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Find video protocols related to scientific articles indexed in Pubmed.
Surgery for Recurrent Biliary Tract Cancer: A Single-Center Experience With 74 Consecutive Resections.
Ann. Surg.
PUBLISHED: 11-19-2014
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To review our experiences with surgery for recurrent biliary tract cancer (BTC).
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Salivary duct carcinoma in the mandible.
J Craniofac Surg
PUBLISHED: 11-08-2014
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We reported 1 case of salivary duct carcinoma (SDC) in the mandible. The patient complained of pain and a growing mass in the right submandibular area for approximately 2 months. On clinical examination, there was a mass under the right angle of the mandible with a size of approximately 3 × 3 cm, a smooth surface, a poor activity, and a hard texture. Panoramic radiograph revealed poorly circumscribed area. Computed tomography presented mandible central destruction. Biopsy examination showed a malignant tumor that originated in the central epithelium of the mandible. An operation of unilateral selective neck dissection and mandible subtotal ectomy was performed. Postoperative pathology reported SDC. The patient received postoperative radiation and stayed alive at last follow-up without disease recurrence. Ablative resection and postoperative radiotherapy were the standard treatment stratagem for SDC, but trastuzumab therapy might play a key role in treating the disease in future.
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Increase of TRPV1-Immunoreactivity in Dorsal Root Ganglia Neurons Innervating the Femur in a Rat Model of Osteoporosis.
Yonsei Med. J.
PUBLISHED: 10-18-2014
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Transient receptor potential vanilloid 1 (TRPV1) is a ligand-gated nonselective cation channel, which can be activated by capsaicin and other noxious stimuli. Recently, an association between bone pain and TRPV1 has been reported. However, the influence of osteoporosis on TRPV1 in the sensory system innervating the femur has not been reported.
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The determination of bile leakage in complex hepatectomy based on the guidelines of the International Study Group of Liver Surgery.
World J Surg
PUBLISHED: 09-06-2014
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The International Study Group of Liver Surgery (ISGLS) has defined bile leakage as a drain fluid-to-serum total bilirubin concentration (TBC) ratio (the bilirubin ratio) ? 3.0. The aim of the present study was to determine the clinical significance of this definition, and to outline characteristics of bile leakage in complex hepatectomy.
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Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
Hum. Mol. Genet.
PUBLISHED: 09-03-2014
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Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the present study, we converted COL2pathy patients' fibroblasts directly into induced chondrogenic (iChon) cells. The COL2pathy-iChon cells showed suppressed expression of COL2A1 and significant apoptosis. A distended endoplasmic reticulum (ER) was detected, thus suggesting the adaptation of gene expression and cell death caused by excess ER stress. Chondrogenic supplementation adversely affected the chondrogenesis due to forced elevation of COL2A1 expression, suggesting that the application of chondrogenic drugs would worsen the disease condition. The application of a chemical chaperone increased the secretion of type II collagen, and partially rescued COL2pathy-iChon cells from apoptosis, suggesting that molecular chaperons serve as therapeutic drug candidates. We next generated induced pluripotent stem cells from COL2pathy fibroblasts. Chondrogenically differentiated COL2pathy-iPS cells showed apoptosis and increased expression of ER stress-markers. Finally, we generated teratomas by transplanting COL2pathy iPS cells into immunodeficient mice. The cartilage in the teratomas showed accumulation of type II collagen within cells, a distended ER, and sparse matrix, recapitulating the patient's cartilage. These COL2pathy models will be useful for pathophysiological studies and drug screening.
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[Concept of perihilar cholangiocarcinoma in the General Rules for Clinical and Pathological Studies on Cancer of the Biliary Tract, 6th edition].
Nihon Geka Gakkai Zasshi
PUBLISHED: 08-27-2014
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Hilar cholangiocarcinoma is clinically characterized by biliary obstruction in the porta hepatis. Because the boundary between the intrahepatic and extrahepatic bile duct is unclear, hilar cholangiocarcinoma can potentially arise from both ducts. Therefore, the definition of hilar cholangiocarcinoma remains under debate. In November 2013, the 6th edition of the General Rules for Clinical and Pathological Studies on Cancer of the Biliary Tract was released, following the American Joint Committee on Cancer (AJCC) or International Union Against Cancer (UICC) TNM system. In that edition, as an alternative to "hilar cholangiocarcinoma," the new term "perihilar cholangiocarcinoma" is defined as cholangiocarcinoma involving the perihilar bile duct, despite the presence or absence of a significant liver mass component. This definition clearly indicates that some intrahepatic as well as extrahepatic perihilar tumors are involved in the perihilar tumor category. From the clinical point of view, there is no need for a differential diagnosis between intrahepatic or extrahepatic tumors therefore, the new definition is readily applicable in multidisciplinary team management. Japanese clinicians were previously required to distinguish between the proper use of the AJCC/UICC and the Japanese staging systems, but now the current revision will allow the more convenient use of a single, globally standardized staging system in daily practice.
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Miniopen oblique lateral L5-s1 interbody fusion: a report of 2 cases.
Case Rep Orthop
PUBLISHED: 08-26-2014
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Extreme lateral interbody fusion (XLIF) has been widely used for minimally invasive anterior lumbar interbody fusion (ALIF), but an approach to L5-S1 is difficult because of the iliac crest. In the current study, we present 2 cases using minimally invasive oblique lateral interbody fusion (OLIF) of L5-S1. The patients showed foraminal stenosis between L5 and S1 and severe low back and leg pain. The patients were placed in a lateral decubitus position and underwent OLIF surgery (using a cage and bone graft from the iliac crest) without posterior decompression. Posterior screws were used in the patients. Pain scores significantly improved after surgery. There was no spinal nerve, major vessel, peritoneal, or urinary injury. OLIF surgery was minimally invasive and produced good surgical results without complications.
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Management strategy for biliary stricture following laparoscopic cholecystectomy.
J Hepatobiliary Pancreat Sci
PUBLISHED: 08-26-2014
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Biliary strictures following laparoscopic cholecystectomy (Lap-C), which are often associated with vascular injuries, remain a serious problem to manage. The aim of this study was to review our experiences with postoperative biliary stricture.
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Single-incision laparoscopic cholecystectomy for cholecystitis requiring percutaneous transhepatic gallbladder drainage.
Surg. Today
PUBLISHED: 08-21-2014
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Single-incision laparoscopic cholecystectomy (SILC) has been performed for patients with gallbladder stones but without acute cholecystitis. We report our experience of performing SILC for patients with cholecystitis requiring percutaneous transhepatic gallbladder drainage (PTGBD).
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CCR7 regulates cell migration and invasion through MAPKs in metastatic squamous cell carcinoma of head and neck.
Int. J. Oncol.
PUBLISHED: 08-14-2014
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Migration and invasion of tumor cells are essential prerequisites for the formation of metastasis in malignant diseases. Previously, we have reported that CC chemokine receptor 7 (CCR7) regulates the mobility of squamous cell carcinoma of head and neck (SCCHN) cells through several pathways, such as integrin and cdc42. In this study, we investigated the connection between CCR7 and mitogen?activated protein kinase (MAPK) family members, and their influence on cell invasion and migration in metastatic SCCHN cells. Western blotting, immunostaining and fluorescence microcopy were used to detect the protein expression and distribution of MAPKs, and the Migration assay, Matrigel invasion assay and wound?healing assay to detect the role of MAPKs in CCR7 regulating cell mobility. To analyze the correlation between CCR7 and MAPK activity and clinicopathological factors immunohistochemical staining was emplyed. The results showed stimulation of CCL19 and the activation of CCR7 could induce ERK1/2 and JNK phosphorylation, while it had no efect on p38. After activation, ERK1/2 and JNK promoted E?cadherin low expression and Vimentin high expression. The MAPK pathway not only mediated CCR7 induced cell migration, but also mediated invasion speed. The immunohistochemistry results showed that CCR7 was correlated with the phosphorylation of ERK1/2 and JNK in SCCHN, and these molecules were all associated with lymph node metastasis. Therefore, our study demonstrates that MAPK members (ERK1/2 and JNK) play a key role in CCR7 regulating SCCHN metastasis.
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CCR7 Regulates Cell Migration and Invasion through JAK2/STAT3 in Metastatic Squamous Cell Carcinoma of the Head and Neck.
Biomed Res Int
PUBLISHED: 07-08-2014
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Squamous cell carcinoma of the head and neck (SCCHN) frequently involves metastasis at diagnosis. Our previous research has demonstrated that CCR7 plays a key role in regulating SCCHN metastasis, and this process involves several molecules, such as PI3K/cdc42, pyk2, and Src. In this study, the goals are to identify whether JAK2/STAT3 also participates in CCR7's signal network, its relationship with other signal pathways, and its role in SCCHN cell invasion and migration. The results showed that stimulation of CCL19 could induce JAK2/STAT3 phosphorylation, which can be blocked by Src and pyk2 inhibitors. After activation, STAT3 was able to promote low expression of E-cadherin and had no effect on vimentin. This JAk2/STAT3 pathway not only mediated CCR7-induced cell migration but also mediated invasion speed. The immunohistochemistry results also showed that the phosphorylation of STAT3 was correlated with CCR7 expression in SCCHN, and CCR7 and STAT3 phosphorylation were all associated with lymph node metastasis. In conclusion, JAk2/STAT3 plays a key role in CCR7 regulating SCCHN metastasis.
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Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Hum. Mutat.
PUBLISHED: 07-02-2014
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Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal dominant inheritance; but, many autosomal recessive genes have been reported. We applied whole exome sequencing to identify mutations in a Korean OI patient who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. We identified two novel variants in the BMP1 gene: c.808A>G and c.1297G>T. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypo-functional nature of the two variants was demonstrated in a zebrafish assay. This article is protected by copyright. All rights reserved.
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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Cell. Signal.
PUBLISHED: 06-14-2014
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Acrodysostosis without hormone resistance is a rare skeletal disorder characterized by brachydactyly, nasal hypoplasia, mental retardation and occasionally developmental delay. Recently, loss-of-function mutations in the gene encoding cAMP-hydrolyzing phosphodiesterase-4D (PDE4D) have been reported to cause this rare condition but the pathomechanism has not been fully elucidated. To understand the pathogenetic mechanism of PDE4D mutations, we conducted 3D modeling studies to predict changes in the binding efficacy of cAMP to the catalytic pocket in PDE4D mutants. Our results indicated diminished enzyme activity in the two mutants we analyzed (Gly673Asp and Ile678Thr; based on PDE4D4 residue numbering). Ectopic expression of PDE4D mutants in HEK293 cells demonstrated this reduction in activity, which was identified by increased cAMP levels. However, the cells from an acrodysostosis patient showed low cAMP accumulation, which resulted in a decrease in the phosphorylated cAMP Response Element-Binding Protein (pCREB)/CREB ratio. The reason for this discrepancy was due to a compensatory increase in expression levels of PDE4A and PDE4B isoforms, which accounted for the paradoxical decrease in cAMP levels in the patient cells expressing mutant isoforms with a lowered PDE4D activity. Skeletal radiographs of 10-week-old knockout (KO) rats showed that the distal part of the forelimb was shorter than in wild-type (WT) rats and that all the metacarpals and phalanges were also shorter in KO, as the name acrodysostosis implies. Like the G-protein ?-stimulatory subunit and PRKAR1A, PDE4D critically regulates the cAMP signal transduction pathway and influences bone formation in a way that activity-compromising PDE4D mutations can result in skeletal dysplasia. We propose that specific inhibitory PDE4D mutations can lead to the molecular pathology of acrodysostosis without hormone resistance but that the pathological phenotype may well be dependent on an over-compensatory induction of other PDE4 isoforms that can be expected to be targeted to different signaling complexes and exert distinct effects on compartmentalized cAMP signaling.
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Surgical technique of hepatectomy combined with simultaneous resection of hepatic artery and portal vein for perihilar cholangiocarcinoma (with video).
J Hepatobiliary Pancreat Sci
PUBLISHED: 06-10-2014
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Perihilar cholangiocarcinomas often involve the bifurcation of the portal vein and the hepatic artery at initial presentation. Previously, vascular invasion was a major obstacle for R0 resection; therefore, such tumors were regarded as locally advanced, unresectable disease. Recently, in leading centers, these tumors have been resected using a specific technique, vascular resection and reconstruction. Vascular resection is classified into three types: portal vein resection alone, hepatic artery resection alone, and simultaneous resection of both the portal vein and hepatic artery. Of these, portal vein resection is widely performed, whereas hepatic artery resection remains controversial. Therefore, hepatectomy combined with simultaneous resection of the portal vein and hepatic artery represents one of the most complicated and challenging procedures in hepatobiliary surgery. The survival benefit of this extended procedure remains unproven, and there is only a single study reporting an unexpectedly favorable outcome in 50 patients. Considering the dismal survival in patients with unresectable disease, hepatic artery resection and/or portal vein resection may be a promising option of choice. However, the technique is highly demanding and has not been standardized. Therefore, this extended surgery may be allowed only in selected hepatobiliary centers.
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Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Am. J. Med. Genet. A
PUBLISHED: 05-21-2014
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We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo-tarsal coalition who also had genitourinary malformations. Trio-based whole exome sequencing identified a novel de novo mutation (c.1102A>T, p.Ile368Phe) in the HOXA13 gene. Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails. Considering the molecular data, the phenotype in the present patient was defined as the severe end of hand-foot-genital and Guttmacher syndrome spectrum. Our observation expands the clinical spectrum caused by heterozygous HOXA13 mutations and reinforces the difficulty of differential diagnosis on clinical grounds for the disorders with short distal phalanges, short thumbs, and short halluces.
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Squamous cell carcinoma of the oral cavity in ever smokers: a matched-pair analysis of survival.
J Craniofac Surg
PUBLISHED: 05-14-2014
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Smoking is associated with oral cancer, and to adopt a more healthy lifestyle, increasing numbers of people are choosing to give up the habit. However, the occurrence of oral cancer in ever smokers is still apparent. In this study, we investigated the survival of ever smokers with oral squamous cell carcinoma compared with nonsmokers and current smokers with oral squamous cell carcinoma. A matched-pair study was performed between 2005 and 2012, which matched 66 ever smoker patients with oral cancer to both current smokers and never smokers: each ever smoker was matched with 1 never smoker and 1 current smoker. A Chi-squared test was used to evaluate the significance of the variables, and the Kaplan-Meier method was used to analyze the recurrence-free survival and disease-specific survival rates. The recurrence-free survival (P = 0.006) and disease-specific survival (P = 0.027) rates were worse for ever smokers compared with never smokers, but the former group shared a similar prognosis with current smokers. The matched-pair analysis showed that smoking was associated with an approximately 2-fold increase in the risk for recurrence and 5-fold increase in risk for disease-related death. Ever smokers and current smokers had a similar chance of recurrence and disease-related death, but ever smokers had a poorer prognosis than never smokers do and they tended to have a local recurrence. The recurrence-free survival and disease-specific survival rates did not differ between ever and current smokers, and smoking cessation did not affect the chance of recurrence and diseases-related death in ever smokers compared with current smokers.
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Portal vein embolization using absolute ethanol: evaluation of its safety and efficacy.
J Hepatobiliary Pancreat Sci
PUBLISHED: 05-12-2014
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Previously, we reported on the clinical efficacy and safety of portal vein embolization (PVE) with fibrin glue. Our embolic materials for PVE changed from fibrin glue to absolute ethanol (EOH) after 2001 due to prohibition of using fibrin glue for PVE. With introducing our technique of PVE with EOH, we evaluated its safety and efficacy with attention to the amount of EOH.
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Odontogenic lesions in pediatric patients.
J Craniofac Surg
PUBLISHED: 05-03-2014
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The purpose was to evaluate our 20-year experience of pediatric odontogenic lesions. Pediatric patients with a diagnosis of odontogenic lesion were identified. Three hundred ten patients were odontogenic; dentigerous cyst was seen in 62.0% of the cases. Most (70.2%) of them occurred in mixed dentition period, and it had a male preponderance. Odontogenic keratocystic tumor occurred in the permanent dentition period. It had an equal site distribution. Odontoma was seen in 20.0% of the cases. Its site of predilection was the mandible. Ameloblastoma was the most common odontogenic tumor. Most of the cases occurred in the permanent dentition period. It affected the male and female equally. Calcifying epithelioma odontogenic tumor was seen in 11.8% of the cases. All the lesions occurred in the primary dentition period. It had no sex or site preponderance. Myxoma was seen in 3.6% of the cases. It was most common in the permanent dentition period, and it was more frequent in the male. Iliac crest bone graft was successfully performed in 28 patients, postoperative infection occurred in 2 patients, and no donor-site dysfunctions were reported. The observed differences in lesion type and distribution in this study compared with previous researches may be attributable to genetic and geographic variation in the populations studied. Iliac crest bone graft was suggested for pediatric mandible reconstruction.
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The adverse effects of preoperative cholangitis on the outcome of portal vein embolization and subsequent major hepatectomies.
Surgery
PUBLISHED: 04-16-2014
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The presence of cholangitis has been shown to impair liver regeneration capacity after major hepatectomy in a rat cholangitis model. It is unclear, however, whether the presence of cholangitis has any impact on liver generation in clinical settings.
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Parotid gland metastasis of lung cancer: a case report.
World J Surg Oncol
PUBLISHED: 04-15-2014
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Parotid gland metastasis in lung cancer is extremely rare, very few cases have been reported.
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A comparison between the pectoralis major myocutaneous flap and the free anterolateral thigh perforator flap for reconstruction in head and neck cancer patients: assessment of the quality of life.
J Craniofac Surg
PUBLISHED: 04-05-2014
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Our study investigated the quality of life (QoL) of Chinese patients after immediate reconstruction surgery on individuals with head and neck cancer. In addition, we compared the differences between pectoralis major myocutaneous flap (PMMF) and anterolateral thigh free flap (ALTFF). The University of Washington Quality of Life questionnaire, version 4, was used to assess the QoL. Assessments were performed at least 24 months postoperatively. A total of 110 patients' records were obtained. Among them, 86 patients completed a QoL questionnaire (78.2%). No significant differences could be found in age, primary site, T stage, N stage, and postoperative radiotherapy between PMMF and ALTFF groups. However, there were significant differences between both groups in sex, operation time, and complication. A matched analysis was performed to compare the differences in QoL between patients with head and neck cancers reconstructed with PMMF or ALTFF. Patients reconstructed with ALTFF had better shoulder but worse speech functions. There was a significant effect on the QoL of head and neck cancer patients who had undergone either PMMF or ALTFF reconstruction. The result of this study provide useful information for physicians and patients during their discussion of treatment modalities for head and neck cancers.
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Multimodal approach for cervical esophageal carcinoma: role of neoadjuvant chemotherapy.
Anticancer Res.
PUBLISHED: 04-03-2014
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To examine the outcome of patients with cervical esophageal cancer treated by a multimodal protocol.
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Total lower lip reconstruction with a double mental neurovascular V-Y island advancement flap.
J. Oral Maxillofac. Surg.
PUBLISHED: 03-19-2014
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To assess the effectiveness of double mental V-Y island advancement flaps for total lower lip reconstructions.
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Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
Pediatr Int
PUBLISHED: 03-16-2014
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We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium-Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder.
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Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Am. J. Med. Genet. A
PUBLISHED: 03-15-2014
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Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation and brachydactyly. The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho-deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the PDE4D gene. We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis. They all had radiological findings consistent with severe metaphyseal scypho-deformity and brachydactyly. Heterozygous mutations were identified in the PHP patients consisting of one novel (p.Q19X) and one recurrent (p.R231C) mutation of the GNAS gene, as well as, in the acrodysostosis patients consisting of two novel mutations (p.T224I and p.I333T) of the PDE4D gene. We conclude that metaphyseal acroscyphodysplasia is a phenotypic variation of PHP or acrodysostosis caused by either a GNAS or PDE4D mutation, respectively.
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Tongue squamous cell carcinoma as a possible distinct entity in patients under 40 years old.
Oncol Lett
PUBLISHED: 03-14-2014
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Much controversy exists in the published literature regarding the clinical course and prognosis of tongue squamous cell carcinoma (SCC) in young patients. The aim of the current study was to evaluate the clinical results of tongue SCC in young patients. A total of 176 patients were included in this retrospective study. The patients were divided into two groups (young and old) according to an age cut-off of 40 years. The ?(2) test and Kaplan-Meier method were used to analyze the variables. In total, 15 patients were <40 years old and placed into the young group, with five-year recurrence-free survival (RFS) and disease-specific survival (DSS) rates of 30 and 63%, respectively, compared with 47 and 62%, respectively, in the old group. No significant differences were identified between the RFS and DSS rates of the two groups, however, the young patients exhibited a different failure pattern. Overall, nine out of 10 recurrences in the young group occurred at a primary site compared with 18 out of 70 in the old group (P<0.001). Univariate analysis revealed that gender and differentiation were associated with recurrence and neck nodal involvement. In addition, poor differentiation was found to significantly decrease the DSS time. However, the prognosis of tongue SCC in the young patient group did not appear to differ from that of the old patient group. Furthermore, in the young patient group, local recurrence was the most common failure pattern and tumor differentiation was the most important prognostic factor.
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Long-term survival following extended hepatectomy with concomitant resection of all major hepatic veins for intrahepatic cholangiocarcinoma: report of a case.
Surg. Today
PUBLISHED: 02-24-2014
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Intrahepatic cholangiocarcinoma involving all major hepatic veins was diagnosed in a 62-year-old man. Multidetector-row computed tomography showed a massive tumor occupying segments 2-5, 7, and 8, with invasion of all major hepatic veins, although the inferior right hepatic vein, draining the venous flow of segment 6, was clearly visualized. Therefore, we planned an extended left trisectionectomy, involving resection of segments 1-5, 7, and 8, with extrahepatic bile duct resection and concomitant resection of all major hepatic veins. We performed portal vein embolization of the right anterior portal branch and the portal branch of segment 7 to identify the demarcation between segments 6 and 7 on the surface of the right lobe. We were able to divide the hepatic parenchyma between segments 6 and 7 and the planned surgery was accomplished, with repositioning of the confluence of the inferior right hepatic vein to prevent outflow blockage. The histological findings were pT3N0M0, Grade2, Stage III, and R0 resection, according to the UICC classification (seventh edition). Although remnant liver metastases were detected 75 months after surgery, the patient is still alive and being treated with chemotherapy, 88 months after surgery. We report this case to demonstrate how using portal vein embolization to identify the hepatic segment helps accomplish extended hepatectomy preserving only one segment and that R0 resection by extended hepatectomy with concomitant resection of all hepatic veins can achieve a satisfactory outcome.
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Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias.
Pediatr Radiol
PUBLISHED: 01-30-2014
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Recently, computed tomography (CT) has been used to diagnose fetal skeletal dysplasia. However, no surveys have been conducted to determine the radiation exposure dose and the diagnostic reference level (DRL).
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Review of hepatopancreatoduodenectomy for biliary cancer: an extended radical approach of Japanese origin.
J Hepatobiliary Pancreat Sci
PUBLISHED: 01-27-2014
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Cholangiocarcinomas exhibit various modes of local extension, and some tumors can only be completely resected by hepatopancreatoduodenectomy (HPD), which is defined as the resection of the whole extrahepatic biliary system with the adjacent liver and pancreatoduodenum. Since Takasaki et al. introduced HPD for locally advanced gallbladder cancer in 1980, Japanese hepatobiliary surgeons have aggressively challenged this extended procedure for advanced biliary tumors. Early experiences with HPD were frequently associated with liver failure and sequential mortality, leading to an underestimation of the survival benefit of HPD. However, with improvements in surgical techniques and perioperative patient care, including portal vein embolization, over the last two decades, the mortality rate after HPD has gradually decreased. Recent studies have demonstrated a favorable survival in cholangiocarcinoma, provided that R0 resection is achieved. In contrast, HPD for gallbladder cancer remains controversial because of the extremely poor survival, although the study populations have been limited. HPD can be performed with low mortality and offers a better probability of long-term survival in patients with cholangiocarcinoma. We should consider HPD to be a standard approach for laterally advanced cholangiocarcinomas that are otherwise unresectable.
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A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
Am. J. Med. Genet. A
PUBLISHED: 01-23-2014
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Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre- and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4-Mb deletion at 21q22.11 containing 19 protein-coding RefSeq genes. We compared the clinical phenotypes between the present patient and 16 previously reported patients with a deleted region associated with postnatal growth delay and psychomotor developmental delay. Interestingly, ITSN1 was the only gene deleted or disrupted in all cases; this gene is known to be associated with intellectual disability. Microcephaly and brain structural abnormalities including polymicrogyria and agenesis/hypoplasia of the corpus callosum may also result from haploinsufficiency of ITSN1, highlighting its clinical significance for the neurological features of patients with monosomy 21.
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am. J. Hum. Genet.
PUBLISHED: 01-14-2014
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Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes.
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Free flap reconstruction versus non-free flap reconstruction in treating elderly patients with advanced oral cancer.
J. Oral Maxillofac. Surg.
PUBLISHED: 01-14-2014
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Our goal was to evaluate whether elderly patients can benefit from free flaps.
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Multimodal treatment for t1-2 supraglottic cancer: the impact of tumor location.
Anticancer Res.
PUBLISHED: 01-10-2014
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To examine the outcome and prognostic factors after multimodal treatment of T1-2 supraglottic cancer.
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Global Intracoronary Infusion of Allogeneic Cardiosphere-Derived Cells Improves Ventricular Function and Stimulates Endogenous Myocyte Regeneration throughout the Heart in Swine with Hibernating Myocardium.
PLoS ONE
PUBLISHED: 01-01-2014
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Cardiosphere-derived cells (CDCs) improve ventricular function and reduce fibrotic volume when administered via an infarct-related artery using the "stop-flow" technique. Unfortunately, myocyte loss and dysfunction occur globally in many patients with ischemic and non-ischemic cardiomyopathy, necessitating an approach to distribute CDCs throughout the entire heart. We therefore determined whether global intracoronary infusion of CDCs under continuous flow improves contractile function and stimulates new myocyte formation.
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Randomized controlled trial on timing and number of sampling for bile aspiration cytology.
J Hepatobiliary Pancreat Sci
PUBLISHED: 12-18-2013
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The issue on timing and number of bile sampling for exfoliative bile cytology is still unsettled.
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Secreted Frizzled-related protein 2 (sFRP2) as a target in anti-fibrotic therapeutic intervention.
Am. J. Physiol., Cell Physiol.
PUBLISHED: 12-11-2013
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Progressive fibrosis is a pathological hallmark of many chronic diseases responsible for organ failure. The dynamic fibrogenic process is known to be regulated by multiple soluble mediators that may be therapeutically intervened. The failing hamster heart exhibits marked fibrosis and increased expression of secreted Frizzled-related protein 2 (sFRP2) amenable to reversal by mesenchymal stem cell (MSC) therapy. Given the previous demonstration that sFRP2-null mice subjected to myocardial infarction exhibited reduced fibrosis and improved function, we tested whether antibody-based sFRP2 blockade might counteract the fibrogenic pathway and repair cardiac injury. Cardiomyopathic hamsters were injected intraperitoneally twice a week each with 20 ?g of sFRP2 antibody. Echocardiography, histology and biochemical analyses were performed after one month. sFRP2 antibody increased left ventricular ejection fraction from 40 ± 1.2% to 49 ± 6.5%, whereas saline and IgG control exhibited a further decline to 37 ± 0.9% and 31 ± 3.2%, respectively. Functional improvement is associated with a ~50% reduction in myocardial fibrosis, ~65% decrease in apoptosis and ~75% increase in wall thickness. Consistent with attenuated fibrosis, both MSC therapy and sFRP2 antibody administration significantly increased the activity of myocardial matrix metalloproteinase-2. Gene expression analysis of the hamster heart and cultured fibroblasts identified Axin2 as a downstream target, the expression of which was activated by sFRP2 but inhibited by therapeutic intervention. sFRP2 blockade also increased myocardial levels of VEGF and HGF along with increased angiogenesis. These findings highlight the pathogenic effect of dysregulated sFRP2, which may be specifically targeted for anti-fibrotic therapy.
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Non-surgical Multimodality Treatment for Locally Advanced (T3-4) Hypopharyngeal Cancer: The Impact of Pre-treatment Hemoglobin Level.
Anticancer Res.
PUBLISHED: 12-11-2013
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Aim: To examine the role of a non-surgical multimodality approach in patients with locally advanced pharyngeal cancer who refuse surgery or are inoperable.
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Upper extremity morbidity after radial forearm flap harvest: a prospective study.
J. Int. Med. Res.
PUBLISHED: 12-10-2013
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To determine the effect of radial forearm free (RFF) flap harvest on patient-reported postoperative upper extremity disability.
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Quality of life in patients younger than 40 years treated for anterior tongue squamous cell carcinoma.
J Craniofac Surg
PUBLISHED: 11-14-2013
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This study investigated the quality of life in patients younger than 40 years with tongue squamous cell carcinoma. We used the University of Washington Head and Neck Quality of Life scale to compare the quality of life outcomes between young and old patients. Cases were patients younger than 40 years who were treated for anterior tongue squamous cell carcinoma. Controls were patients older than 40 years who were matched to the cases regarding diagnosis, sex, and TNM classification. Two controls were matched for each case; thus, 21 cases and 42 controls were selected. Twenty-one of 33 questionnaires (63.6%) were returned. The median follow-up duration was 3.7 years (range, 1-12 y). In the group of young patients, the best-scoring domains were pain, chewing, and swallowing, whereas the lowest scores were for appearance, mood, and anxiety. Young patients (40 years or younger) reported better function, notably regarding activity, recreation, shoulder, taste, and saliva compared with the old patients with anterior tongue squamous cell carcinoma. The patients younger than 40 years tend to have a good quality of life. Most of them were not significantly affected by pain. Quality of life should be used as part of our treatment of anterior tongue squamous cell carcinoma.
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Free fibula flap: assessment of quality of life of patients with head and neck cancer who have had defects reconstructed.
J Craniofac Surg
PUBLISHED: 11-14-2013
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This study investigated the quality of life (QoL) of patients with head and neck cancer undergoing immediate reconstruction of the mandible with free fibula flap. From March 2006 to January 2011, the QoL of 42 patients was assessed using the Medical Outcomes Study Short Form 36 and the University of Washington QoL (version 4) questionnaires. The assessments were performed at least 24 months after surgery. A total of 31 of the 42 questionnaires (73.8%) were returned. The length of harvested fibula varied from 17.5 to 26.1 cm. In the Short Form 36, the lowest-scoring domain was vitality, whereas the highest scores occurred in physical role. According to the University of Washington QoL, the key domains affected by surgery are chewing, speech, and appearance. The domain of pain has the best score. There was a significant effect on the QoL of patients with head and neck cancer with resections of the mandible who had undergone free fibula flap reconstruction. Data from this study may provide useful information for physicians and patients, which may be of value during discussion of treatment modalities for head and neck cancers.
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[Collagen abnormalities and endoplasmic reticulum stress in bone and cartilage].
Clin Calcium
PUBLISHED: 10-29-2013
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There are many steps in the post-translational modification of collagen molecules. When abnormality occurs in some step, the unfolded collagen molecules are accumulated in the endoplasmic reticulum (ER) , leading to ER stress. ER stress also occurs downstream of the defective modification of collagen in bone and cartilage. ER stress-induced apoptosis or ER stress response without inducing apoptosis may be associated with the pathogenesis of genetic collagen disorders in bone and cartilage.
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IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Clin. Endocrinol. (Oxf)
PUBLISHED: 10-01-2013
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Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients.
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Surgical treatment of perihilar cholangiocarcinoma in octogenarians: a single center experience.
J Hepatobiliary Pancreat Sci
PUBLISHED: 09-21-2013
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Surgery can offer the only chance for a cure in patients with perihilar cholangiocarcinoma, and a growing number of elderly patients are undergoing resection. The purpose of this study was to evaluate the impact of patient age on surgery for perihilar cholangiocarcinoma.
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Comparison studies of different flaps for reconstruction of buccal defects.
J Craniofac Surg
PUBLISHED: 09-17-2013
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Our purpose was to evaluate the feasibility of radial forearm free (RFF) flap, platysma myocutaneous (PM) flap, and anterolateral thigh (ALT) flap in buccal reconstruction. This study consisted of 56 patients who were categorized into 3 groups. The Student t test was used to analyze the variables. Patients in group platysma flap were significantly older, the dissection of platysma flap was easier, and the defect was significantly smaller than those in group radial forearm flap and group ALT flap. The reduction in the widths of mouth opening between group PM, group RFF, and group ALT were compared. However, the reduction of mouth-opening widths in group RFF and group ALT was significantly less than that in group PM. Platysma myocutaneous flap may be more suitable in patients with small to middle-size defect and poor status, although the flap cannot achieve a reliable result; anterolateral thigh flap and radial forearm flap can preserve the interincisal distance well even for large buccal defect, but it takes more time and skills in the operation.
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Evolution of surgical treatment for perihilar cholangiocarcinoma: a single-center 34-year review of 574 consecutive resections.
Ann. Surg.
PUBLISHED: 08-28-2013
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To review our 34-year experience with 574 consecutive resections for perihilar cholangiocarcinoma and to evaluate the progress made in surgical treatment of this disease.
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Non-animal photosafety assessment approaches for cosmetics based on the photochemical and photobiochemical properties.
Toxicol In Vitro
PUBLISHED: 07-18-2013
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The main purpose of the present study was to establish a non-animal photosafety assessment approach for cosmetics using in vitro photochemical and photobiochemical screening systems. Fifty-one cosmetics, pharmaceutics and other chemicals were selected as model chemicals on the basis of animal and/or clinical photosafety information. The model chemicals were assessed in terms of photochemical properties by UV/VIS spectral analysis, reactive oxygen species (ROS) assay and 3T3 neutral red uptake phototoxicity testing (3T3 NRU PT). Most phototoxins exhibited potent UV/VIS absorption with molar extinction coefficients of over 1000M(-1)cm(-1), although false-negative prediction occurred for 2 cosmetic phototoxins owing to weak UV/VIS absorption. Among all the cosmetic ingredients, ca. 42% of tested chemicals were non-testable in the ROS assay because of low water solubility; thereby, micellar ROS (mROS) assay using a solubilizing surfactant was employed for follow-up screening. Upon combination use of ROS and mROS assays, the individual specificity was 88.2%, and the positive and negative predictivities were estimated to be 94.4% and 100%, respectively. In the 3T3 NRU PT, 3 cosmetics and 4 drugs were incorrectly predicted not to be phototoxic, although some of them were typical photoallergens. Thus, these in vitro screening systems individually provide false predictions; however, a systematic tiered approach using these assays could provide reliable photosafety assessment without any false-negatives. The combined use of in vitro assays might enable simple and fast non-animal photosafety evaluation of cosmetic ingredients.
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Recurrent submandibular gland swelling as a first manifestation in a child with primary Sjögren syndrome.
J Craniofac Surg
PUBLISHED: 07-16-2013
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We reported 1 case of primary Sjögren syndrome in a child. The patient complained recurrent submandibular inflammation for more than 2 years without apparent sicca presentations, and Schirmer test resulted negative. However, ultrasound showed hypoechoic areas in the gland, laboratory tests reported the positivity of Sjögrens syndrome A antigen and Sjögrens syndrome B antigen, and biopsy presented periductal lymphocytic infiltration. Therefore, a diagnosis of primary Sjögren syndrome was conducted. Treatment of it required a multidisciplinary team.
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[A case of mediastinal lymph node gastric cancer recurrence during S-1 adjuvant therapy successfully treated with cisplatin + capecitabine as second-line chemotherapy].
Gan To Kagaku Ryoho
PUBLISHED: 07-16-2013
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S-1 adjuvant chemotherapy following radical surgery has been the standard therapy for the pStage II/III gastric cancer in Japan. However, there are few reports regarding treatment for gastric cancer recurrence during S-1 therapy. Here, we present a case of recurrent gastric cancer during S-1 adjuvant therapy that showed partial response to CDDP + capecitabine therapy. A 72-year-old man was diagnosed as having gastric cancer. We performed a distal gastrectomy+D2 dissection, with Roux-en Y reconstruction. The patient was treated with S-1 for adjuvant chemotherapy. Six months after operation, multiple mediastinal lymph node recurrence developed. CDDP + CPT-11 was applied for two courses as first-line treatment for the recurrence. However, the disease progressed with worsening mediastinal lymph node metastases (progressive disease). After two courses of CDDP + capecitabine as second-line chemotherapy, the recurrence site became smaller. After five courses, partial response (PR) had been achieved. Two years and five months after gastrectomy, capecitabine monotherapy was applied as third-line chemotherapy.
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Vertical platysma myocutaneous flap that sacrifices the facial artery and vein.
World J Surg Oncol
PUBLISHED: 07-07-2013
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Platysma myocutaneous flap (PMF) is a generally used technique for defect reconstruction after an oral cancer resection. The aim of the study is to present our experience using vertical PMF that sacrificed the facial artery and vein for intraoral reconstruction.
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Long term quality of life in pediatric patients surviving parotid tumors.
Int. J. Pediatr. Otorhinolaryngol.
PUBLISHED: 06-28-2013
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To evaluate the long term quality of life in pediatric patients who have survived parotid tumors.
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Novel FIG4 mutations in Yunis-Varon syndrome.
J. Hum. Genet.
PUBLISHED: 06-27-2013
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Yunis-Varon syndrome (YVS, MIM 216340) is a rare autosomal recessive disorder characterized by skeletal abnormalities and severe neurological impairment with vacuolation of the central nervous system, skeletal muscles and cartilages. Very recently, mutations of the FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (Saccharomyces cerevisiae)) gene, which encodes a 5-phosphoinositide phosphatase essential for endosome/lysosome function have been identified as the cause for YVS. Interestingly, FIG4 mutations were previously reported to be responsible for other neurodegenerative diseases such as autosomal recessive Charcot-Marie-Tooth disease type 4J and autosomal dominant amyotrophic lateral sclerosis/primary lateral sclerosis. We analyzed a YVS patient using whole-exome sequencing, and identified novel biallelic FIG4 mutations: c.1750+1delG and c.2284_2285delCT (p.S762Wfs*3). These two mutations were mutations supposed to have null function. To our knowledge, this is the second report of FIG4 mutations in YVS and our result supports the idea that biallelic null mutations of FIG4 cause YVS in human.
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Hepatopancreatoduodenectomy for anastomotic recurrence from residual cholangiocarcinoma: report of a case.
Surg. Today
PUBLISHED: 05-24-2013
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Resection of cholangiocarcinoma often results in a positive ductal margin, from carcinoma in situ (CIS) near the main tumor; however, the biological behavior of the residual CIS after surgical resection remains equivocal. We report a case of late local recurrence of CIS, defined as long-term tumor progression from CIS residue at the ductal stump. The patient, a 73-year-old man, had undergone bile duct resection for distal cholangiocarcinoma, leaving positive ductal margins with CIS. A biliary stricture was found 10 years later at the site of anastomosis, and right hepatectomy with pancreatoduodenectomy was performed. Based on histological analogy and the evidence of remnant CIS, a final diagnosis of late local recurrence from the CIS foci was made. This uncommon mode of recurrence should be considered in patients with early-stage disease with expected favorable survival because salvage surgery is feasible for selected patients.
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Predictive power of prothrombin time and serum total bilirubin for postoperative mortality after major hepatectomy with extrahepatic bile duct resection.
Surgery
PUBLISHED: 05-23-2013
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In 2011, the International Study Group of Liver Surgery defined posthepatectomy liver failure using the prothrombin time-international normalized ratio (PT-INR) and total serum bilirubin concentration (T-Bil). Data analyzing the clinical impact of PT-INR and T-Bil on postoperative mortality, however, remain limited, especially for major hepatectomy with extrahepatic bile duct resection (HEBR).
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Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.
Am. J. Med. Genet. A
PUBLISHED: 05-15-2013
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Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of SHOX results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations. Here, we report on a Japanese male infant with mild manifestations of LMD and hitherto unreported microdeletions in PAR1. Clinical analysis revealed mesomelic short stature with various radiological findings indicative of LMD. Molecular analyses identified compound heterozygous deletions, that is, a maternally inherited ?46?kb deletion involving the upstream region and exons 1-5 of SHOX, and a paternally inherited ?500?kb deletion started from a position ?300?kb downstream from SHOX. In silico analysis revealed that the downstream deletion did not affect the known putative enhancer regions of SHOX, although it encompassed several non-coding elements which were well conserved among various species with SHOX orthologs. These results provide the possibility of the presence of a novel enhancer for SHOX in the genomic region ?300 to ?800?kb downstream of the start codon. © 2013 Wiley Periodicals, Inc.
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The phenotype range of achondrogenesis 1A.
Am. J. Med. Genet. A
PUBLISHED: 05-11-2013
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Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3 end of the TRIP11 gene. We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized.
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Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
Am. J. Med. Genet. A
PUBLISHED: 05-10-2013
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Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in ABCC9, encoding a regulatory SUR2 subunit of an ATP-sensitive potassium channel mainly expressed in cardiac and skeletal muscle as well as vascular smooth muscle. We report here on a Japanese family with this syndrome. An affected boy and his father had a novel missense mutation in ABCC9. Each patient had a coarse face and hypertrichosis. However, cardiomegaly was seen only in the boy, and macrosomia only in the father. Skeletal changes were not evident in either patient. Craniosynostosis in the boy and the development of aortic aneurysm in the father are previously undescribed associations with Cantu syndrome. © 2013 Wiley Periodicals, Inc.
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Atorvastatin, etidronate, or both in patients at high risk for atherosclerotic aortic plaques: a randomized, controlled trial.
Circulation
PUBLISHED: 05-08-2013
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Statins are not effective in reducing atherosclerotic plaques of the abdominal aorta, and accumulating evidence suggests that bisphosphonates have the potential to induce the regression of atherosclerotic plaques of the abdominal aorta.
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Safety of fondaparinux versus enoxaparin after TKA in Japanese patients.
Orthopedics
PUBLISHED: 04-18-2013
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Fondaparinux and enoxaparin are useful for preventing venous thromboembolism after total knee arthroplasty (TKA), but both drugs have associated complications. The purpose of this study was to clarify the risks associated with use of these drugs in Japanese patients who underwent TKA.A total of 575 patients (935 knees) underwent TKA and were retrospectively reviewed; 277 patients (454 knees) were treated with fondaparinux and 298 patients (481 knees) were treated with enoxaparin. The authors investigated the incidences of deep venous thrombosis of the lower limbs and pulmonary embolism to evaluate venous thromboembolism, knee enlargement compared with the preoperative size, incidence of subcutaneous knee hematoma, and other complications. No significant differences were observed between the 2 drugs regarding the incidences of deep venous thrombosis and pulmonary embolism. However, fondaparinux use resulted in knee enlargement (P<.0005) and subcutaneous hematoma of the knee (P=.035) significantly more often than enoxaparin use. Conversely, enoxaparin use significantly caused the elevation of alanine aminotransferase (one of the liver enzymes) at a higher rate than fondaparinux (30.1% vs 8.3%, respectively; P<.0001). However, the increased alanine aminotransferase levels were transient, and no patient exhibited symptoms of abnormal liver function, such as jaundice or cutaneous pruritus.Fondaparinux and enoxaparin were both effective in preventing venous thromboembolism in Japanese patients undergoing elective TKA. However, both drugs had some adverse effects. It is important to be aware of these potential risks when prescribing these drugs.
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Dissociation of hemodynamic and electrocardiographic indexes of myocardial ischemia in pigs with hibernating myocardium and sudden cardiac death.
Am. J. Physiol. Heart Circ. Physiol.
PUBLISHED: 04-12-2013
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Many survivors of sudden cardiac death (SCD) have normal global ventricular function and severe coronary artery disease but no evidence of symptomatic ischemia or infarction before the development of lethal ventricular arrhythmias, and the trigger for ventricular tachycardia (VT)/ventricular fibrillation (VF) remains unclear. We sought to identify the role of spontaneous ischemia and temporal hemodynamic factors preceding SCD using continuous telemetry of left ventricular (LV) pressure and the ECG for periods up to 5 mo in swine (n = 37) with hibernating myocardium who experience spontaneous VT/VF in the absence of heart failure or infarction. Hemodynamics and ST deviation at the time of VT/VF were compared with survivors with hibernating myocardium as well as sham controls. All episodes of VT/VF occurred during sympathetic activation and were initiated by single premature ventricular contractions, and the VT degenerated into VF in ? 30 s. ECG evidence of ischemia was infrequent and no different from those that survived. Baseline hemodynamics were no different among groups, but LV end-diastolic pressure during sympathetic activation was higher at the time of SCD (37 ± 4 vs. 26 ± 4 mmHg, P < 0.05) and the ECG demonstrated QT shortening (155 ± 4 vs. 173 ± 5 ms, P < 0.05). The week before SCD, both parameters were no different from survivors. These data indicate that there are no differences in the degree of sympathetic activation or hemodynamic stress when VT/VF develops in swine with hibernating myocardium. The transiently elevated LV end-diastolic pressure and QT shortening preceding VT/VF raises the possibility that electrocardiographically silent subendocardial ischemia and/or mechanoelectrical feedback serve as a trigger for the development of SCD in chronic ischemic heart disease.
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Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
Am. J. Med. Genet. A
PUBLISHED: 04-11-2013
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Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of mutation confirmed OI type V in detail. Sixteen (nine familial and seven sporadic) patients were enrolled in the study. Blue sclera and dentinogenesis imperfecta were not evident in any patient. However, hypodontia in the permanent teeth, ectopic eruption, and short roots in molars were additionally observed in 11 patients. Of the radiographic abnormalities, cortical thickening and bony excrescence of interosseous margin of the ulna was the most common finding, followed by overgrowth of the olecranon and/or coronoid process of the ulna. Slender ribs and sloping of the posterior ribs with or without fractures were also a consistent finding. Hyperplastic callus was detected in 75% of patients and was commonly encountered at the femur. Heterotopic ossification in the muscles and tendon insertion sites were noted in four patients, which resulted in bony ankylosis or contracture of joints. The current study confirms common clinical and radiographic findings of OI type V and reports additional phenotypic information. These observations provide clues to recognize OI type V more promptly and guide to direct targeted molecular study. © 2013 Wiley Periodicals, Inc.
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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations.
Hum. Mutat.
PUBLISHED: 04-06-2013
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Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone abnormalities. Based on the mode of inheritance and radiographic features, at least three types of brachyolmia have been postulated. We recently identified an autosomal recessive form of brachyolmia that is caused by loss-of-function mutations of PAPSS2, the gene encoding PAPS (3-phosphoadenosine 5-phosphosulfate) synthase 2. To understand brachyolmia caused by PAPSS2 mutations (PAPSS2-brachyolmia), we extended our PAPSS2 mutation analysis to 13 patients from 10 families and identified homozygous or compound heterozygous mutations in all. Nine different mutations were found: three splice donor-site mutations, three missense mutations, and three insertion or deletion mutations within coding regions. In vitro enzyme assays showed that the missense mutations were also loss-of-function mutations. Phenotypic characteristics of PAPSS2-brachyolmia include short-trunk short stature, normal intelligence and facies, spinal deformity, and broad proximal interphalangeal joints. Radiographic features include platyspondyly with rectangular vertebral bodies and irregular end plates, broad ilia, metaphyseal changes of the proximal femur, including short femoral neck and striation, and dysplasia of the short tubular bones. PAPSS2-brachyolmia includes phenotypes of the conventional clinical concept of brachyolmia, the Hobaek and Toledo types, and is associated with abnormal androgen metabolism.
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Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
J. Hum. Genet.
PUBLISHED: 04-04-2013
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Opsismodysplasia is an autosomal recessive skeletal disorder characterized by facial dysmorphism, micromelia, platyspondyly and retarded bone maturation. Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. We performed an exome sequencing in two unrelated Japanese families with opsismodysplasia and identified a novel INPPL1 mutation, c.1960_1962delGAG, in one family. The mutation is predicted to result in an in-frame deletion (p.E654del) within the central catalytic 5-phosphate domain. Our results further support that INPPL1 is the disease gene for opsismodysplasia and that opsismodysplasia has genetic heterogeneity.
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Serum interleukin-6 associated with hepatocellular carcinoma risk: a nested case-control study.
Int. J. Cancer
PUBLISHED: 03-30-2013
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Inflammatory markers have been associated with increased risk of several cancers, including colon, lung, breast and liver, but the evidence is inconsistent. We conducted a nested case-control study in the longitudinal cohort of atomic-bomb survivors. The study included 224 hepatocellular carcinoma (HCC) cases and 644 controls individually matched to cases on gender, age, city and time and method of serum storage, and countermatched on radiation dose. We measured C-reactive protein (CRP) and interleukin (IL)-6 using stored sera obtained within 6 years before HCC diagnosis from 188 HCC cases and 605 controls with adequate volumes of donated blood. Analyses with adjustment for hepatitis virus infection, alcohol consumption, smoking habit, body mass index (BMI) and radiation dose showed that relative risk (RR) of HCC [95% confidence interval (CI)] in the highest tertile of CRP levels was 1.94 (0.72-5.51) compared to the lowest tertile (p = 0.20). RR of HCC (95% CI) in the highest tertile of IL-6 levels was 5.12 (1.54-20.1) compared to the lowest tertile (p = 0.007). Among subjects with BMI > 25.0 kg/m(2) , a stronger association was found between a 1-standard deviation (SD) increase in log IL-6 and HCC risk compared to subjects in the middle quintile of BMI (21.3-22.9 kg/m(2) ), resulting in adjusted RR (95% CI) of 3.09 (1.78-5.81; p = 0.015). The results indicate that higher serum levels of IL-6 are associated with increased HCC risk, independently of hepatitis virus infection, lifestyle-related factors and radiation exposure. The association is especially pronounced among subjects with obesity.
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Prognostic delineation of papillary cholangiocarcinoma based on the invasive proportion: A single-institution study with 184 patients.
Surgery
PUBLISHED: 03-27-2013
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Intraductal papillary neoplasm of the bile duct (IPNB) is a presumed precursor lesion in biliary carcinogenesis, clinicopathologically overlapping with papillary cholangiocarcinomas (PCC); however, because IPNB has no standardized definition, this relationship remains equivocal. Herein, we aimed to develop a new prognostic model for PCC by focusing on the invasive proportion.
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Yus flap for lower lip and reverse Yus flap for upper lip reconstruction: 20 years experience.
Br J Oral Maxillofac Surg
PUBLISHED: 03-21-2013
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Reconstruction of defects of the lip caused by cancer with its requirements of a complicated anatomical structure, important physiological function, and acceptable cosmetic result, is a challenge for oral and maxillofacial and plastic surgeons. A method that combines rotation and advancement flaps was described by Yu in 1989 for the reconstruction of defects of the lower lip. In our department between January 1992 and December 2012, 8 patients had reverse Yu flaps for the reconstruction of upper lip defects and 56 patients had classic Yu flaps for lower lip defects. Patients with defects located laterally to the upper lips, ranging from ? to ½, had unilateral reverse Yu flaps, and bilateral procedures were done for defects of less than ? of the lips. However, if the defects were located in the centre of the upper lips, between ? and ½, they were treated with bilateral reverse Yu flaps. Patients with defects between? and ? of lower lips had unilateral Yu flaps, and if the defects were wider than ? of the lower lips, the procedure was bilateral. No flap failed and desirable functional and aesthetic outcomes were recorded in all cases. Here we report our experience with the Yu flap for the benefit of other surgeons.
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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.