Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome / 소아과

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

Alteration of NOTCH1 in T-cell Acute Lymphoblastic Leukemia and Development of Target Therapeutic Agent / 임상소아혈액종양

T-cell acute lymphoblastic leukemia (T-ALL) accounts for approximately 10-15% of entire ALL in children. The outcome of T-ALL has been improved through the intensified therapeutic strategy, however, it is still a more aggressive disease. In T-ALL a couple of transcription factor oncogenes are known to be relocated to the juxtaposition of T-cell receptor genes, potent promoter, by chromosome translocation. However the incidence of each chimeric gene formation in T-ALL is less than 5% and their clinical significance as a prognostic marker is lacking. A decade ago it was identified that activating mutations in NOTCH1 in about 60% of T-ALL. After then, activating NOTCH1 mutations present in T-ALL have been extensively investigated with regard to understanding its molecular pathogenesis, its prognostic significance, and developing molecularly tailored novel agents. Small molecule gamma-secretase inhibitor, blocking a proteolytic step required for creation of a fragment of NOTCH intracellular domain which actually act as a controller of its target gene expression, was tried as a target therapeutic drug for T-ALL. Although outcome of this drug was not satisfactory, challenges have been launched to develop new drugs which specifically act on the aberrant behavior of mutated NOTCH1 in T-ALL.

Alteration of NOTCH1 in T-cell Acute Lymphoblastic Leukemia and Development of Target Therapeutic Agent / 임상소아혈액종양

T-cell acute lymphoblastic leukemia (T-ALL) accounts for approximately 10-15% of entire ALL in children. The outcome of T-ALL has been improved through the intensified therapeutic strategy, however, it is still a more aggressive disease. In T-ALL a couple of transcription factor oncogenes are known to be relocated to the juxtaposition of T-cell receptor genes, potent promoter, by chromosome translocation. However the incidence of each chimeric gene formation in T-ALL is less than 5% and their clinical significance as a prognostic marker is lacking. A decade ago it was identified that activating mutations in NOTCH1 in about 60% of T-ALL. After then, activating NOTCH1 mutations present in T-ALL have been extensively investigated with regard to understanding its molecular pathogenesis, its prognostic significance, and developing molecularly tailored novel agents. Small molecule gamma-secretase inhibitor, blocking a proteolytic step required for creation of a fragment of NOTCH intracellular domain which actually act as a controller of its target gene expression, was tried as a target therapeutic drug for T-ALL. Although outcome of this drug was not satisfactory, challenges have been launched to develop new drugs which specifically act on the aberrant behavior of mutated NOTCH1 in T-ALL.

Clinical Features of Symptomatic Meckel's Diverticulum in Children: Comparison of Scintigraphic and Non-scintigraphic Diagnosis / 대한소아소화기영양학회지

PURPOSE: Meckel's diverticulum (MD) has various clinical manifestations, and diagnosis or selectection of proper diagnostic tools is not easy. This study was conducted in order to assess the clinical differences of MD diagnosed by scintigraphic and non-scintigraphic methods and to find the proper diagnostic tools. METHODS: We conducted a retrospective review ofthe clinical, surgical, radiologic, and pathologic findings of 34 children with symptomatic MD, who were admitted to Gachon University Gil Medical Center, Inha University Hospital, and The Catholic University of Korea, Incheon St. Mary's Hospital between January 2000 and December 2012. The patients were evaluated according to scintigraphic (12 cases; group 1) and non-scintigraphic (22 cases; group 2) diagnosis. RESULTS: The male to female ratio was 7.5 : 1. The most frequent chief complaint was lower gastrointestinal (GI) bleeding in group 1 and nonspecific abdominal pain in group 2, respectively. The most frequent pre-operative diagnosis was MD in both groups. Red blood cell (RBC) index was significantly lower in group 1. MD was located at 7 cm to 85 cm from the ileocecal valve. Four patients in group 1 had ectopic gastric tissues causing lower GI bleeding. The most frequent treatment modality was diverticulectomy in group 1 and ileal resection in group 2, respectively. CONCLUSION: To diagnose MD might be delayed unless proper diagnostic tools are considered. It is important to understand indications of scintigraphic and non-scintigraphic methods according to clinical and hematologic features of MD. Scintigraphy would be weighed in patients with anemia as well as GI symptoms.

Correction: Clinical Features of Symptomatic Meckel's Diverticulum in Children: Comparison of Scintigraphic and Non-scintigraphic Diagnosis / 대한소아소화기영양학회지

The name "Sung Min Kim" should be "Seong Min Kim" and "Yoon Mi Kim" should be "Yun Mi Kim".

The Comparison of Clinical Characteristics and Courses of Pediatric Patients Hospitalized with Pandemic Influenza A (H1N1) and Seasonal Influenza from 2009 to 2011 / 소아알레르기및호흡기학회지

PURPOSE: Pandemic influenza viruses have caused significant morbidity and mortality. Pandemic influenza A (H1N1) was detected in April 2009 and caused worldwide outbreak. We investigated the differences in clinical characteristics and courses between pandemic and seasonal influenzas. METHODS: We reviewed the medical records of pediatric patients, (< or =18 years) with influenza hospitalized to Gachon University Gil Medical Center from the 1 April 2009 to the 31 August 2011. RESULTS: Two hundred twenty-six patients with pandemic influenza and 118 patients with seasonal influenza were included. Age, sex, and proportion of underlying diseases were similar between the two groups. Hypoxemia, shortness of breath, and tachypnea were more common in pandemic influenza.(P<0.05) Oxygen supplementation and radiologically confirmed pneumonia were more common in pandemic influenza.(P<0.005) However, there were no significant differences in the mean duration of hospitalization, proportion of patients admitted to the intensive care unit, need for mechanical ventilation, and death. CONCLUSION: Pandemic influenza caused more frequently lower respiratory tract infection and pneumonia. However, the courses of pandemic influenza were not different from those of seasonal influenza; probably, due to the effects of several factors, including antiviral therapy.

Effect of weight gain during the pregnancy on success of vaginal birth after cesarean delivery (VBAC) / 대한주산의학회잡지

PURPOSE: To examine the relationship between weight gain and the success of VBAC by using body mass index (BMI). To examine the relationship between weight gain and the success of VBAC by using body mass index (BMI). METHODS: The study compared clinical features taken from 112 patients who tried VBAC at our institute from January 2001 through December 2006. There were divided into two GROUPS: 92 patients for the success (82.1%) and 20 patients for the failure group (17.9%). Excluding 36 patients with no BMI data, we constructed Receive-operating characteristics (ROC) curve to make the optimum BMI value for the prediction of success of VBAC. Based on the BMI 26 or more, two groups of patient were surveyed the interrelation between weight gain and success of VBAC. RESULTS: Between success and failure group, the weight gain during pregnancy showed significant differences which are 11.2+/-4 kg of the success group and 13.2+/-5 kg of the other one (p<0.05) A survey on the availability of the BMI date to estimate success of VBAC, the criteria with the standard BMI 26 is not statistically valuable (p=0.837). By comparing normal weight and overweight based on BMI 26, some factors showed statistically significant discrepancies: number of prenatal visit, maternal weight gain, maternal weight at the time of delivery, use of oxytocin and birth weight. CONCLUSION: BMI value of 26 has limitations in using as an estimate criteria on success of VBAC. Patients, however, who had relatively small scale of weight gain, showed significant clinical factors to increased success rate of VBAC.