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1.
Article | WPRIM | ID: wpr-835069

ABSTRACT

BACKGROUND/OBJECTIVES@#This study investigates correlations between circulating microRNAs (miRNAs) and obesity-related parameters among young women (aged 20–30 years old) in Korea. @*SUBJECTS/METHODS@#We analyzed TaqMan low density arrays (TLDAs) of circulating miRNAs in 9 lean (body mass index [BMI] 25 kg/m2) women. We also performed gene ontology (GO) analyses of the biological functions of predicted miRNA target genes, and clustered the results using the database for annotation, visualization and integrated discovery. @*RESULTS@#The TLDA cards contain 754 human miRNAs; of these, the levels of 8 circulating miRNAs significantly declined (> 2-fold) in obese subjects compared with those in lean subjects, including miR-1227, miR-144-5p, miR-192, miR-320, miR-320b, miR-484, miR-324- 3p, and miR-378. Among them, miR-484 and miR-378 displayed the most significant inverse correlations with BMI (miR-484, r = −0.5484, P = 0.0056; miR-378, r = −0.5538, P = 0.0050) and visceral fat content (miR-484, r = −0.6141, P = 0.0014; miR-378, r = −0.6090, P = 0.0017). GO analysis indicated that genes targeted by miR-484 and miR-378 had major roles in carbohydrate and lipid metabolism. @*CONCLUSION@#Our result showed the differentially expressed circulating miRNAs in obese subjects compared to lean subjects. Although the mechanistic study to reveal the causal role of miRNAs remains, these miRNAs may be novel biomarkers for obesity.

2.
Article in English | WPRIM | ID: wpr-892001

ABSTRACT

Background@#Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system. @*Methods@#From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group. @*Results@#Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83). @*Conclusion@#A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.

3.
Article | WPRIM | ID: wpr-831082

ABSTRACT

Purpose@#Adenocarcinoma is an extremely rare malignancy in the pediatric population. Research regarding pediatric adenocarcinoma is very rare in Korea. This study aimed to investigate the clinical features of pediatric adenocarcinomas of various primary organ sites in Korea. @*Materials and Methods@#Pediatric patients under 18 years, diagnosed with adenocarcinoma of various sites between January 1995 and December 2016, were included. We retrospectively reviewed patient and tumor characteristics and calculated survival estimates, reported as 5-year survival rate and 95% confidence interval. @*Results@#Of 80 patients (median age, 15 years; range, 10 to 17 years), 37 (46.3%) were men, and 24 (30%) had a family history of cancer or underlying disease relevant to malignancy. The cancer locations were the colon and rectum (n=32), ovaries (n=18), stomach (n=15), lung (n=4), small bowel (n=1), and other sites (n=10). Totally, 54.8% patients (42/77) had stage 3 or 4 disease. The median follow-up period was 2.0 years (range, 0 to 20.4). The 5-year overall survival estimate for all patients, and for those with stomach, colorectal, ovarian, and other cancer sites were 57.9%±11.5%, 58.2%±25.7%, 41.5%±18.2%, 87.5%±16.2%, and 64.0%±34.4%, respectively. The 5-year survival rate differed significantly between categories of adenocarcinomas into gastrointestinal (GI) (44.7%) and non-GI adenocarcinomas (78.8%) (p=0.007). The 5-year survival rate also differed significantly according to carcinoembryonic antigen level (69.3% in 3 ng/mL; p < 0.001). @*Conclusion@#In pediatric patients, adenocarcinomas arise from various organs and are often diagnosed at advanced stages. Large, prospective studies for their accurate clinical characteristics and prognostic factors are needed.

4.
Article in English | WPRIM | ID: wpr-899705

ABSTRACT

Background@#Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system. @*Methods@#From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group. @*Results@#Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83). @*Conclusion@#A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.

5.
Article in English | WPRIM | ID: wpr-765068

ABSTRACT

BACKGROUND: Improvements in perinatal intensive care have improved survival of extremely-low-birth-weight (ELBW) neonates, although the risk of acute abdomen has increased. The differential diagnosis resulting in abdominal surgery can be categorized into necrotizing enterocolitis (NEC), spontaneous intestinal perforation (SIP), meconium-related ileus (MRI), and meconium non-related ileus (MNRI). The purpose of this study was to review our experience with abdominal surgery for ELBW neonates, and to evaluate characteristics and prognosis according to the differential diagnosis. METHODS: Medical records of ELBW neonates treated between 2003 and 2015 were retrospectively reviewed. RESULTS: Of 805 ELBW neonates, 65 (8.1%) received abdominal surgery. The numbers of cases by disease category were 29 for NEC, 18 for SIP, 13 for MRI, and 5 for MNRI. Ostoma formation was performed in 61 (93.8%) patients; primary anastomosis without ostoma was performed in 4 (6.2%). All patients without ostoma formation experienced re-perforation of the anastomosis site. Seven patients had 30-day postoperative mortality (6 had NEC). Long-term survival of the surgical and non-surgical groups was not statistically different. NEC was a poor prognostic factor for survival outcome (P = 0.033). CONCLUSION: Abdominal surgery for ELBW neonates is feasible. Ostoma formation can lead to reduced complications compared to primary anastomosis.


Subject(s)
Abdomen, Acute , Critical Care , Diagnosis, Differential , Enterocolitis, Necrotizing , Humans , Ileus , Infant, Newborn , Intestinal Perforation , Magnetic Resonance Imaging , Meconium , Medical Records , Mortality , Prognosis , Retrospective Studies
6.
Article in English | WPRIM | ID: wpr-714432

ABSTRACT

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. METHODS: We enrolled 25 patients with CS, including 24 sporadic cases and one familial case. Direct sequencing of MNX1 and multiplex ligation-dependent probe amplification were performed. We also analyzed clinical phenotypes and evaluated genotype-phenotype correlations. RESULTS: We identified six novel variants amongst a total of six null variants, one missense variant, and one large deletion. The null variants included four frameshift variants (p.Gly98Alafs*124, p.Gly145Alafs*77, p.Gly151Leufs*67, and p.Ala216Profs*5) and two nonsense variants (p.Tyr186* and p.Gln212*). The missense variant, p.Lys295Gln, was located in the highly-conserved homeobox domain and was predicted to be deleterious. A large deletion involving the 7q36 region was detected in one patient. Pathogenic variants in MNX1 were detected in 28% of all CS cases and 25% of sporadic cases. The clinical phenotype was variable in patients with and without pathogenic variants; no significant genotype-phenotype correlation was observed. CONCLUSIONS: This study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.


Subject(s)
Genes, Homeobox , Genetic Association Studies , Humans , Motor Neurons , Multiplex Polymerase Chain Reaction , Pancreas , Phenotype
7.
Article in Korean | WPRIM | ID: wpr-740665

ABSTRACT

PURPOSE: Preoperative ultrasonography (USG) in pediatric inguinal hernia has controversy. In this study, we analyzed the cases of pediatric inguinal hernia with/without preoperative USG and discussed whether USG is necessary. METHODS: We reviewed medical records of 1,441 patients who underwent inguinal hernia repair in Seoul National University Children's Hospital between January 2011 and August 2016 retrospectively. RESULTS: Male were 69.3% and age at operation was 37.8±36.5 months old. There were 150 patients (10.4%) performed USG preoperatively. The department ordered to perform USG included department of surgery (n=71), emergency medicine (n=42), pediatrics (n=26), urology (n=10) and outside hospital (n=1). The reasons of performing USG included evaluation for hernia laterality (n=82), incarceration (n=28), testis (n=15), request of parents (n=14), scrotal mass (n=6) and incidentally found during evaluation for another disease (n=5). Excepting 5 cases of incidental finding, of 145 cases with USG, 12 (8.3%) cases changed the surgical plan; change to bilateral repair from unilateral repair (n=5), emergency operation due to incarceration (n=4) which include 1 salpingo-oophorectomy, 1 open abdomen surgery and 2 hernia repair after reduction of ovary, change to co-operation of orchiopexy (n=2) and change to laparoscopic surgery from open surgery due to herniation of both ovaries into one inguinal canal (n=1). In group without USG (n=1,291), 5 patients (0.4%) had unexpected problems during operation; 2 co-operation of orchiopexy because of transverse testicular ectopia (n=1) and right undescended testis (n=1), 2 hypertrophy of major labia and 1 retroperitoneal lymphangioma at inguinal area misdiagnosed as inguinal hernia. CONCLUSION: It was difficult to interpret the meaning of preoperative USG because not all patients had performed it. In this study, 10.4% of patients performed USG and 8.3% of them changed surgical plan. About 0.4% of patients without preoperative USG would have benefited from it for surgery if they had performed it. Since the percentage is too low, it is unreasonable to conclude that USG has diagnostic utility in inguinal hernia in this study.


Subject(s)
Abdomen , Child , Cryptorchidism , Emergencies , Emergency Medicine , Female , Hernia , Hernia, Inguinal , Herniorrhaphy , Humans , Hypertrophy , Incidental Findings , Inguinal Canal , Laparoscopy , Lymphangioma , Male , Medical Records , Orchiopexy , Ovary , Parents , Pediatrics , Retrospective Studies , Seoul , Testis , Ultrasonography , Urology
8.
Article in English | WPRIM | ID: wpr-740661

ABSTRACT

An 18-year-old male patient with cerebral palsy and scoliokyphosis came to the emergency department with abdominal distension and vomiting. He was a situs inversus patient with a feeding gastrostomy tube. Sigmoid volvulus was initially suspected, so rectal tube insertion and endoscopic decompression were attempted, but failed. So he went through explorative laparotomy, and transverse colonic adhesion and twisting around the gastrostomy tube and gastric wall was identified. Adhesiolysis and resection with redundant transverse colon and end-to-end colocolic anastomosis was performed. He discharged with symptom free. Suspecting transverse colonic volvulus is important when the patient has anatomical anomalies and feeding gastrostomy tube. Timely diagnosis with proper radiologic imaging should be made. Surgical resection of the redundant colon is needed for successful management of transverse colonic volvulus.


Subject(s)
Adolescent , Cerebral Palsy , Colon , Colon, Sigmoid , Colon, Transverse , Decompression , Diagnosis , Emergency Service, Hospital , Gastrostomy , Humans , Intestinal Volvulus , Laparotomy , Male , Scoliosis , Situs Inversus , Vomiting
9.
Article in English | WPRIM | ID: wpr-125184

ABSTRACT

PURPOSE: Soft tissue hemangioendothelioma (STHE) is a rare vascular tumor, which has a similar prognosis to borderline malignancy. The disease is poorly understood in pediatric cases because of its low incidence; therefore, we investigated treatment strategies for STHE in children. METHODS: We retrospectively analyzed 8 patients with STHE, who were pathologically confirmed between January 1995 and June 2015. The median duration of follow-up was 72 months. RESULTS: Five were male and the median age at the time of surgery was 1.2 years. Six patients presented with a palpable mass, and 2 patients experienced facial paralysis. The median tumor size was 4.0 cm. The following tumor locations were observed head (2 patients), neck (2 patients), chest wall (1 patient), sacrococcyx (1 patient), upper limb (1 patient), and lower limb (1 patient). The patients underwent either microscopic complete resection (R0) (3 patients), macroscopic complete resection (R1) (2 patients), or macroscopic incomplete resection (R2) (3 patients). After histopathological examination, 6 patients were diagnosed with kaposiform hemangioendothelioma (HE), one with retiform HE, and one with epithelioid HE. Postoperative sequelae occurred as gait disturbance, hearing impairment, and vocal cord palsy. Tumor recurrence or regrowth occurred in 4 patients. These patients underwent reoperation and IFN therapy; however, in the patient with epithelioid HE, metastasis to the scalp occurred after these therapies. The patient with the head tumor who underwent R2 resection, underwent resection three more times, but died 11 months after the first surgery. CONCLUSION: When treating STHE in children, R0 resection should be first considered, but recurrence and metastasis should be monitored depending on the size, pathology, and location of the lesion. When major sequelae are expected, function-preserving surgery could be considered, depending on tumor location, size, and nearby organs.


Subject(s)
Child , Facial Paralysis , Follow-Up Studies , Gait , Head , Hearing Loss , Hemangioendothelioma , Humans , Incidence , Lower Extremity , Male , Neck , Neoplasm Metastasis , Pathology , Prognosis , Recurrence , Reoperation , Retrospective Studies , Scalp , Soft Tissue Neoplasms , Thoracic Wall , Upper Extremity , Vocal Cord Paralysis
10.
Article in Korean | WPRIM | ID: wpr-125182

ABSTRACT

PURPOSE: Minimally invasive surgery (MIS) in abdomen and thorax has been widely accepted for pediatric diseases. Thoracoscopic surgery has the advantage of less pain, better cosmetic outcomes and less musculoskeletal sequelae in comparison to open surgery. We would like to share our initial experience with thoracoscopic surgery performed by one pediatric surgeon. METHODS: We performed a retrospective review of patients who underwent thoracoscopic surgery by one pediatric surgeon between April 2010 and August 2017 in Department of Pediatric Surgery, Seoul National University Children's Hospital. RESULTS: There were totally 18 cases; 8 cases for esophageal atresia, 3 cases for congenital diaphragm hernia, 2 cases for diaphragm eventration, 2 cases for esophageal duplication cyst, 2 cases for pleural mass and 1 case for esophageal bronchus. At the operation, median age was 9.5 months (range, 0-259 months) and median body weight was 9.4 kg (range, 1.9-49.4 kg). Median operative time was 157.5 minutes (range, 45-335 minutes). There was no case of open conversion and 2 cases of minor leakage at anastomosis site in case of esophageal atresia. Median follow-up month was 5 months (range, 0-87 months). During follow-up, 4 cases of esophageal atresia showed anastomosis site narrowing and average 2.5 times (range, 1-5 times) of esophageal balloon dilatation was done. CONCLUSION: We performed thoracoscopic surgery in case of esophageal, diaphragm disease and pleural mass. Thoracoscopic surgery can be an effective and feasible option of treatment for well-selected pediatric patients of intra-thoracic disease including esophagus, diaphragm and mediastinum disease.


Subject(s)
Abdomen , Body Weight , Bronchi , Diaphragm , Diaphragmatic Eventration , Dilatation , Esophageal Atresia , Esophagus , Follow-Up Studies , Hernia , Humans , Mediastinum , Minimally Invasive Surgical Procedures , Operative Time , Pediatrics , Retrospective Studies , Seoul , Thoracoscopy , Thorax
11.
Article in English | WPRIM | ID: wpr-88962

ABSTRACT

PURPOSE: Congenital esophageal atresia (CES) is a rare congenital disease. The severity of symptoms is variable; thus, diagnosis is difficult and tends to be delayed. CES is frequently accompanied by esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). We investigated the characteristics of CES by reviewing our experience with CES patients and researched the differences between CES with EA-TEF and isolated CES. METHODS: A total of 31 patients underwent operations for CES were reviewed retrospectively. The patients were divided into two groups according to the association with EA-TEF, and compared the differences. RESULTS: Sixteen boys and 15 girls were included. The mean age at symptom onset was 8 months old, and the mean age at diagnosis was 21 months old. Nine patients with EA-TEF were included group A, whereas the other 22 patients were assigned to group B. There were no differences in sex, gestational age, associated anomalies and pathologic results between the groups. In group A, the age at diagnosis and age at surgery were younger than in group B despite the age at symptom occurrence being similar. Postoperative complications occurred only in group A. CONCLUSION: In this study, symptoms occurred during the weaning period, and vomiting was the most frequent symptom. CES patients with EA-TEF tended to be diagnosed and treated earlier despite the age at symptom occurrence being similar. CES patients with EA-TEF had more postoperative complications; therefore, greater attention should be paid during the postoperative period.


Subject(s)
Child , Clinical Study , Diagnosis , Esophageal Atresia , Esophageal Stenosis , Female , Gestational Age , Humans , Postoperative Complications , Postoperative Period , Retrospective Studies , Tracheoesophageal Fistula , Vomiting , Weaning
12.
Article in Korean | WPRIM | ID: wpr-75907

ABSTRACT

PURPOSE: Thyroid cancer is a rare disease in pediatric population, but its incidence rate is increasing. The aim of this report is to present a single institution experience of pediatric thyroid cancer and to identify clinical features, predisposing factors, and postoperative course of pediatric thyroid cancer. METHODS: We retrospectively reviewed 35 pediatric patients who underwent operation due to thyroid cancer at Seoul National University Children's Hospital between May 1997 and January 2017. The median follow-up period was 70 months (range, 5–238 months). RESULTS: The mean age at operation was 12.0±5.91 years and 27 patients were female. The underlying conditions in patients included history of chemoradiotherapy for previous other malignancies (n=4), hypothyroidism (n=3), history of chemotherapy (n=2), family history of thyroid cancer (n=1) and history of radiation therapy (n=1). The initial symptoms were palpable neck mass (n=21) and incidental findings (n=11). Total thyroidectomy (n=30) or unilateral lobectomy (n=5) were performed. There were 15 postoperative complications including transient hypocalcemia in 14 patients and Horner's syndrome in 1 patient. The most common pathologic cell type was papillary thyroid cancer (n=29). Extrathyroid extension and lymph node invasion were found in 25 patients and 27 patients, respectively. Thirteen patients showed multifocality. During follow-up period, 5 patients underwent additional operation because of tumor recurrence in lymph nodes. Lung metastasis was detected in 3 patients at the time of diagnosis and in 3 patients during follow-up period. The mortality rate was zero and mean disease-free survival was 83.7±47.9 months. CONCLUSION: Pediatric thyroid cancer has lower mortality rate and recurrence rate as seen in this study despite the advanced stage at diagnosis. A thorough follow-up of patients with an underlying condition such as history of chemoradiotherapy and understanding new pediatric guideline can be helpful to maximize patients' survival and prognosis.


Subject(s)
Causality , Chemoradiotherapy , Diagnosis , Disease-Free Survival , Drug Therapy , Female , Follow-Up Studies , Horner Syndrome , Humans , Hypocalcemia , Hypothyroidism , Incidence , Incidental Findings , Lung , Lymph Nodes , Mortality , Neck , Neoplasm Metastasis , Pediatrics , Postoperative Complications , Prognosis , Rare Diseases , Recurrence , Retrospective Studies , Seoul , Thyroid Gland , Thyroid Neoplasms , Thyroidectomy
13.
Article in English | WPRIM | ID: wpr-75904

ABSTRACT

Anorectal duplications account for only 5% of gastrointestinal duplications, and cases with involvement of the anal canal are much rarer. Nearly all anorectal duplications are posterior to the rectum; duplications located anterior to the normal rectum are highly unusual, and only a few cases have been reported. We report the case of an anterior anorectocolonic duplication presenting as a rectovaginal fistula in a 2-month-old infant. After diagnosis, the duplication was excised completely without further intestinal complications.


Subject(s)
Anal Canal , Diagnosis , Fistula , Humans , Infant , Rectovaginal Fistula , Rectum
14.
Article in English | WPRIM | ID: wpr-156646

ABSTRACT

Necrotizing enterocolitis (NEC) characterized by inflammatory intestinal necrosis is a major cause of mortality and morbidity in newborns. Deep RNA sequencing (RNA-Seq) has recently emerged as a powerful technology enabling better quantification of gene expression than microarrays with a lower background signal. A total of 10 transcriptomes from 5 pairs of NEC lesions and adjacent normal tissues obtained from preterm infants with NEC were analyzed. As a result, a total of 65 genes (57 down-regulated and 8 up-regulated) revealed significantly different expression levels in the NEC lesion compared to the adjacent normal region, based on a significance at fold change ≥ 1.5 and P ≤ 0.05. The most significant gene, DPF3 (P < 0.001), has recently been reported to have differential expressions in colon segments. Our gene ontology analysis between NEC lesion and adjacent normal tissues showed that down-regulated genes were included in nervous system development with the most significance (P = 9.3 × 10⁻⁷; P(corr) = 0.0003). In further pathway analysis using Pathway Express based on the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, genes involved in thyroid cancer and axon guidance were predicted to be associated with different expression (P(corr) = 0.008 and 0.020, respectively). Although further replications using a larger sample size and functional evaluations are needed, our results suggest that altered gene expression and the genes' involved functional pathways and categories may provide insight into NEC development and aid in future research.


Subject(s)
Axons , Colon , Enterocolitis, Necrotizing , Gene Expression Profiling , Gene Expression , Gene Ontology , Genome , Humans , Infant, Newborn , Infant, Premature , Mortality , Necrosis , Nervous System , Pilot Projects , Sample Size , Sequence Analysis, RNA , Thyroid Neoplasms , Transcriptome
15.
Article in Korean | WPRIM | ID: wpr-167667

ABSTRACT

It has been known that extramedullary hematopoiesis occurring after birth can be developed in various diseases, and it is often found in hematologic diseases. Among these, congenital dyserythropoietic anemia is a rare disease characterized with increase of ineffective hematopoiesis and morphological abnormalities of erythroblasts. In congenital dyserythropoietic anemia, extramedullary hematopoiesis is very rare and only a few cases have been reported. Although treatment is not required if there is no symptom in extramedullary hematopoiesis, surgery or radiation therapy is effective in case that there is symptom or unresponsive anemia despite blood transfusion. This case report is about surgical treatment for extramedullary hematopoiesis in 23-year-old patients diagnosed of congenital dyserythropoietic anemia.


Subject(s)
Anemia , Anemia, Dyserythropoietic, Congenital , Blood Transfusion , Erythroblasts , Hematologic Diseases , Hematopoiesis , Hematopoiesis, Extramedullary , Humans , Parturition , Rare Diseases , Young Adult
16.
Article in Korean | WPRIM | ID: wpr-167666

ABSTRACT

A baby was diagnosed with esophageal atresia (EA) with tracheoesophageal fistula (TEF) on the next day after birth, and end-to-end anastomosis of esophagus with TEF ligation was performed. The distance between proximal and distal esophageal pouch was checked as 3 vertebral body lengths and a 1 cm-sized bronchogenic cyst (BC) was identified near carina on the right side, just below the proximal esophageal pouch. This case report described the baby who have a BC was located between the both esophageal pouch and a longer esophageal gap than usual EA with distal TEF.


Subject(s)
Bronchogenic Cyst , Esophageal Atresia , Esophagus , Ligation , Parturition , Tracheoesophageal Fistula
17.
Article in English | WPRIM | ID: wpr-58127

ABSTRACT

Mixed acinar-neuroendocrine carcinoma (MANEC) is a malignant pancreatic tumor that rarely occurs in children. It is diagnosed pathologically according to the proportion of neuroendocrine cells present, highlighting the need for surgical biopsy. A 13-year-old boy presented with a 10-cm palpable mass on CT. Surgical resection was performed, and the pathological diagnosis was MANEC. There were no postoperative complications, and the patient was discharged from the hospital 10 days after surgery. He is presently undergoing adjuvant chemotherapy. We reviewed historical MANEC cases published in the English literature. We concluded that pathological analysis of a surgically resected specimen is necessary for an accurate diagnosis of MANEC, and that publication of more cases is needed to determine the optimal management strategy for MANEC.


Subject(s)
Adolescent , Biopsy , Carcinoma, Acinar Cell , Carcinoma, Neuroendocrine , Chemotherapy, Adjuvant , Child , Diagnosis , Humans , Immunohistochemistry , Male , Neuroendocrine Cells , Postoperative Complications , Publications , Surgical Procedures, Operative
18.
Article in English | WPRIM | ID: wpr-59523

ABSTRACT

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Mullerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Mullerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Mullerian duct anomaly without MNX1 gene mutation, along with a brief literature review.


Subject(s)
Genes, Homeobox , Humans , Mothers , Motor Neurons , Mullerian Ducts , Nuclear Family , Pancreas , Uterus , Vagina
19.
Article in English | WPRIM | ID: wpr-48269

ABSTRACT

Pediatric arterial aneurysm is rare disease. Among them, idiopathic-congenital arterial aneurysm is extremely rare. This is a case report of right common iliac artery idiopathic aneurysm with absence of right external iliac artery. A 4-year-old girl who had been complaining of intermittent abdominal pain since 2 years prior presented with a right lower abdominal mass that had been palpable since 6 months prior. Abdominal CT revealed a 5.2 cm × 4.5 cm × 5.1 cm, right-sided, partially thrombosed, saccular, iliac artery aneurysm. She underwent to operation, aneurismal resection. A pathological examination confirmed that it was a true aneurysm, considering that all layers of the vascular wall were stretched with no deficit. The patient was discharged 3 days after the surgery without any complication. Five months passed since the surgery, and the patient is doing well without any abdominal or leg pain.


Subject(s)
Abdominal Pain , Aneurysm , Child , Child, Preschool , Female , Humans , Iliac Aneurysm , Iliac Artery , Leg , Rare Diseases , Tomography, X-Ray Computed , Vascular Surgical Procedures
20.
Article in English | WPRIM | ID: wpr-27972

ABSTRACT

PURPOSE: Number of pediatric cholecystectomy has been recently showing a gradually increasing trend. The purpose of this study was to investigate the clinical features of patients who underwent pediatric cholecystectomy, and the latest trend in cholecystectomy. METHODS: In the present study, we conducted a retrospective chart review on 47 patients who had undergone cholecystectomy at a single center. The entire patient population was divided into two groups, according to the time of cholecystectomy (early group, January 1999 to December 2006; late group, January 2007 to August 2014). RESULTS: The comparison between the early and late groups showed that the number of cholecystectomy increased from 13 to 34 cases representing a 2.6-fold increase. The mean patient age also increased from 5.94±4.08 years to 10.51±5.57 years (p=0.01). Meanwhile, laparoscopic surgery also increased from 15.4% to 79.4%, respectively (p<0.001). However, sex, mean body mass index, comorbidities, indications of cholecystectomy, and previous total parenteral nutrition were not statistically significant. CONCLUSION: The results of this study showed that pediatric cholecystectomy cases are increasing, particularly in the 10 to 19 years age group and laparoscopic cholecystectomies are also being performed at an increasing rate. When the patients were compared according to the time of cholecystectomy, there were no differences in other risk factors or indications for cholecystectomy.


Subject(s)
Body Mass Index , Cholecystectomy , Cholecystectomy, Laparoscopic , Cholelithiasis , Comorbidity , Humans , Laparoscopy , Parenteral Nutrition, Total , Retrospective Studies , Risk Factors
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