Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered trio genotypes that encompass three generations are available, it narrows a recombination event down to a region between two consecutive heterozygous markers. In addition, the phase information that is inferred from the upper trio that is formed by one of the parents and grandparents can be propagated to phase the genotypes of the lower trio that is formed by the parents and an offspring.
Boidae ; Family Characteristics ; Genotype ; Humans ; Parents ; Pedigree ; Recombination, Genetic ; Software ; Wills

PURPOSE: Hepatocellular carcinoma (HCC) is a rarely occurring disease in the pediatric population. We report our center's experience of management of HCC in children and adolescents. METHODS: From 1996 to 2012, 16 patients aged 18 or younger were diagnosed with HCC at our center. The medical records of these 16 patients were retrospectively reviewed. RESULTS: There were 9 boys and 7 girls. Median age at diagnosis of HCC was 14.5 years. All patient had pathologically confirmed diagnosis of HCC. Three patients had distant metastasis at the time of HCC diagnosis. Eight patients were surgically managed, including 4 liver resections, 3 liver transplantations, and 1 intraoperative radiofrequency ablation. The remaining 8 patients received systemic chemotherapy. Overall, 6 patients are alive at median 63.6 months after diagnosis of HCC. All survivors were surgically managed patients. CONCLUSION: HCC is a rare disease occurring in childhood. Patients with systemic disease have poor outcome. Liver transplantation may be a good option for treatment of pediatric HCC.
Adolescent* ; Carcinoma, Hepatocellular* ; Catheter Ablation ; Child* ; Diagnosis ; Drug Therapy ; Female ; Humans ; Liver ; Liver Transplantation ; Medical Records ; Neoplasm Metastasis ; Pediatrics ; Rare Diseases ; Retrospective Studies ; Survivors

Fertility preservation (FP) is an effort to retain the fertility of cancer patients, and as an emerging discipline, it plays a central role in cancer care. Because of improvement in diagnostic and therapeutic strategies, an increasingly large number of patients are surviving with cancer. FP specialists should make an effort to spread the significance of FP among reproductive women with cancer and provide appropriate education both for associated physicians and for cancer patients who wish to preserve their fertility. Physicians who take part in the initial diagnosis and management of cancer should consider the importance of early referral of young cancer patients to FP specialists and take care of those patients by providing timely information and appropriate counseling. Individualized treatment strategies should be delivered depending on the patient's situation with appropriate team approach.
Counseling ; Female ; Fertility ; Fertility Preservation ; Humans ; Referral and Consultation ; Specialization

BACKGROUND: Few studies have evaluated the long-term impact of postoperative infectious complications in patients with non-small cell lung cancer (NSCLC). We aimed to determine the impact of infectious complications on long-term outcomes after surgical resection for NSCLC. METHODS: We performed a retrospective study of 1,380 eligible patients who underwent pulmonary resection for NSCLC from 2003 to 2012. Complications were divided into infectious complications and non-infectious complications. Kaplan-Meier survival analysis was used to compare unadjusted 5-year cancer-specific survival (CSS) rates and recurrence-free survival (RFS) rates. Cox regression was used to determine the impact of infectious complications on 5-year CSS and RFS. RESULTS: The rate of total complications and infectious complications was 24.3% and 4.3%, respectively. In the node-negative subgroup, the 5-year CSS and RFS rates were 75.9% and 57.1% in patients who had infectious complications, compared to 87.9% and 78.4% in patients who had no complications. Infectious complications were a negative prognostic factor for 5-year RFS (hazard ratio, 1.92; 95% confidence interval, 1.00–3.69; p=0.049). In the node-positive subgroup, the 5-year CSS rate and RFS were 44.6% and 48.4% in patients who had infectious complications, compared to 70.5% and 48.4% for patients who had no complications. CONCLUSION: Postoperative infectious complications had a negative impact on CSS and RFS in node-negative NSCLC. Our findings may help improve risk assessment for tumor recurrence after pulmonary resection for node-negative NSCLC.
Carcinoma, Non-Small-Cell Lung ; Humans ; Prognosis ; Recurrence ; Retrospective Studies ; Risk Assessment

BACKGROUND: Few studies have evaluated the long-term impact of postoperative infectious complications in patients with non-small cell lung cancer (NSCLC). We aimed to determine the impact of infectious complications on long-term outcomes after surgical resection for NSCLC. METHODS: We performed a retrospective study of 1,380 eligible patients who underwent pulmonary resection for NSCLC from 2003 to 2012. Complications were divided into infectious complications and non-infectious complications. Kaplan-Meier survival analysis was used to compare unadjusted 5-year cancer-specific survival (CSS) rates and recurrence-free survival (RFS) rates. Cox regression was used to determine the impact of infectious complications on 5-year CSS and RFS. RESULTS: The rate of total complications and infectious complications was 24.3% and 4.3%, respectively. In the node-negative subgroup, the 5-year CSS and RFS rates were 75.9% and 57.1% in patients who had infectious complications, compared to 87.9% and 78.4% in patients who had no complications. Infectious complications were a negative prognostic factor for 5-year RFS (hazard ratio, 1.92; 95% confidence interval, 1.00–3.69; p=0.049). In the node-positive subgroup, the 5-year CSS rate and RFS were 44.6% and 48.4% in patients who had infectious complications, compared to 70.5% and 48.4% for patients who had no complications. CONCLUSION Postoperative infectious complications had a negative impact on CSS and RFS in node-negative NSCLC. Our findings may help improve risk assessment for tumor recurrence after pulmonary resection for node-negative NSCLC.

Phospholipase C-gamma1, containing two SH2 and one SH3 domains which participate in the interaction between signaling molecules, plays a significant role in the growth factor-induced signal transduction. However, the role of the SH domains in the growth factor-induced PLC-gamma1 regulation is unclear. By peptide-mass fingerprinting analysis, we have identified SHIP1 as the binding protein for the SH3 domain of PLC-gamma1. SHIP1 was co-immunoprecipitated with PLC-gamma1 and potentiated EGF-induced PLC-gamma1 activation. However, inositol 5'-phosphatase activity of SHIP1 was not required for the potentiation of EGF-induced PLC-gamma1 activation. Taken together, these results suggest that SHIP1 may function as an adaptor protein which can potentiate EGF-induced PLC-gamma1 activation without regards to its inositol 5'-phosphatase activity.
Adaptor Proteins, Signal Transducing ; Amino Acid Sequence ; Animals ; COS Cells/enzymology ; Cercopithecus aethiops ; Enzyme Activation ; Epidermal Growth Factor/*pharmacology ; Immunoprecipitation ; Inositol 1,4,5-Trisphosphate/metabolism ; Molecular Sequence Data ; Phospholipase C/chemistry/*metabolism ; Phosphoric Monoester Hydrolases/chemistry/*metabolism ; Protein Binding ; Signal Transduction ; src Homology Domains/*physiology

We describe an unusual case of delayed retropneumoperitoneum caused by a deep vaginal laceration as a result trauma from a water jet in a fountain. A 7-year-old premenarcheal girl presented to the emergency department after experiencing an injury from a water jet at a fountain park. Initially, the patient's vital sign and perineum were within normal range. Because the patient's vital signs became unstable 12 hours after vaginal injury, we carried out abdomino-pelvic computed tomography resulting in retropneumoperitoneum. Arterial bleeding from vaginal lateral wall was founded and controlled by electrocoagulation. No damage to the rectum was laparoscopically confirmed. A diagnostic laparoscopy, not laparotomy, should be considered in cases of retropneumoperitoneum with an ambiguous cause first.
Child* ; Electrocoagulation ; Emergency Service, Hospital ; Female* ; Hemorrhage ; Humans ; Lacerations* ; Laparoscopy ; Laparotomy ; Perineum ; Rectum ; Reference Values ; Retropneumoperitoneum* ; Vagina ; Vital Signs ; Water

A uterocutaneous fistula is rarely reported clinical condition after uterine procedures. Many diagnostic and management strategies are being suggested. In this case report, uterocutaneous fistula after pelviscopic myomectomy was diagnosed simply with hystero-salpingo contrast sonography and managed by surgical tract excision without hysterectomy and uterine wall dehiscence repair combined with medical treatment using gonadotropin-releasing hormone agonist succeeded to preserve fertility in young woman.
Cutaneous Fistula ; Diagnosis* ; Female ; Fertility Preservation* ; Fertility* ; Fistula* ; Gonadotropin-Releasing Hormone ; Humans ; Hysterectomy

Good's syndrome is the association of thymoma with immunodeficiency, characterized by hypogammaglobulinemia, B-cell lymphopenia and variably defects in cellular immunity with CD4+ T-cell lymphopenia and an inverted CD4+:CD8+ T-cell ratio. We report a 43-year-old male patient who presented with a 18-month history of productive cough and postnasal drip. One year ago, he underwent the operation for resection of a thymoma. Despite of appropriate management, sinusitis relapsed multiple times. He was found to have hypogammaglobulinemia with nearly absent B cells(4/microliter). The CD4+ T-cell count was 554/microliter with an inverted CD4+:CD8+ T-cell ratio of 0.6. His symptoms and signs improved with antibiotic treatment and monthly administration of intravenous immunoglobulin (IVIG, 400 mg/kg).
Adult ; Agammaglobulinemia ; B-Lymphocytes ; Cough ; Humans ; Immunity, Cellular ; Immunoglobulins ; Lymphopenia ; Male ; Sinusitis ; T-Lymphocytes ; Thymoma

Good's syndrome is the association of thymoma with immunodeficiency, characterized by hypogammaglobulinemia, B-cell lymphopenia and variably defects in cellular immunity with CD4+ T-cell lymphopenia and an inverted CD4+:CD8+ T-cell ratio. We report a 43-year-old male patient who presented with a 18-month history of productive cough and postnasal drip. One year ago, he underwent the operation for resection of a thymoma. Despite of appropriate management, sinusitis relapsed multiple times. He was found to have hypogammaglobulinemia with nearly absent B cells(4/microliter). The CD4+ T-cell count was 554/microliter with an inverted CD4+:CD8+ T-cell ratio of 0.6. His symptoms and signs improved with antibiotic treatment and monthly administration of intravenous immunoglobulin (IVIG, 400 mg/kg).
Adult ; Agammaglobulinemia ; B-Lymphocytes ; Cough ; Humans ; Immunity, Cellular ; Immunoglobulins ; Lymphopenia ; Male ; Sinusitis ; T-Lymphocytes ; Thymoma