Analyses of Risk Factors of Age-related Macular Degeneration Using Routine Health Check-up Data

Purpose@#To investigate risk factors of age-related macular degeneration (AMD) with routine health check-up data. @*Methods@#Among 9,019 patients older than 40 years who underwent a routine health checkup at a single institution of South Korea from January to December 2017, 7,018 patients were enrolled in this retrospective study. An additional 2,001 patients were accepted, due to the absence of a fundus photo or having a fundus photo of poor quality. @*Results@#Among 7,018 patients, 183 patients were diagnosed with AMD. We diagnosed 104 patients with early-phase, 75 patients with intermediate-phase, and 4 patients with late-phase AMD. The AMD groups were compared to a control group using one-way analysis of variance. The control, early, and intermediate groups showed meaningful differences with respect to age. In propensity score matching for age and sex, no differences were observed with respect to blood pressure, body mass index, or weight; however, significant differences were evident for the parameters of hepatitis B surface antigen, alkaline phosphatase, platelet, erythrocyte sedimentation rate, gamma glutamyl transferase, high density lipoprotein (HDL), carcinoembryonic antigen (CEA), C-reactive protein (CRP), status of exercise, drinking, and smoking between the control and AMD groups. In multiple logistic regression analyses with relevant factors, a strong positive relationship was established for hepatitis B surface antigen, HDL, CRP and CEA elevation, absence of exercise, and current smoking in AMD patients. @*Conclusions@#Risk for AMD was strongly correlated with hepatitis B surface antigen, elevation of HDL, CEA and CRP in blood tests, the absence of exercise, and a history of smoking.

Two Cases of Uveo-meningeal Syndrome

PURPOSE: We report two cases of uveo-meningeal syndrome involving the retina, uvea, and optic disc in both eyes after viral meningitis. CASE SUMMARY: A 16-year-old female was referred to our department with blurred vision in both eyes. She was hospitalized in the pediatric ward with viral meningitis. She showed a norma best-corrected visual acuity (BCVA) and normal intraocular pressure in both eyes, but had severe inflammation in the anterior chamber on slit lamp examination, and optic disc edema and multiple whitish lesions on fundus examination. She was treated with intravenous antibiotic injections and steroid eye drops. After close observation, inflammation in the anterior chamber, optic disc edema, and the multiple whitish lesions in the retina were improved. A 27-year-old male who was treated for viral meningitis at the neurology department was referred to us with blurred vision in both eyes. His BCVAs were 0.7 (right eye) and 0.6 (left eye). The intraocular pressure was normal in both eyes. Slit lamp examination revealed inflammation in the anterior chamber and optic disc edema, and a fundus examination revealed multiple infiltrations. He received treatment for presumed herpes virus infection. After close observation, inflammation in the anterior chamber, optic disc edema, and multiple infiltrations with hemorrhage in the retina were improved. CONCLUSIONS: Clinicians should consider the possibility of uveo-meningeal syndrome, which can cause inflammation in the uvea,retina, and optic disc simultaneous with viral meningitis accompanying blurred vision.

Association of Cognitive Dysfunction with Thyroid Autoantibody / 정신신체의학

OBJECTIVES: The aims of this study were to know the frequency of cognitive dysfunction among patients with autoimmune thyroid disorders, and to reveal influencing factors on it, especially to clarify association with autoimmune thyroid antibodies. METHODS: From sixty-five female patients with autoimmune thyroid disorders, demographic data were obtained by structured interview. Their cognitive funtions were measured using the MMSE-K and the MoCA-K tests. Depression was evaluated by the K-HDRS. RESULTS: 1) Among patients with autoimmune thyroid disorders, 7.69% of them were below 24 on the MMSE-K, while 10.77% were below 22 on the MoCA-K. The frequency of cognitive deficit was not significantly different according to having positivity to antimicrosomal antibodies or not. 2) The antimicrosomal antibody-positive patients had significantly higher antithyroglobulin antibody titers, antimicrosomal antibody titers, and TSH concentration, while had significantly lower free T4 levels(p<0.05, respectively). 3) The total scores of the MMSE-K and the MoCA-K had significant correlation with age, marital status, antithyroglobulin antibody titers and K-HDRS(p<0.05, respectively). 4) The regression analysis revealed that variables such as age, education, autoimmune thyroid antibodies, thyroid function and depression did not influence on cognitive function of patients with autoimmune thyroid disorders. CONCLUSIONS: Our results could not support that cognitive function of patients with autoimmune thyroid disorders had correlation with autoimmune thyroid antibodies.

Graves disease following rabbit antithymocyte globulin treatment of severe aplastic anemia in a Korean child / 소아과

Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have an human leukocyte antigen-matched sibling, he was treated with rabbit ATG (3.5 mg/kg/day for 5 days) and cyclosporine. Five months later, he became transfusion independent. However, 23 months after IST, he complained of mild hand tremors, sweating, weight loss, palpitations, and goiter. Results of thyroid function tests revealed hyperthyroidism (free thyroxine, 3.42 ng/dL; thyroid stimulating hormone [TSH], <0.01 nIU/mL; triiodothyronine, 3.99 ng/mL). Results of tests for autoantibodies were positive for the antimicrosome antibody and TSH-binding inhibitory immunoglobulin, but negative for the antithyroglobulin antibody and antinuclear antibody. He was treated with methimazole, and his symptoms improved. The patient has been disease free for 39 months after IST and 9 months after methimazole treatment. This case report suggests that although rare, rabbit ATG may have implications in the pathogenesis of autoimmune hyperthyroidism. Our findings suggest that thyroid function tests should be incorporated in the routine follow-up of SAA patients treated with ATG.

Alveolar rhabdomyosarcoma with massive disseminated intravascular coagulopathy treated with systemic chemotherapy / 소아과

It is uncommon for pediatric patients with rhabdomyosarcoma to present with clinical and/or laboratory features of disseminated intravascular coagulation (DIC). We report a case of metastatic alveolar rhabdomyosarcoma with severe bleeding because of DIC in a 13-year-old boy. He experienced persistent oozing at the site of a previous operation, gross hematuria, and massive epistaxis. Two weeks after initiating combination chemotherapy consisting of vincristine, doxorubicin, and cyclophosphamide, the patients' laboratory indications of DIC began to resolve. During this period, the patient received massive blood transfusion of a total of 311 units (26 units of red blood cells, 26 units of fresh frozen plasma, 74 units of platelet concentrates, 17 units of single donor platelets, and 168 units of cryoprecipitate), antithrombin-III and a synthetic protease inhibitor. Despite chemotherapy and radiation therapy, he died 1 year later because of disease progression. In children with metastatic rhabdomyosarcoma and massive DIC, prompt chemotherapy and aggressive supportive care is important to decrease malignancy-triggered procoagulant activities.

Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome / 소아과

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 follow-up 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.

Thyroid autoimmunity in children and adolescents with newly diagnosed type 1 diabetes mellitus

PURPOSE: This study aim to investigate the occurrence of autoimmune thyroid disease in children and adolescents at onset of type 1 diabetes mellitus (T1DM) and to assess whether the presence of diabetes-specific autoantibodies can predict the autoimmune thyroid disorder. METHODS: Seventy-three children with T1DM were recruited. Glutamic acid decarboxylase antibodies (GADA), islet cell antibodies (ICA), insulin autoantibodies (IAA), and thyroid antibodies were determined in all patients at the time of diagnosis. RESULTS: The majority of patients (87.7%) had at least one pancreatic antibody (74.0% for GADA, 20.5% for ICA, and 24.7% for IAA). Thyroid autoantibodies were found in 19 of 73 patients (26.0%) at diagnosis. Thyroid autoimmunity (TA) incidence was not statistically significant by GADA or ICA positivity, but significantly higher by IAA positivity (P=0.03), and IAA positivity showed odds ratio, 4.931; 95% confidence interval, 1.323-18.381 for TA. CONCLUSION: The IAA positivity in children and adolescents with TIDM was strongly related to positivity of thyroid autoantibodies and thus it could serve as an index for early prediction of the development of the thyroid autoimmune disorder among children and adolescents with TIDM.

Growing Teratoma Syndrome of the Pineal Gland Recognized Very Early during Chemotherapy in a Child with a Non-Germinomatous Germ-Cell Tumor / 임상소아혈액종양

The growing teratoma syndrome (GTS) is defined as the development of mature low-grade elements in the absence of a recurrent non-germinomatous germ-cell tumor (NGGCT) after partial response to multimodal treatment. It is uncommon and may occur in intracranial NGGCTs. Here, we report that a 7-year-old boy with intracranial NGGCT presented with precocious puberty and developed growing teratoma syndrome only 2 weeks after the first cycle of chemotherapy.

Multiple Ecthyma Gangrenosum in a Hemophagocytic Lymphohistiocytosis Patient / 대한피부과학회지

No abstract available.

Implication of Early Lymphocyte Recovery after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Leukemia

PURPOSE: The repopulating lymphocytes after allogeneic hematopoietic stem cell transplantation have an important role not only on the prevention of serious infections in the early transplantation period, but also on the killing of residual leukemic cells by graft-versus-leukemia effect. The aim of this study was to analyze the impact of lymphocyte recovery after allogeneic stem cell transplantation in children with hematologic malignancies. MATERIALS AND METHODS: We evaluated 69 children transplanted for acute lymphoblastic leukemia (ALL) (n=34), acute myeloid leukemia (AML) (n=26), chronic leukemia (n=7) and juvenile myelomonocytic leukemia (n=2) between 1996 and 2008 at the Chonnam National University Hospital, Korea. The patients were grouped based on absolute lymphocyte counts (ALC) or =500/microL at D+21 and D+30 after transplant. RESULTS: Patients with a High ALC at D+21 and D+30 had a faster neutrophil and platelet engraftment. The High at D+30 group had a better 5 year overall survival (71% vs. 53%, p=0.043) and event-free survival (72% vs. 53%, p=0.065) than the Low at D+30 group. The incidence of grade II-IV acute and chronic graft-versus-host disease (GVHD), and relapse rate did not differ by the ALC counts. However, the Low at D+30 group had a significantly increased risk for transplant-related mortality (p=0.019). The univariate analysis showed that the factors associated with decreased survival were a Low ALC at D+30, patients with high risk ALL, and grade II-IV aGVHD in patients with ALL and AML. CONCLUSION: Early posttransplant serial lymphocyte measurement would be a simple but useful method for predicting transplant outcomes.

Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology

BACKGROUND: The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from a survey on the prevalence and characteristics of patients diagnosed with HHA in Korea from 2007 to 2011. METHODS: Information on patients diagnosed with HHA in Korea and their clinical and laboratory results were collected using a survey questionnaire. Globin gene and red blood cell (RBC) enzyme analyses were performed. In addition, we analyzed data collected by pediatricians. RESULTS: In total, 195 cases of HHA were identified. Etiologies identified for HHA were RBC membranopathies, hemoglobinopathies, and RBC enzymopathies, which accounted for 127 (64%), 39 (19.9%), and 26 (13.3%) cases, respectively. Of the 39 patients with hemoglobinopathies, 26 were confirmed by globin gene analysis, including 20 patients with beta-thalassemia minor, 5 patients with alpha-thalassemia minor, and 1 patient with unstable hemoglobin disease. CONCLUSION: The number of patients diagnosed with hemoglobinopathies and RBC enzymopathies has increased considerably since the previous survey on HHA in Korea, dated from 1997 to 2006. This is likely the result of improved diagnostic techniques. Nevertheless, there is still a need for more sensitive diagnostic tests utilizing flow cytometry and for better standardization of test results to improve the accuracy of diagnosis of RBC membranopathies in Korea. Additionally, more accurate assays for the identification of RBC enzymopathies are warranted.

Growing Teratoma Syndrome of the Pineal Gland Recognized Very Early during Chemotherapy in a Child with a Non-Germinomatous Germ-Cell Tumor / 임상소아혈액종양

The growing teratoma syndrome (GTS) is defined as the development of mature low-grade elements in the absence of a recurrent non-germinomatous germ-cell tumor (NGGCT) after partial response to multimodal treatment. It is uncommon and may occur in intracranial NGGCTs. Here, we report that a 7-year-old boy with intracranial NGGCT presented with precocious puberty and developed growing teratoma syndrome only 2 weeks after the first cycle of chemotherapy.

Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.

Recurrent Plastic Bronchitis in a Child with 2009 Influenza A (H1N1) and Influenza B Virus Infection

Plastic bronchitis is an uncommon disorder characterized by the formation of bronchial casts. It is associated with congenital heart disease or pulmonary disease. In children with underlying conditions such as allergy or asthma, influenza can cause severe plastic bronchitis resulting in respiratory failure. A review of the literature showed nine cases of plastic bronchitis with H1N1 including this case. We report a case of a child with recurrent plastic bronchitis with eosinophilic cast associated with influenza B infection, who had recovered from plastic bronchitis associated with an influenza A (H1N1) virus infection 5 months previously. To the best of our knowledge, this is the first case of recurrent plastic bronchitis related to influenza viral infection. If patients with influenza virus infection manifest acute respiratory distress with total lung atelectasis, clinicians should consider plastic bronchitis and early bronchoscopy should be intervened. In addition, management for underlying disease may prevent from recurrence of plastic bronchitis.

Hematopoietic Stem Cell Transplantation in Children with Leukemia: A Single Institution Experience with Respect to Donors

Aim of this study was to compare the outcomes of transplantation by donor source and to help select the best alternative donor in children with leukemia. Donor sources included matched related donor (MRD, n = 35), allele-matched unrelated donor (M-UD, n = 10) or -mismatched (MM)-UD (n = 13) or unrelated umbilical cord blood (UCB, n = 11). UCB group had a significantly higher incidence of grade II-IV acute graft versus host disease (MRD, 11.8%; M-UD, 30.0%; MM-UD, 15.4%, UCB, 54.4%, P = 0.004) but there was no difference in incidence of chronic graft versus host disease between 4 groups. The 5-yr leukemia-free survival (LFS) was 76.7%, 60.0%, 69.2%, and 45.5%, respectively (P = 0.128). MRD group showed higher LFS rate than UCB group (P = 0.022). However, LFS of M-UD and MM-UD together (65.2%) was not different from that of MRD group (76.7%, P = 0.325), or from that of UCB (45.5%, P = 0.190). The relapse incidence at 5 yr was 17.1%, 20.0%, 15.4%, and 0%, respectively (P = 0.460). The 100-day treatment-related mortality was 2.9%, 20.0%, 7.7%, and 36.4%, respectively (P = 0.011). Despite the limitations of small number of patients, unrelated donor transplants including even allele-mismatched ones, seem to be as effective in children with leukemia lacking suitable relative donors. Also, UCB transplant may serve as another possible option in urgent transplants.

Selective embolization of the internal iliac arteries for the treatment of intractable hemorrhage in children with malignancies / 소아과

PURPOSE: Acute internal hemorrhage is an occasionally life-threatening complication in pediatric cancer patients. Many therapeutic approaches have been used to control bleeding with various degrees of success. In this study, we evaluated the efficacy of selective internal iliac artery embolization for controlling acute intractable bleeding in children with malignancies. METHODS: We retrospectively evaluated the cases of 6 children with various malignancies (acute lymphoblastic leukemia, acute myelogenous leukemia, chronic myelogenous leukemia, T-cell prolymphocytic leukemia, Langerhans cell histiocytosis, and rhabdomyosarcoma), who had undergone selective arterial embolization (SAE) of the internal iliac artery at the Chonnam National University Hwasun Hospital between January 2004 and December 2009. SAE was performed by an interventional radiologist using Gelfoam(R) and/or Tornado(R) coils. RESULTS: The patients were 5 boys and 1 girl with median age of 6.9 years (range, 0.7-14.8 years) at the time of SAE. SAE was performed once in 4 patients and twice in 2, and the procedure was unilateral in 2 and bilateral in 4. The causes of hemorrhage were as follows: hemorrhagic cystitis (HC) in 3 patients, procedure-related internal iliac artery injuries in 2 patients, and tumor rupture in 1 patient. Initial attempt at conservative management was unsuccessful. Of the 6 patients, 5 (83.3%) showed improvement after SAE without complications. CONCLUSION: SAE may be a safe and effective procedure for controlling acute intractable hemorrhage in pediatric malignancy patients. This procedure may obviate the need for surgery, which carries an attendant risk of morbidity and mortality in cancer patients with critical conditions.

Efficacy and safety of deferiprone (Ferriprox), an oral iron-chelating agent, in pediatric patients / 대한혈액학회지

BACKGROUND: Iron overload is a predictable and life-threatening complication in patients dependent on the regular transfusion of RBCs. The aims of this study were to investigate the efficacy and safety of deferiprone in a variety of pediatric hematologic and/or oncologic patients with a high iron overload. METHODS: Seventeen patients (age: 1.1-20.4 years; median: 10.6 years) from 7 hospitals who were treated with deferiprone from 2006 to 2009 were enrolled in this study. Medical records of enrolled patients were reviewed retrospectively. RESULTS: Serum ferritin levels were 4,677.8+/-1,130.9 microgram/L at baseline compared to 3,363.9+/-1,149.7 microgram/L at the end of deferiprone treatment (P=0.033). Only 1 patient developed neutropenia as a complication. CONCLUSION: Deferiprone treatment is relatively safe for pediatric patients suffering from various hematologic and oncologic diseases that require RBC transfusions as part of treatment. However, the potential development of critical complications such as agranulocytosis and/or neutropenia remains a concern.

Comparison of total body irradiation-based or non-total body irradiation-based conditioning regimens for allogeneic stem cell transplantation in pediatric leukemia patients / 소아과

PURPOSE: This study aims to compare the outcome of total body irradiation (TBI)- or non-TBI-containing conditioning regimens for leukemia in children. METHODS: We retrospectively evaluated 77 children conditioned with TBI (n=40) or non-TBI (n=37) regimens, transplanted at Chonnam National University Hospital between January 1996 and December 2007. The type of transplantation, disease status at the time of transplant, conditioning regimen, engraftment kinetics, development of graft-versus-host disease (GVHD), complications, cause of deaths, overall survival (OS), and event-free survival (EFS) were compared between the 2 groups. RESULTS: Among 34 patients with acute lymphoblastic leukemia (ALL), 28 (82.4%) were in the TBI group, while 72.7% (24/33) of patients with myeloid leukemia were in the non-TBI group. Although the 5-year EFS of the 2 groups was similar for all patients (62% vs 63%), the TBI group showed a better 5-year EFS than the non-TBI group when only ALL patients were analyzed (65% vs 17%; P=0.005). In acute myelogenous leukemia patients, the non-TBI group had better survival tendency (73% vs 38%; P=0.089). The incidence of GVHD, engraftment, survival, cause of death, and late complications was not different between the 2 groups. CONCLUSION: The TBI and non-TBI groups showed comparable results, but the TBI group showed a significantly higher 5-year EFS than the non-TBI group in ALL patients. Further prospective, randomized controlled studies involving larger number of patients are needed to assess the late-onset complications and to compare the socioeconomic quality of life.

Thrombotic thrombocytopenic purpura with decreased level of ADAMTS-13 activity and increased level of ADAMTS-13 inhibitor in an adolescent / 소아과

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other is acquired and associated with anti-ADAMTS-13 autoantibodies. The measurement of ADAMTS-13 activity in plasma, identification of ADAMTS-13 circulating inhibitor, anti-ADAMTS-13 IgG, and ADAMTS-13 gene sequencing are crucial to the diagnosis of TTP. Plasma exchanges are the first-line treatment for acquired TTP, combined with steroids and immunosuppressive drugs. Here, we describe the case of an adolescent patient with TTP, confirmed by decreased level of ADAMTS-13 activity and an increased level of ADAMTS-13 inhibitor, who was successfully treated by plasma exchanges.

A case of atypical hemolytic uremic syndrome as an early manifestation of acute lymphoblastic leukemia / 소아과

Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children younger than 4 years and is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. HUS associated with diarrheal prodrome is usually caused by Shiga toxin-producing Escherichia coli O157:H7 or by Shigella dysenteriae, which generally has a better outcome. However, atypical cases show a tendency to relapse with a poorer prognosis. HUS has been reported to be associated with acute lymphoblastic leukemia (ALL) in children. The characteristics and the mechanisms underlying this condition are largely unknown. In this study, we describe the case of an 11-year-old boy in whom the diagnosis of ALL was preceded by the diagnosis of atypical HUS. Thus, patients with atypical HUS should be diagnosed for the possibility of developing ALL.