3,190 results match your criteria: "Osaka Medical Center[Affiliation]"

Article Synopsis
  • A study of 10,069 childhood cancer survivors in Japan revealed varying rates of secondary cancers based on the type of primary cancer they had, with the highest incidence in osteosarcoma (13.1%).
  • The research highlighted a significant connection between primary and secondary cancers and identified stem cell transplantation as a common risk factor for developing secondary cancers.
  • These findings emphasize the need for ongoing monitoring of childhood cancer survivors for late effects, particularly regarding secondary malignancies.
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The aim of the present study was to compare short-term outcomes of laparoscopic and open liver resection (LLR and OLR, respectively), and we first analyzed a preoperatively enrolled and prospectively collected database. We carried out a secondary analysis using a preoperative enrolled database that included the details of 786 patients who had been enrolled in a previously carried out randomized controlled trial to assess short-term outcomes, including morbidities. Statistical analyses included logistic regression, propensity score matching (PSM) with replacement, and inverse probability of treatment weighting (IPTW) analyses.

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Background: The aim of our study was to clarify the attitudes of pediatricians toward children's consumption of ionic beverages.

Methods: A questionnaire survey of pediatric practitioners' attitudes toward the consumption of ionic beverages was administered to 537 doctors under 60 years of age who were members of the Japanese Pediatric Society.

Results: We received 215 valid responses from 182 board-certified pediatric specialists and 31 non-specialists.

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A phase I study of oral UFT/leucovorin and irinotecan, plus radiation for locally recurrent rectal cancer.

J Anus Rectum Colon

May 2018

Department of Surgery, Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Suita, Japan.

Objectives: The aim of this phase I study is to identify the maximum tolerated dose (MTD) and recommended dose (RD) of CPT-11 in combination with UFT/LV and radiation in patients with locally recurrent rectal cancer.

Methods: Patients with histologically proven rectal cancer with local recurrence were eligible for this study. Escalating doses of CPT-11 (30-60 mg/m) were administered on days 3, 10, 24, and 31.

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Primary microcephaly caused by novel compound heterozygous mutations in .

Hum Genome Var

April 2018

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who presented with a severe form of primary microcephaly. Targeted panel sequencing revealed compound heterozygous truncating mutations of the () gene, which confirmed the MCPH5 diagnosis.

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QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

J Hum Genet

June 2018

Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.

Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and structure. QIL1 (also named MIC13) is a small complex that is crucial for the maintenance and assembling of MICOS. A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and lactate acidosis consistent with psychomotor retardation.

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Insertions and deletions (indels) have been implicated in dozens of human diseases through the radical alteration of gene function by short frameshift indels as well as long indels. However, the accurate detection of these indels from next-generation sequencing data is still challenging. This is particularly true for intermediate-size indels (≥50 bp), due to the short DNA sequencing reads.

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Aim: To examine the predictive value of ultrasound parameters for antepartum non-reassuring fetal status (NRFS) in fetal growth restriction (FGR) cases after late preterm.

Methods: Retrospective review of singleton FGR cases before 37 weeks gestation who delivered after 34 weeks gestation was performed. The association between ultrasound parameters that was assessed from 34 to 36 weeks gestation and the development of antepartum NRFS that was diagnosed by nonstress test and biophysical profile was analyzed by using multivariate Cox proportional hazards analyses.

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Clinical information regarding non-Hodgkin lymphoma (NHL) in adolescents and young adults (AYA) is lacking. We retrospectively analyzed 1426 consecutively registered patients with newly diagnosed NHL. Of 798 DLBCL patients, 42 (5.

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Article Synopsis
  • - The study aimed to evaluate how fetal fractions in non-invasive prenatal testing (NIPT) can help predict pregnancy complications like gestational diabetes and hypertension by comparing results from different gestational ages and maternal characteristics.
  • - Conducted as a multicenter cohort study, it analyzed data from 5,582 women with negative NIPT results to explore the links between fetal fractions and pregnancy outcomes such as miscarriages and complications.
  • - Results indicated that women who developed hypertensive disorders tended to have lower fetal fractions early in pregnancy, but using this marker to predict such conditions proved challenging.
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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Brain Dev

May 2018

Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address:

We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.

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DNA damage response plays a critical role in tumor growth, but little is known about its potential role in bone metabolism. We employed selective inhibitors of Chk1 and examined their effects on the proliferation and migration of mammary tumor cells as well as the development of osteoblasts and osteoclasts. Further, using a mouse model of bone metastasis we evaluated the effects of Chk1 inhibitors on bone quality.

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Neoadjuvant chemotherapy (NAC) is a promising treatment strategy for advanced esophageal cancer. However, measures of NAC response assessment and prognostic prediction have not yet been established. The aim of this study was to evaluate the usefulness of combined F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT).

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The accuracy of next-generation sequencing (NGS) for detecting tumor-specific mutations in plasma DNA is hindered by errors introduced during PCR/sequencing, base substitutions caused by DNA damage, and pre-existing mutations in normal cells that are present at a low frequency. Here, we performed NGS of genes related to pancreatic cancer (comprising 2.8 kb of genomic DNA) in plasma DNA (average 4.

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Background: Accurate delineation of tumor margins is necessary for curative resection of early gastric cancer (EGC). The objective of this multicenter, randomized, controlled study was to compare the accuracy with which magnifying narrow-band imaging (M-NBI) and indigo carmine chromoendoscopy delineate EGC margins.

Methods: Patients with EGC ≥ 10 mm undergoing endoscopic or surgical resection were enrolled.

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Background: This study aimed to investigate whether schedule modification is safe and effective in patients intolerant to the standard eribulin dose and schedule.

Methods: Patients with metastatic breast cancer (MBC) treated with both anthracycline and taxane and ≤ 3 prior regimens of chemotherapy for MBC received eribulin at the standard dose and schedule (1.4 mg/m on days 1 and 8 of a 21-day cycle) in the first cycle; change of dosing schedule (1.

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Background: Postoperative urinary dysfunction is a major complication of rectal cancer surgery. A randomized controlled trial (JCOG0212) concluded that the noninferiority of mesorectal excision alone to mesorectal excision with lateral lymph node dissection was not confirmed in terms of relapse-free survival.

Methods: Eligibility criteria included histologically proven clinical stage II/III rectal cancer, a main lesion located in the rectum with the lower margin below the peritoneal reflection, and the absence of lateral lymph node enlargement.

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The placement of a self-expanding metallic stent (SEMS) in obstructive colorectal cancer (OCRC) is acknowledged to be a safe and effective procedure for the relief of obstruction. However, there is concern that shear forces acting on the tumor during stent expansion may release cancer cells into the circulation, resulting in a poor prognosis. The aim of the present study was to determine whether colonic stent insertion increases viable circulating tumor cells (v-CTCs).

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Determinants of the efficacy and safety of pomalidomide (POM) monotherapy or POM plus dexamethasone (DEX) (POM/DEX) for relapsed and refractory multiple myeloma (RRMM) were examined retrospectively in a real-world clinical practice setting in Japan. The subjects were 108 patients registered with the Kansai Myeloma Forum, who were treated with either POM or POM/DEX. Of these, 79 (73%), 73 (68%), and 58 (54%) were resistant to bortezomib (BTZ), lenalidomide (LEN), and both BTZ and LEN, respectively.

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Purpose: Among the various types of biliary tract cancer, patients with single, small (<5 cm), peripheral intrahepatic cholangiocarcinoma (ICC), or small (<2 cm) gallbladder tumors (GBTs) rarely develop lymph node (LN) metastasis. We investigated a laparoscopic approach for hilar LN sampling in such cases.

Methods: Among the 176 patients with biliary tract cancer who were treated from January 2012 to March 2017, 21 (ICC, n=4; GBT, n=17) met the above indications.

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We report a case of pelvic fracture urethral injury reconstructed by anastomotic urethroplasty. A 24-year-old male was referred to our hospital because of pelvic trauma accompanying ischial fracture. Retrograde urethrography showed urethral disruption and suprapubic catheter was inserted.

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Since 2011, endoscopic correction of vesicoureteral reflux using dextranomer-hyaluronic acid copolymer (Deflux) has been widely accepted in Japan due to its safety and minimally invasive nature. However, long-term complications are unknown. We present a case of Deflux implants calcification mimicking distal ureteral calculi in a 12-year-old boy with a history of Deflux injection performed at three years of age for primary VUR.

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