No abstract available.
Aortic Stenosis, Supravalvular*

No abstract available.
Flail Chest*

PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. MATERIALS AND METHODS: We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. RESULTS: 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. CONCLUSION: It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.
Bone Density ; Chromosome Aberrations ; Comorbidity ; Congenital Abnormalities ; Diabetes Mellitus ; Extremities ; Genetic Association Studies ; Growth Disorders ; Hair ; Hearing ; Heart Diseases ; Humans ; Hyperlipidemias ; Karyotype ; Korea ; Metacarpal Bones ; Monosomy ; Mosaicism ; Neck ; Nevus, Pigmented ; Osteochondrodysplasias ; Palate ; Phenotype ; Puberty, Delayed ; Scoliosis ; Sex Chromosomes ; Sexual Infantilism ; Thorax ; Turner Syndrome ; X Chromosome

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.
Codon, Nonsense ; Factor VIII ; Hand ; Hemophilia A ; Hemorrhage ; Humans ; Introns ; Isoantibodies ; Mutation, Missense ; Phenotype ; Risk Factors

BACKGROUND: The immune thrombocytopenia (ITP) criteria were newly standardized by the International Working Group. Thus, we analyzed the natural course of childhood chronic ITP to predict the prognosis based on the revised criteria. METHODS: The medical records of children with chronic ITP from May 2000 to February 2013 in our institute were reviewed. RESULTS: Forty-seven children with chronic ITP who were not undergoing corticosteroid therapy were included. Their initial platelet count was 23+/-25x10(9)/L, and age at diagnosis was 6.3+/-4.1 years. The follow-up period was 5.4+/-3.7 years. Among them, 44.7% (21/47) showed spontaneous remission and maintained a platelet count > or =100x10(9)/L. And 66.0% (31/47) maintained a platelet count > or =50x10(9)/L until the last follow-up date. The time periods required for the platelet count to be maintained > or =50x10(9)/L and > or =100 x10(9)/L were 3.1+/-2.7 and 3.6+/-2.7 years. Age at diagnosis in the > or =50x10(9)/L group (5.7+/-4.4 years) was significantly lower than the age at diagnosis in the <50x10(9)/L group (7.4+/-3.3 years) (P=0.040). And follow-up period was the factor influencing prognosis between the > or =100x10(9)/L group and <50x10(9)/L group (P=0.022). CONCLUSION: Approximately 45% of children with chronic ITP recovered spontaneously about 3-4 years after the diagnosis and 2/3 of patients maintained a platelet count > or =50x10(9)/L, relatively safe state. Age at diagnosis of ITP and follow-up period were the factors influencing prognosis in this study.
Child ; Diagnosis ; Follow-Up Studies ; Humans ; Medical Records ; Platelet Count ; Prognosis ; Remission, Spontaneous ; Thrombocytopenia*

Solid pseudopapillary tumors of the pancreas (SPTPs) are rare tumors with limited malignant potential; they are mainly diagnosed in young women. Complete surgical resection of the tumor is usually possible and patients have an excellent prognosis. However, local invasion and distant metastases have been reported in about 10-20% of patients with SPTPs; these patients require supplementary management for long-term survival. Here, we report a pediatric patient with inoperable SPTP unresponsive to neoadjuvant chemotherapy using cisplatin, ifosfamide, and etoposide which had spread to other organs. Subtotal resection of the primary tumor, radiofrequency ablation, radiotherapy, and adjuvant chemotherapy using gemcitabine were done to control this progressive SPTP.
Chemotherapy, Adjuvant ; Cisplatin ; Deoxycytidine ; Etoposide ; Female ; Humans ; Ifosfamide ; Neoplasm Metastasis ; Pancreas ; Prognosis

OBJECTIVES: This study explored the association between dietary and suicidal behaviors of Korean adolescents and investigated differences in this association in children of immigrant parents. METHODS: The sample (n=368,138) was collected from the Korea Youth Risk Behavior Survey from 2015 to 2020. Participants who agreed to provide family information (n=313,689) were classified according to their parents’ nationality. The study variables were 11 self-reported dietary behaviors, and their composite dietary behaviors (i.e., nutrient deprivation and unhealthy food consumption) that resulted from principal component analysis. The association between study variables and suicide-related outcomes (i.e., suicidal ideation, suicide planning, and suicide attempts) was analyzed by multiple logistic regression with adjustment for covariates. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated. RESULTS: Participants who skipped key meals and foods were more likely to have attemped suicide (aOR [95% CI]: skipping breakfast ≥5 days/wk, 1.28 [1.21 to 1.35]; consuming fruits <1 times/wk: 1.42 [1.32 to 1.52]; consuming vegetables <1 times/wk: 1.72 [1.53 to 1.93]; consuming milk <3 times/wk: 1.07 [0.99 to 1.16]). The associations were prominent in third culture kids (TCKs) (aOR [95% CI]: 2.23 [1.61 to 3.09]; 2.32 [1.61 to 3.35]; 2.63 [1.50 to 4.60]; 1.69 [1.09 to 2.63], respectively). Participants who consumed unhealthy foods (fast food, caffeinated and sugary drinks) more frequently were more likely to have attempted suicide (aOR, 1.55; 95% CI, 1.38 to 1.73). This association was also more prominent in TCKs (aOR, 2.08; 95% CI, 1.08 to 4.01). CONCLUSIONS Our findings indicate a positive association between unfavorable dietary behaviors and outcomes related to suicide, and this association appears to be notable in adolescents with immigrant parents.

A case report described a 72-year-old man with a history of a deceased-donor liver transplantation (due to hepatitis B-associated end-stage liver cirrhosis) performed in 1994. The patient was diagnosed with renal cell carcinoma and pulmonary metastasis in 1997 and was successfully treated with radiofrequency ablation and thoracoscopic superior segmentectomy. There was no evidence of newly diagnosed metastatic lesions or recurrence until the 19th post-operative month. Gastric cancer was identified by endoscopy during a routine follow-up examination; the pre-pyloric antral lesion measured 1.5 cm in size and was histologically well-differentiated and confined to the submucosal layers on endoscopic ultrasound. Laparoscopic gastrectomy and lymph node dissection (D1 + beta) was successfully performed in March 2009, and the patient was discharged on the 5th post-operative day without complications. This suggests that laparoscopic surgery is one of the feasible methods for resection of gastric cancer in liver transplant patients.
Aged ; Carbamates ; Carcinoma, Renal Cell ; Endoscopy ; Follow-Up Studies ; Gastrectomy ; Hepatitis ; Humans ; Laparoscopy ; Liver ; Liver Transplantation ; Lymph Node Excision ; Mastectomy, Segmental ; Neoplasm Metastasis ; Organometallic Compounds ; Recurrence ; Stomach Neoplasms ; Transplants

No abstract available.

Sclerosing angiomatoid nodular transformation (SANT) of the spleen is extremely rare in pediatric patients. Here, we report the case of an 8-year-old boy with iron-deficiency anemia and a solitary splenic mass detected using US, CT, and MRI. The patient underwent partial splenectomy, and the final diagnosis was SANT. Herein, we discuss the radiological features of splenic SANT through a review of reported cases and the differential diagnosis of other primary splenic tumors.