Two Cases of Infant Hemophilia A Patients with Inhibitors / 임상소아혈액종양

Development of inhibitors is currently one of the most serious complications of hemophilia treatment. Typically, the propensity to develop an inhibitor is likely influenced by both genetic and non-genetic factors. Hemophilia patients with inhibitors are partially or completely refractory to traditional replacement of the deficient clotting factors and are at increased risk of bleeding as compared to patients without inhibitors. Several cases of infant hemophilia A with inhibitor have been reported in other countries, but no such patient has so far been reported in South Korea. We report two infants affected by hemophilia A with inhibitors, both of whom had bleeding episodes that were successfully treated with recombinant activated factor VII. Clinicians should remain aware of potential inhibitor development in infant hemophilia A patients and such patients should be carefully monitored.

Two Cases of Infant Hemophilia A Patients with Inhibitors / 임상소아혈액종양

Development of inhibitors is currently one of the most serious complications of hemophilia treatment. Typically, the propensity to develop an inhibitor is likely influenced by both genetic and non-genetic factors. Hemophilia patients with inhibitors are partially or completely refractory to traditional replacement of the deficient clotting factors and are at increased risk of bleeding as compared to patients without inhibitors. Several cases of infant hemophilia A with inhibitor have been reported in other countries, but no such patient has so far been reported in South Korea. We report two infants affected by hemophilia A with inhibitors, both of whom had bleeding episodes that were successfully treated with recombinant activated factor VII. Clinicians should remain aware of potential inhibitor development in infant hemophilia A patients and such patients should be carefully monitored.

Multiple births conceived by assisted reproductive technology in Korea / 소아과

PURPOSE: The recent trends of multiple births (MBs) conceived by assisted reproductive technology (ART) in Korea were analyzed as well as the relationship with maternal age, especially advanced maternal age. METHODS: Data were obtained from the Korean Statistical Information Service and annual ART reports from the ART committee of the Korean Society of Obstetrics and Gynecology. RESULTS: MBs increased from the early 1990s; there was a 275% increase by 2008. The number of total live births was 448,153 and MBs accounted for 10,767; the MB rate was 24.0% in 2006. Among 2,326 deliveries conceived by ART, multiple deliveries accounted for 786 (33.8%). The total number of live births with ART was 3,125 and 1,585 (50.7%) of them were MBs. During 2006, 14.7% of the entire MBs in Korea were associated with ART. The proportion of women of advanced maternal age was much higher in the ART group than in the total live birth group. CONCLUSION: MBs in women of advanced maternal age have been increasing in Korea with the use of ART. The results of this study showed that ART was a significant factor associated with the increase in MBs in Korea.

A case of intracranial hemorrhage in a neonate with congenital factor VII deficiency / 소아과

Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (NovoSeven(R)) is currently considered the first-line treatment for replacement therapy of FVII deficiency. Here we present a case of severe intracerebral and intraventricular hemorrhage in a neonate with congenital FVII deficiency.

Recent Trends in the Incidence of Multiple Births and Its Consequences on Perinatal Problems in Korea

The aim of this study was to survey multiple birth data and to analyze the recent trends of multiple births and its consequences on perinatal problems in Korea from 1991 to 2008. Data were obtained from the Korean Statistical Information Service. The total number of multiple births showed increasing trends. The multiple birth rate was maintained within less than 10.0 for the decade from 1981 to 1990. However, it increased gradually to reach 27.5 in 2008. The maternal age for multiple births was higher than for total live births. The mean birth weight of the total live births was 3.23 kg; for the multiple births it was 2.40 kg in 2008. The incidence of low birth weight infants (LBWI) among total live births was 3.8% in 2000 and 4.9% in 2008. For multiple births it was 49.2% and 53.0% during the same years. The incidence of preterm births among total live births was 3.8% in 2000 and 5.5% in 2008; for the multiple births it was 38.3% and 51.5% during the same years. The incidence of multiple births and its consequences on perinatal problems (preterm, LBWI, and advanced-maternal age) have been increased steadily over the last two decades in Korea.

A Case of Neonatal Submandibular Gland Abscess / 대한이비인후과학회지

Submandibular gland abscess is exceptionally rare in neonates. We present a case of submandibular gland abscess and etiology, investigations and treatment for this very rare condition. The patient was a 15-day-old neonate with a swelling in the right submandibualr region. She was born after a full term and showed a sign of dehydration. An ultrasound examination demonstrated a multiple lobulated echoic lesion and the right submandibular gland was nonvisible. A CT scan revealed a hypodense round mass measuring 2.5x2.8x2.8 cm and a multiple hyperdense lesion, but no right submandibular glands. A dignosis of submandibular abscess in association with acute suppurative sialadenitis was made. Under general anesthesia, the neck abscess was drained by a 2-cm long incision at two finger-breadths (3 cm) below the inferior border of the ramus of mandibule. A large amount of greenish pus emerged immediately after dividing the platysma. The submandibular salivary gland was nearly not found. Specimen from the pus were taken for the culturing of bacteria, fungi, actinomycetes, and tuberculosis. The wound was irrigated by normal saline and penrose drain was inserted. The antibiotics was administered for 7 days. A three-week follow-up showed no evidence of infection.

Massive Gastric Ulcer Bleeding in a Healthy Full Term Infant / 대한소화기학회지

Gastric ulcer bleeding in neonatal period, mainly in preterm newborn babies or in neonates treated in intensive care units, is relatively frequent, However the occurrence of significant gastric ulcer bleeding in healthy full term infants is unusual. We experienced a case of massive upper gastrointestinal (GI) bleeding in a 3-day-old healthy full term infant. Endoscopic examination confirmed the presence of gastric ulcerations. Treatment was initiated with transfusion and histamine 2 receptor antagonist, and the clinical signs resolved. Mother's serum antibody to Helicobacter pylori (H. pylori) was positive. We collected stool of the patient including other 17 infants in the intensive care unit. A highly sensitive semi-nested PCR for H. pylori DNA was performed, but all infants including the patient revealed negative. H. pylori infection is not related with upper GI bleeding in healthy full term infants. In conclusion, the diagnosis of upper GI bleeding in infant can be easily made by means of pediatric endoscopy, which is a simple and a well tolerated examination.

Current Status of Hematopoietic Stem Cell Transplantation in Korean Children

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is one of the most important armamentarium against various hematologic malignancies or some solid tumors. We investigated the number of patients who might need transplants and compared with that of actual transplants to conceptualize current status and circumstances of HSCTs in Korean children. METHODS: Questionnaires were sent to Korean Society of Hematopoietic Stem Cell Transplantation (KSHSCT) members who were taking care of children with malignancies or hematologic diseases. Almost all of the newly diagnosed patients between Jan, 1st and Dec, 31st, 2003 were enrolled in the study. RESULTS: Seven hundred forty eight children (male to female ratio = 1.4:1) were enrolled. The median age was 6.1 years old (8 days~28.8 years old). Malignant diseases consisted of 695 cases (92.9%), and among them almost half were hematologic malignancies. The participating members speculated that HSCTs should be indicated in 285 children (38.1%) which included 209 allogeneic, and 76 autologous transplants. In reality, however, allogeneic HSCTs were performed only in 140 children (67.0%) with the median interval of 5.9 month, and autologous transplants in 44 children (57.9%) with 8.3 month. In autologous setting, all the patients received peripheral blood stem cells (PBSCs), whereas bone marrow (61%), cord blood (34%), and PBSC (5%) were used in allogeneic HSCTs. Donor types were as follows: unrelated donor (37%), cord blood (34%), sibling donor (25%), and family (4%). The reasons for not performing HSCTs were unfavorable disease status or death, no availability of suitable donor, economical situation, and refusal by parental preferences. Under the strict insurance regulations, many transplants were not covered by insurance. More autologous transplants were performed without insurance coverage than allogeneic HSCTs (P=0.013). Those cases were advanced cases and HLA mismatch transplants for allogeneic setting, and relatively rare diseases still awaiting favorable results of transplants for autologous setting. CONCLUSION: HSCTs are essential part of treatment strategies for children with various diseases. Unfortunately, however, a third of patients who were in need of transplants did not receive HSCTs due to various reasons. It is necessary to expand unrelated donor pool or cord blood banks for the cases lacking HLA-identical sibling donors. Also medical insurances should cover HSCTs for rare diseases as well as for less favorable but novel situations where there are no suitable alternatives.

A Case of Neonatal Suppurative Submandibular Sialadenitis: Complicated with Multiple Deep Neck Abscess

Isolated submandibular suppurative sialadenitis occurring in the neonatal period is extremely rare. At present, only 15 cases of isolated submandibular sialadenitis in the neonatal period have been reported in the literature. We report a rare case of multiple deep neck abscess in association with both submandibular suppurative sialadenitis in a term neonate.

Epidemiology and Clinical Outcomes in Children with Aplastic Anemia in Korea: Retrospective Study / 대한소아혈액종양학회지

PURPOSE: The annual incidence of aplastic anemia (AA) in Asian countries is higher than in Western countries. The pathogenesis in AA has been investigated in hematopoiesis and immunology. Recently, the survival rate and the quality of life of the patients with AA have been steadily improved by the development of a variety of treatments such as the immunosuppressive therapy (IST), and hematopoietic stem cell transplantation (HSCT). The Korean Society of Pediatric Hematology-oncology retrospectively investigated the incidence, treatment strategies, survival rate, and time to become independent from transfusion in patients with AA, who were diagnosed from January 1st, 1991 to December 31st, 2000 in Korea. METHODS: All the questionnaires were sent to a group of training hospitals, and we collected about 600 questionnaire forms from 27 hospitals. However, 493 reports were available for data analysis. RESULTS: The male and female ratio in AA is 1.1 (259 males vs. 234 female). The median age at diagnosis is 9 years old (range; 0.8~16 years old). The annual incidence of children with AA in Korea is 4.5 per million on the basis of Korean pediatric population. In etiology, there are 20 cases (4.1%) in congenital and others in acquired AA. In acquired AA, the cause of illness was not identifiable for most of the patients, but 1 patient had hepatitis-associated AA, and 3 patients developed the illness after medication. According to the initial laboratory data at diagnosis, the peripheral blood findings showed that hemoglobin is 7.1+/-2.4 g/dL, white blood cell 3, 200/microL (200~16, 550), absolute neutrophil counts 670/microL (0~12, 487), platelets 19, 000/microL (1, 000~500, 000), and corrected reticulocytes 0.18% (0.0~4.7). The bone marrow examination revealed that cellularity was below 25% in 348 patients, and over 25% in 105 patients. In the available data, 269 patients (54.6%) were diagnosed of severe aplastic anemia (SAA) and 224 patients of non-SAA (NSAA). HSCT were done for 96 patients (19.5%) and others received another treatments such as the IST. The anti-thymocyte globulin (ATG) or anti-lymphocyte globulin (ALG) treatment was done for 263 cases, corticosteroids for 259, cyclosporine A (CSA) for 215, and anabolic steroids for 138. The combination IST including ATG or ALG plus corticosteroid plus CSA were applied to 154 children with AA, and transfusion only in 37, as conservative care. In case of those patients with HSCT, the time from diagnosis to transplantation was 12 months (1~144 months) and the sources of stem cells were bone marrow in 82 cases, growth factor mobilized peripheral blood in five, and cord blood in six. There were 57 patients transfused below 40 units of blood products before HSC transplantation. Graft rejection was identified from 16 patients, and booster transplantations were done for 12 patients among them. In complications of HSCT, the graft versus host disease was developed in 20 patients and viral diseases in 12 cases including the CMV, herpetic infection, and hepatitis. Also, one patient suffered from veno-occlusive disease. The overall survival rate in children with AA is 64.3%. The survival rate in HSCT is better than that IST (76.9% vs. 62.6%, P< 0.05). In IST, overall survival rate in very SAA showed lower than SAA and NSAA, and in SAA lower than NSAA in case of absolute neutrophil count below 200/microL (P< 0.05). There was no significant difference in terms of the sex, age at beginning of treatment. In HSCT, transfusion was not related to the survival rate. However, overall survival rate is better in short interval between diagnosis and HSCT than in long interval (P< 0.05). There was no significant difference in the probability of transfusion independence according to treatment strategies, even though it was 71.0% in HSCT and 12.8% in immunosuppressive therapy at the end point of survey (P=0.47). The response pattern was as follows. There were 155 cases of complete response, 110 of partial response and 120 of no response in spite of various treatments. The relapse after treatment was found in 11 patients after IST, of which 6 patients experienced more than 2nd relapse. The median time between the end of treatment and relapse was 16 months (6~84 months). Only three cases developed into other diseases (1 case into acute myeloid leukemia and 2 cases into myelodysplastic syndrome). The median time from diagnosis to the end of treatment was 62 months (0.5~174 months). In fatal cases, the median time between diagnosis and death was 29 months (0~144 months) despite several therapeutic strategies. CONCLUSION: In Korea, the annual incidence of children with AA is 4.5 per million. This result is similar to the ones reported in other Asian countries, but higher than those in Western countries. Although a lot of children with AA received various therapies including IST or HSCT, new treatment strategies have to be developed to improve the survival rate and the quality of life of children with AA

Epidemiology and Clinical Outcomes in Children with Malignant Lymphoma in Korea: Retrospective Study / 대한소아혈액종양학회지

PURPOSE: Malignant lymphoma is the primary malignant tumor derived from lymphoid organs. It is composed of Hodgkin's disease and non-Hodgkin lymphoma. Recently, survival rate is on the rise due to improved combination chemotherapy, radiotherapy and high dose chemotherapy followed by hematopoietic stem cell transplantation. In South Korea, no epidemiologic studies concerning malignant lymphoma in the pediatric age group has been performed. Therefore, the Korean Society of Pediatric Hematology-Oncology retrospectively analyzed the incidence, pathologic subtypes, treatment strategies, and survival rates of pediatric malignant lymphomas in South Korea. METHOD: Questionnaires were made and sent to a group of training hospitals, with a return of 580 questionnaires from 24 hospitals. Among them, 517 reports were suitable for analysis. RESULTS: Among the 517 cases, Hodgkin's disease accounted for 58 cases and non-Hodgkin's lymphoma for 459 cases. Male to female ratio for malignant lymphoma was 2.7. Mean age at diagnosis was 8.3 years. Among the pathologic subtypes, mixed cellularity was the most frequent subtype for Hodgkin's disease. Most (70.7%) cases of non-Hodgkins lymphoma belonged to high grade NHL. Burkitt lymphoma accounted for 102 cases, and lymphoblastic lymphoma was found in 58 cases. Peripheral lymphadenopathy was the most common presenting sign upon diagnosis. B symptoms were significantly more frequent in Hodgkin's disease patients than in non-Hodgkin lymphoma patients. The Complete response rate was 62.1% for non-Hodgkin's lymphoma, and 82.8% for Hodgkin's disease. Overall 5 year survival rate was 60.0% in non-hodgkin's lymphoma, and 84.8% in Hodgkin's disease. CONCLUSION: The annual incidence of malignant lymphoma in Korea is 4.7 per million. In cases of chemotherapy-sensitive, refractory or relapsed malinant lymphoma, high dose chemotherapy followed by hematopoietic stem cell transplantation is vital for improved survival. For more systematic analysis of epidemiology on malignant lymphomas, better surveillance mechanisms on the occurrence of malignant lymphomas are crucial, and establishment of standardized treatment protocol for malignant lymphoma is required.

A Case of Acute Sensorineural Hearing Loss as an Initial Manifestation in a Child with Acute Lymphoblastic Leukemia / 대한소아혈액종양학회지

Acute sensorineural hearing loss is unusual as initial manifestations in a child with acute lymphoblastic leukemia (ALL), even though facial or oculomotor nerve palsy as early finding of leukemia was reported. The pathology of sensorineural hearing loss in leukemia showed as leukemic cell infiltration, hemorrhage, infection, and local ischemia due to hyperviscosity. A 12-year-old boy with ALL was admitted due to multiple cervical lymphadenopathy with left sided sensorineural deafness. He complained gross hematuria and purpura on whole body. His initial complete blood cell counts were hemoglobin 11.9 g/dL, hematocrit 34.3%, white blood cells 164,000/muL (segmented neutrophils 3%, lymphocytes 11%, monocytes 2%, immature blast 84%), and platelet 28,000/muL. Pure tone audiogram revealed profound sensorineural hearing loss of the left ear at all frequencies. His brain MRI showed no definite abnormal findings without hemorrhage or infarction in inner ear or temporal lobe. He received induction chemotherapy and total 4 times of transtympanic steroid injection with 1 week interval. His hearing power at complete remission was more improved than admission, but not completely recovered until 5 months. We proposed that hearing impairment might be an initial manifestation in acute leukemia with hyperleukocytosis.

Two Cases of Postobstructive Pulmonary Edema / 대한이비인후과학회지

Pulmonary edema is a potentially life-threatening complication of acute airway obstruction. Occasionally, patients experience sudden, unexpected and severe pulmonary edema during treatment of upper airway obstruction. Two forms of postobstructive pulmonary edema (POPE) have been identified. Type I POPE follows a sudden, severe episode of upper airway obstruction and type II POPE develops soon after the relief of chronic upper airway obstruction. The pathogenesis of POPE is multifactorial. The application of moderate continuous positive airway pressure in conjunction with the administration of diuretics usually clears pulmonary edema in these clinical settings within 24 hours. Awareness of this uncommon condition is crucial for the otolaryngologist to make an early diagnosis and initiate successful treatment. We present two cases of postobstructive pulmonary edema after treatment for upper airway obstruction.

The Distribution of Adenoid Mast Cells related to Otitis Media with Effusion / 대한이비인후과학회지

BACKGROUND: OME is a multifactorial disease. It has long been recognized that eustachian tube dysfunction or obstruction predisposes to OME. Some researchers suggested that histamine released from adenoid mast cell, is another possible factor for eustachian tube dysfunction. But, it is controvertial that the increased population of adenoid mast cell in patients with OME. MATERIALS AND METHODS: 38 of children who were done tonsillectomy and adenoidectomy with or without insertion of ventilation tube, were the subjects of this study. The mast cells were identified and counted in the tonsillectomy specimens and adenoidectomy specimens. Total IgE was measured in the serum of each patient with PRIST. RESULTS: The population of adenoid mast cell was increased in the OME group than control group. But, the population of tonsillar mast cell, and serum total IgE were not associated with OME. CONCLUSIONS: Increased population of adenoid mast cell was related to the pathogenesis of OME.

Quantitative Analysis of Myosin Heavy Chain (MHC) mRNA expression in Thyropharyngeus muscle and Cricopharyngeus muscle in Rats / 대한이비인후과학회지

BACKGROUNDS: The inferior pharyngeal constrictor muscle (IPC), which consists of the thyropharyngeus (TP) and cricopharyngeus (CP) muscles, plays an important role during deglutition, but their function is different when analysed by radiographic, manometric and electromyographic studies. OBJECTIVES AND MATERIALS: The purpose of this study is to quantify the expression levels of MHC mRNA isoforms (2B, 2X, 2A, 2L, beta-cardiac, neonatal and embryonic) in thyropharyngeus and cricopharyngeus muscles of rats using competitive PCR. RESULTS: The thyropharyngeus muscle was mainly consisted of three fast-twitching MHC isoforms, mostly 2X isoform (85.2%). On the other hand, the cricopharyngeus muscle contained two-third of fast-twitching isoforms(65.1%) and one-third of neonatal MHC(34.9%). CONCLUSIONS: The thyropharyngeus muscle could be characterized as a fast-twitching muscle and the cricopharyngeus muscle is probably considered as a sarcomeric regenerating muscle that is caused by frequently mechanical damage on deglutition.

Three Cases of Ossifying Fibroma of the Facial Bones / 대한이비인후과학회지

Ossifying fibroma is a diagnostic designation for fibro-osseous lesion characterized by osteoid rims and osteoblasts lying in irregularly shaped bony trabeculae. We experienced 3 cases of pathologically proven ossifying fibroma. One occured in the gingivobuccal area of an 10-year-old male; another involving the maxillary sinus and alveolus of 22-year-old female and the last one in the ethmoid sinus of 31-year-old female which is unique in its presentation as a cystic mass. Total or near total excision resulted in a disease-free follow-up period of 11 to 26 months. It appeared that ossifying fibroma is demarcated from adjacent cancellous bone and when growing beyond the confines of the involved bone, is separated from the adjacent soft tissue by an expanded and attenuated layer of cortical bone.