underwent capsule endoscopy. A purplish stalked mass was found in the jejunum, and the mass was excised successfully. We report of a 13-year-old boy who presented with severe and recurrent iron-deficiency anemia caused by a cavernous hemangioma in the small bowel without symptoms of gastrointestinal bleeding.

Long-term outcome of patients with p22phox-deficient chronic granulomatous disease on Jeju Island, Korea / 소아과

PURPOSE: This study investigated the long-term clinical outcomes of patients with p22(phox)-deficient chronic granulomatous disease (CGD) on Jeju Island and retrospectively evaluated the effects of interferon-gamma (IFN-gamma) prophylaxis. METHODS: The medical records of 15 patients with CGD were retrospectively reviewed. The efficacy of IFN-gamma prophylaxis was evaluated by comparing the frequency of severe infections before and after starting continuous prophylaxis with IFN-gamma. RESULTS: At the time of the analysis, 14 patients were alive, with a median age of 14.3 years. The diagnosis of CGD was made at a median age of 2.4 years, and the median age at onset of severe infection was 0.3 years. Thirteen of the 15 patients had their first severe infection within the first year of life. The overall incidence of severe infection was 1.36 infections per patient-year; pneumonia, suppurative lymphadenitis, and skin and subcutaneous abscesses were the most common infections. Aspergillus species were the most frequently isolated microorganisms, present in 15.8% of isolates. IFN-gamma did not significantly change the rate of severe infection. The survival rate for patients after 2 years of age was 93%; there was a prolonged survival plateau beyond the age of 2. CONCLUSION: Compared with cases of X-linked CGD reported in other studies, patients with CGD on Jeju Island did not show obviously different clinical manifestations, but they had a significantly higher survival rate. Further studies with a substantially longer period of observation, and with more patients under intensive surveillance are necessary to elucidate the prophylactic efficiency of IFN-gamma.

Systemic Classification for a New Diagnostic Approach to Acute Abdominal Pain in Children / 대한소아소화기영양학회지

PURPOSE: With previous methods based on only age and location, there are many difficulties in identifying the etiology of acute abdominal pain in children. We sought to develop a new systematic classification of acute abdominal pain and to give some helps to physicians encountering difficulties in diagnoses. METHODS: From March 2005 to May 2010, clinical data were collected retrospectively from 442 children hospitalized due to acute abdominal pain with no apparent underlying disease. According to the final diagnoses, diseases that caused acute abdominal pain were classified into nine groups. RESULTS: The nine groups were group I "catastrophic surgical abdomen" (7 patients, 1.6%), group II "acute appendicitis and mesenteric lymphadenitis" (56 patients, 12.7%), group III "intestinal obstruction" (57 patients, 12.9%), group IV "viral and bacterial acute gastroenteritis" (90 patients, 20.4%), group V "peptic ulcer and gastroduodenitis" (66 patients, 14.9%), group VI "hepatobiliary and pancreatic disease" (14 patients, 3.2%), group VII "febrile viral illness and extraintestinal infection" (69 patients, 15.6%), group VIII "functional gastrointestinal disorder (acute manifestation)" (20 patients, 4.5%), and group IX "unclassified acute abdominal pain" (63 patients, 14.3%). Four patients were enrolled in two disease groups each. CONCLUSION: Patients were distributed unevenly across the nine groups of acute abdominal pain. In particular, the "unclassified abdominal pain" only group was not uncommon. Considering a systemic classification for acute abdominal pain may be helpful in the diagnostic approach in children.

Precore and Core Promoter Mutations of the Hepatitis B Virus Gene in Chronic Genotype C -Infected Children

The precore (G1896A) and core promoter (A1762T, G1764A) mutations of the hepatitis B virus gene are known to be associated with changes in immunologic phase or the progression to complicated liver disease in adults. We analyzed these mutations in chronically HBV-infected children. Serum was collected from 37 children with chronic HBV infection from March 2005 to September 2008. HBV DNA extraction and nested PCR were followed by sequencing of the PCR products. The children were 6.7 +/- 4.6 yr old. All of 37 children had HBV genotype C. Of the cohort, 31 (83.8%) were HBeAg-positive and 6 (16.2%) were HBeAg-negative; the former group comprised 18 (48.6%) who were in the immune-tolerance phase (ITP) and 13 (35.2%) in the immune-clearance phase (ICP). Most of the patients had HBV DNA levels of > 1.0 x 10(8) copies/mL. In the ITP group, only 1 (5.5%) had core promoter mutations, and none had the precore mutation. In the ICP group, only 2 (15.4%) had core promoter mutations; the remaining 6 patients had HBV DNA levels of < 2.0 x 10(3) copies/mL and no core promoter/precore mutations. The very low incidence of the precore/core promoter gene mutation, in children, suggests that these mutations may be the result of life-long chronic HBV infection.

Distribution of Disease Severity and Group A Rotavirus Genotypes (VP7 & VP4) in Children with Acute Rotavirus Gastroenteritis / 대한소아소화기영양학회지

PURPOSE: We aimed to study the distribution of rotavirus genotypes (VP7 and VP4) and disease severity of rotavirus gastroenteritis prevalent in our community. METHODS: Stool samples were collected from 156 children who were hospitalized with rotavirus gastroenteritis from December 2007 to June 2008. The disease severity of all patients was scored using the Vesikari scale. After extraction of ds-RNA of the rotavirus, cDNA synthesis using reverse transcription and polymerase chain reaction (RT-PCR) and multiplex PCR was performed. Following this, the final identification of genotypes was performed. RESULTS: Of the 156 samples, VP7(G) and VP4(P) genotypes were identified in 147 (94.2%) and 140 (89.7%) samples, respectively. G1 (116 of 147 samples; 78.9%) and P[8] (137 of 140 samples; 97.9%) were the most prevalent, respectively. Of the 138 samples identified of combination types of VP7 and VP4, G1P[8] (111 samples; 80.4%) was the most prevalent. Other combination types varied with very low distribution rates. 9.4% of genotypes were not included in the new vaccines. The disease severity score was 11.8+/-3.3 (mean+/-2SD). The distribution of disease severity was mild or moderate in 37.8% and severe in 62.2% of patients. CONCLUSION: The most prevalent genotype combination of rotavirus was G1P[8] and genotypes not included in the vaccines represented 9.4% in our community. Disease severity distribution of hospitalized children with rotavirus gastroenteritis was higher in the severe than in the mild and moderate categories.

A Case of a Retroperitoneal Cystic Lymphangioma Treated by Percutaneous Catheter Drainage and Sclerotherapy / 대한소아소화기영양학회지

Retroperitoneal cystic lymphangiomas are benign, extremely rare tumors. Although surgical resection is the treatment of choice, sclerotherapy should be considered initially. A 9-year-old boy was admitted due do worsening abdominal pain of 4 days duration. Serial complete blood counts revealed a hemoglobin level of 12.8 g/dL on admission to 10.6 g/dL on hospital day 3. An abdominal computed tomography (CT) scan showed a large, lobulated, septated, retroperitoneal cystic mass (10x9.5x5 cm) in the left anterior pararenal space with intracystic hemorrhage surrounding the inferior mesenteric vein (IMV). Because of the high operative risk, we performed a tubogram of the cystic mass, percutaneous catheter drainage (PCD), and ethanol sclerotherapy. The follow-up abdominal CT scan showed that the cystic mass had decreased in size. He is well without relapse of the retroperitoneal cystic mass for 13 months after discharge. Sclerotherapy with PCD should be considered as initial therapy for patients with retroperitoneal cystic lymphangiomas at high surgical risk.

Familial systemic lupus erythematosus in two Korean male siblings / 소아과

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.

Acute Acalculous Cholecystitis Caused by Salmonella enteritidisin a Previously Healthy Child / 대한소아소화기영양학회지

We report a rare case of acute acalculous cholecystitis (ACC) caused by Salmonella enteritidis infection in a previously healthy 9-year-old boy. Salmonella enteritidis was isolated from stool and bile culture. The diagnosis of ACC was established upon clinical, laboratory, and ultrasonographic findings. The patient was successfully treated using percutaneous transhepaticcholecystic drainage (PTCCD) in combination with antibiotics therapy.

Medicolegal Reconstruction of the Jeju 4.3 massacre / 대한법의학회지

Sixty years after the massacre took place at Jeju, authors carried out a series of exhumations. The exhumation based on anthropological and archaeological method allowed for the interpretation of events occurring during the burial of the body and provided data for crime scene investigation, the evidence.