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Desmoplakin (Dsp) is a component of desmosomal cell-cell junctions that interacts with the cadherin complex and cytoskeletal intermediate filaments. In addition to its function as an adhesion component, Dsp is involved in various biological processes, such as gene expression, differentiation, and migration. Dsp is specifically expressed in the hippocampal dentate gyrus (DG) in the central nervous system. However, it is unclear how Dsp impacts hippocampal function and its related behaviors. Using an adeno-associated virus knockdown system in mice, we provide evidence that Dsp in the DG maintains hippocampal functions, including neuronal activity and adult neurogenesis, and contributes to anxiolytic-like effects. Dsp protein is mostly localized in mature granule cells in the adult DG. Dsp knockdown in the DG resulted in a lowered expression of an activity-dependent transcription factor FosB, and an increased expression of mature neuronal markers, such as calbindin. In addition, the suppression of Dsp decreases serotonin responsiveness at the DG output mossy fiber synapses and alters adult neurogenic processes in the subgranular zone of the DG. Moreover, DG-specific Dsp knockdown mice showed an increase in anxiety-like behaviors. Taken together, this research uncovers an unexplored function for Dsp in the central nervous system and suggests that Dsp in the DG may function as a regulator to maintain proper neuronal activation and adult neurogenesis, and contribute to the adaptation of emotion-related behavior.
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BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression. CASE PRESENTATION: A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected. CONCLUSIONS: In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient.
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BACKGROUND: Adenocarcinoma in an inverted Meckel's diverticulum with intussusception has not been reported to date. We discuss the clinical issues concerning this rare condition and review the relevant literature. CASE PRESENTATION: A 71-year-old Japanese female was referred to our hospital for further investigation of severe anemia. Computed tomography revealed a tumorous lesion in the terminal ileum. Capsule endoscopy did not provide detailed images. Exploratory laparoscopy revealed intussusception in the terminal ileum. An intraluminal tumor 70 cm proximal to the ileocecal valve was observed to be the lead point. Partial resection including the tumor was performed. Macroscopically, a polypoid tumor at the tip of an inverted diverticulum-like structure was observed. The tumor was histologically composed of adenocarcinoma accompanied by gastric and pyloric gland metaplasia in the background mucosa, which was confirmed by immunohistochemical staining. Based on these characteristics, this tumor is considered to have developed from the ectopic gastric mucosa in a Meckel's diverticulum. CONCLUSIONS: When we encounter patients with unfamiliar lesions in the small bowel, we need to differentiate Meckel's diverticulum related disease. Meckel's diverticulum can invert into the lumen of the small bowel and cause an intussusception, and has potential of malignant transformation.
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Oryza AA-genome complex comprises five wild species, O. rufipogon, O. barthii, O. longistaminata, O. glumaepatula, and O. meridionalis. Evolutionary relationships among these five wild species have remained contentious and inconclusive. We found that intron 20 of PolA1, a single-copy nuclear gene, was short (S-type: 141-142 bp) in O. rufipogon, O. barthii, and O. glumaepatula, while long (L-type: ca. 1.5 kb) introns were apparent in O. longistaminata and O. meridionalis. Because Oryza species containing BB, CC, EE, FF, and GG genome showed L-type introns, the S-type intron was probably derived from the L-type intron by the deletion of a 1.4 kb fragment through intramolecular homologous recombination between two tandem TTTTGC repeats. Excluding the large deletion sequence, intron 20 sequence of O. barthii was identical to that of O. longistaminata. As more than 3,470 accessions of O. rufipogon and O. sativa also contained the same intron 20 sequence with O. longistaminata except for single T-nucleotide deletion, which was shared with O. glumaepatuala, the deletion of the T-nucleotide probably occurred in the L-type intron 20 of O. logistaminata. Deletions of a large 1.4 kb fragment and single T-nucleotide within the intron 20 of PolA1 gene were considered as useful DNA markers to study the evolutionary relationships among Oryza AA-genome species.
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Background: Prophylactic negative-pressure wound therapy (NPWT) to prevent surgical site infection (SSI) may be effective for severely contaminated wounds. We investigated the safety and efficacy of NPWT with delayed primary closure (DPC) for preventing SSI. Methods: For patients with contaminated and dirty/infected surgical wounds after an emergency laparotomy, the abdominal fascia was closed with antibacterial absorbent threads and the skin was left open. Negative pressure (-80 mmHg) was applied through the polyurethane foam, which was replaced on postoperative days 3 and 7. DPC was performed when sufficient granulation was observed. The duration and adverse events of NPWT, the development of SSI, and the postoperative hospital stay were retrospectively reviewed. Results: We analyzed the cases of patients with contaminated (n = 15) and dirty/infected wounds (n = 7). The median duration of NPWT was 7 days (range 5-11 days). NPWT was discontinued in one (4.5%) patient due to wound traction pain. SSI developed in seven patients (31.8%), with incisional SSI in one (4.5%) and organ/space SSI in six (27.3%). The median postoperative hospital stay was 17 days (range 7-91 days). There was no significant relationship between postoperative hospital stay and wound classification (P=0.17) or type of SSI (P=0.07). Conclusion: Prophylactic NPWT with DPC was feasible and may be particularly suitable for severely contaminated wounds, with a low incidence of incisional SSI.
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Raman spectroscopy was applied to characterize at the molecular scale the nutritional quality of the Japanese Koshihikari rice cultivar in comparison with other renowned rice cultivars including Carnaroli from Italy, Calrose from the USA, Jasmine rice from Thailand, and Basmati from both India and Pakistan. For comparison, two glutinous (mochigome) cultivars were also investigated. Calibrated and validated Raman analytical algorithms allowed quantitative determinations of: (i) amylopectin and amylose concentrations, (ii) fractions of aromatic amino acids, and (iii) protein content and secondary structure. The Raman assessments non-destructively linked the molecular composition of grains to key nutritional parameters and revealed a complex intertwine of chemical properties. The Koshihikari cultivar was rich in proteins (but with low statistical relevance as compared to other investigated cultivars) and aromatic amino acids. However, it also induced a clearly higher glycemic impact as compared to long-grain cultivars from Asian countries. Complementary to genomics and wet-chemistry analyses, Raman spectroscopy makes non-destructively available factual and data-driven information on rice nutritional characteristics, thus providing customers, dietitian nutritionists, and producers with a solid science-consolidated platform.
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The nutritional quality of rice is contingent on a wide spectrum of biochemical characteristics, which essentially depend on rice genome, but are also greatly affected by growing/environmental conditions and aging during storage. The genetic basis and related identification of genes have widely been studied and rationally linked to accumulation of micronutrients in grains. However, genetic classifications cannot catch quality fluctuations arising from interannual, environmental, and storage conditions. Here, we propose a quantitative spectroscopic approach to analyze rice nutritional quality based on Raman spectroscopy, and disclose analytical algorithms for the determination of: (i) amylopectin and amylose concentrations, (ii) aromatic amino acids, (iii) protein content and structure, and (iv) chemical residues. The proposed Raman algorithms directly link to the molecular composition of grains and allow fast/non-destructive determination of key nutritional parameters with minimal sample preparation. Building upon spectroscopic information at the molecular level, we newly propose to represent the nutritional quality of labeled rice products with a barcode specially tailored on the Raman spectrum. The Raman barcode, which can be stored in databases promptly consultable with barcode scanners, could be linked to diet applications (apps) to enable a rapid, factual, and unequivocal product identification based on direct molecular screening.
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INTRODUCTION: Near-infrared fluorescence cholangiography during a laparoscopic cholecystectomy has become widely accepted as a useful auxiliary tool to visualize the extrahepatic biliary structures. We investigated the feasibility and educational value of a method with longer interval between the administration of indocyanine green and the imaging of these structures. METHODS: Approximately 18 hours before their surgery, patients (n = 51) were intravenously administered 0.25 mg/kg of indocyanine green. Each laparoscopic cholecystectomy was performed under fluorescence imaging in combination with white-light imaging. Operative outcomes including visualization of the extrahepatic biliary structures and operative time were compared between the patients on whom board-certified surgeons operated (feasibility phase; n = 18) and the patients on whom a surgery resident operated (educational phase; n = 33). RESULTS: There were no adverse events related to the longer interval method. The visualization rates of extrahepatic biliary structures were comparable between the two phases. Both the mean time to divide the cystic duct and the mean time to remove the gallbladder in the educational phase were significantly longer than those in the feasibility phase (68.2 vs 24.4 minutes and 30.2 vs 15.8 minutes, P < .001 each). There was no significant difference in other operative outcomes. The operative time learning curve did not decrease with a resident's experience. CONCLUSIONS: Fluorescence cholangiography with the longer interval method was feasible and could identify the extrahepatic biliary structures irrespective of the surgeon's experience; however, it did not decrease the operative time with experience.
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Colecistectomía Laparoscópica , Colangiografía , Colorantes , Estudios de Factibilidad , Fluorescencia , Humanos , Verde de IndocianinaRESUMEN
Analytical algorithms based on Raman spectroscopy are proposed for the determination of amylopectin and amylose concentrations in polished white rice, and applied to characterize and compare linear and branched polysaccharide structures in nine different types of Japanese rice. A selected algorithm used symmetric bending vibrations of the COC glycosidic linkage from a relatively narrow spectral zone between 830 and 895 cm-1. It specifically compared the intensity of Raman signals from two types of bending common to both starch components (C1-O-C5 and C1-O-C4 at 868 and 855 cm-1, respectively) and that at the branch point peculiar to amylopectin (C1-O-C6 at 844 cm-1). Raman data were confronted with data collected by conventional amylose-iodine colorimetry method. Consistency was found between Raman and colorimetric methods over the entire series of tested rice cultivars, thus validating the newly proposed spectroscopic algorithm. The amylose content of the tested rice species broadly varied between 1.2 and 20.4%. The proposed Raman algorithm allows fast and nondestructive determination of amylose content in rice with minimal sample preparation. These characteristics might be key in the development of portable Raman devices capable to promptly screen polysaccharides in different rice cultivars with respect to their interannual and plantation-related fluctuations.
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Amilosa/análisis , Oryza/metabolismo , Algoritmos , Amilopectina/química , Colorimetría , Yodo/química , Japón , Espectrometría Raman , Almidón/químicaRESUMEN
A 48-year-old woman with a 9-year-history of anorexia nervosa (AN) was admitted complaining of generalized bone pain. Blood tests showed hypocalcemia and hyperphosphatasemia, and a radiological survey revealed multiple rib fractures, suggesting complication with osteomalacia. Two years earlier, she had undergone subtotal colectomy for colon cancer. Her serum 25-hydroxy vitamin D concentration was below the detectable level. In addition to a poor nutritional intake and insufficient sun exposure, malabsorption of fat-soluble substances in the intestine and phosphate loss from the kidneys might have contributed to the development of her osteomalacia.
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Anorexia Nerviosa , Hipocalcemia , Osteomalacia , Deficiencia de Vitamina D , Anorexia Nerviosa/complicaciones , Huesos , Femenino , Humanos , Persona de Mediana Edad , Osteomalacia/diagnóstico , Osteomalacia/etiología , Vitamina D , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/diagnósticoRESUMEN
Primary malignant melanoma of a female urethra is extremely rare. A 71-year-old female was referred to our hospital with bleeding from the urethral meatus. Magnetic resonance imaging revealed a mass of 25 mm in diameter at the external urethral meatus. She underwent anterior pelvic exenteration and ileal conduit diversion. Histopathological findings were urethral malignant melanoma, pT3apN0M0 (stage IIA). Nine months after surgery, computed tomography revealed a local recurrence in the pelvis, the patient was treated with immunotherapy using combined nivolumab and ipilimumab; however, she did not respond to treatment and died 22 months following diagnosis.
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Handicap theory explains that exaggeratedly developed sexual traits become handicaps but serve as honest signals of quality. Because very weak signals are less likely to provide benefits than to simply incur costs, it is interesting to elucidate how sexual traits are generated and developed during evolution. Many stalk-eyed fly species belonging to tribe Diopsini exhibit marked sexual dimorphism in their eye spans, and males with larger eye spans have larger bodies and reproductive capacities, which are more advantageous in terms of contests between males and acceptance for mating by females. In this study, we investigated the role of eye span in a more primitive species, Sphyracephala detrahens, in tribe Sphyracephalini with less pronounced sexual dimorphism. Male-male, female-female, and male-female pairs showed similar contests influenced by eye span, which was correlated with nutrition and reproductive ability in both sexes. During mating, males did not distinguish between sexes and chose individuals with larger eye spans, whereas females did not choose males. However, males with larger eye spans copulated repeatedly. These results indicate that, in this species, eye span with a small sexual difference does not function in sex recognition but affects contest and reproductive outcomes, suggesting the primitive state of sexual dimorphism.
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Dípteros/fisiología , Modelos Biológicos , Conducta Sexual Animal , Animales , Evolución Biológica , Dípteros/anatomía & histología , Ojo/anatomía & histología , Femenino , Masculino , Caracteres SexualesRESUMEN
Preserved rice (Oryza sativa L.) seeds stored for nearly a century as an emergency food stocks from the Mikawa area were investigated for their genetic diversity. Morphologically, the seeds appeared to be typical Japonica. One chloroplast INDEL petN-trnC, two nuclear INDELs Acp1 and Cat1, and three SNP markers in Starch synthase IIa were amplified to characterize the molecular profile. The efficiency of amplification varied among the markers. Most of preserved seeds were classified as Japonica, but some were identified as Indica. The heterozygous genotypes detected suggested a high frequency of outcrossing at that time. On the other hand, 21 SSR markers showed quite a high degree of amplification efficiency. Principal coordinate analysis and STRUCTURE analysis based on the SSR polymorphisms proved that the preserved seeds contained alleles that were not detected among current landraces and breeding varieties, and there were the expected three subpopulations among 96 preserved seeds. These results indicated that these preserved seeds from Mikawa area in Meiji era had high genetic diversity and consisted of some subpopulations including Indica landraces with typical Japonica seed shape. These lines were considered to have been lost from current genetic resources.
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A 70-year-old man with insulinoma-associated antigen-2 autoantibodies developed diabetes mellitus (DM) without ketoacidosis after starting nivolumab to treat advanced gastric cancer. He subsequently exhibited preserved insulin-secretion capacity for over one year. Immune checkpoint inhibitors (ICIs) infrequently cause type 1 DM associated with the rapid loss of insulin secretion and ketoacidosis as an immune-related adverse event. ICIs may also cause non-insulin-dependent DM by inducing insulin resistance if there is islet autoantibody-related latent beta-cell dysfunction. The present case highlights the importance of testing blood glucose levels regularly to diagnose DM in patients treated with ICIs, even if they do not have diabetic ketoacidosis.
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Antineoplásicos Inmunológicos/uso terapéutico , Diabetes Mellitus Tipo 2/inducido químicamente , Insulinoma/complicaciones , Insulinoma/tratamiento farmacológico , Nivolumab/uso terapéutico , Neoplasias Gástricas/complicaciones , Neoplasias Gástricas/tratamiento farmacológico , Anciano , Humanos , Masculino , Proteínas de la MembranaRESUMEN
We assessed genetic variation in rice germplasm in northern Laos and Vientiane province from polymorphism data of SSR markers. We classified 314 accessions into three clusters; Ia (corresponding to the lowland Japonica Group), Ib (upland Japonica Group) and II (Indica Group). The accessions of cluster Ib grew mainly in mountainous fields, and those of cluster II grew commonly in basins and along rivers. The few accessions of cluster Ia grew in only three provinces: Houaphanh, Xiangkhouang and Vientiane. Lowland cultivars in cluster II were predominant in Vientiane. Variations in heading date under short-day conditions in 2014 and long-day conditions in 2015 indicate that many accessions were sensitive to the photoperiod on account of complex genetic mechanisms underlying both photoperiod sensitivity and basic vegetative growth. A total of 219 among whole accessions were classified into 6 groups: E1-3 and L1-3. E2 and E3 were dominant in clusters Ib and II; E1 and L1-3 were minor groups. These results demonstrate characteristic distributions of the Indica and Japonica Group's germplasms in northern Laos and their genetic variation in heading date.
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BACKGROUND: Carcinoma of the ampulla of Vater with distant metastases is regarded as unresectable. Systemic chemotherapy is basically the treatment of choice for such tumors. CASE PRESENTATION: A 68-year-old woman was referred to our hospital and diagnosed with carcinoma of the ampulla of Vater with lymph node and multiple liver metastases. She underwent systemic chemotherapy with a combination of gemcitabine and cisplatin. After 19 months of treatment, the primary tumor and liver metastases were difficult to detect on follow-up images. Shrinkage of the enlarged lymph nodes was also confirmed. Surgical resection was performed with curative intent after a multidisciplinary meeting. Pathological examination of the resected specimen showed no residual tumors. Systemic chemotherapy achieved a pathological complete response. The postoperative course was uneventful, and the patient remained free of recurrent disease at 10 months of follow-up. CONCLUSION: This case shows the possibility of conversion surgery after systemic chemotherapy for carcinoma of the ampulla of Vater.
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Background: Bilateral synchronous renal pelvic carcinomas are rare diseases. Complete urinary exenteration or kidney-preserving procedures are two different options that confer different benefits to the patient depending on the clinical situation. Case Presentation: A 69-year-old woman with bilateral synchronous renal pelvic carcinomas underwent laparoscopic complete urinary tract exenteration. Although dissection was difficult because of postoperative adhesions, the surgery was completed with minimal blood loss. Conclusion: Laparoscopic complete urinary tract exenteration allows minimally invasive surgery with minimal blood loss.
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A 76-year-old male received concurrent chemoradiotherapy, at a dose of 60 Gy with low-dose 5-fluorouracil, for cT1bN0M0 squamous cell carcinoma of the mid-thoracic esophagus. Because his primary tumor relapsed with mediastinal and right supraclavicular node metastasis 4 months after completion of chemoradiotherapy, right transthoracic esophagectomy with mediastinal and right cervical lymphadenectomy was performed. However, metastatic tumors developed deep beneath the anterior border of the trapezius muscle 2 months after esophagectomy. En bloc dissection of the adipose tissue including the tumor and the transverse cervical artery was performed, followed by adjuvant radiotherapy of 50.4 Gy to the area of dissection. The patient died of pneumonia 11 months after metastasectomy, with locally recurrent disease. We have had three cases of this unusual lymph nodes metastasis from cancer of the thoracic esophagus to date and here present the characteristic imaging findings and the possible mechanism of this unusual lymph node metastasis.