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1.
Acta Neuropathol Commun ; 7(1): 118, 2019 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-31345270

RESUMO

Intracellular mislocalization of TAR DNA-binding protein 43 (TDP-43), a nuclear DNA/RNA-binding protein involved in RNA metabolism, is a pathological hallmark of amyotrophic lateral sclerosis (ALS). Although the aggregation-prone, TDP-43 C-terminal domain is widely considered as a key component of TDP-43 pathology in ALS, recent studies including ours suggest that TDP-43 N-terminal fragments (TDP-∆C) may also contribute to the motor dysfunction in ALS. However, the specific pathological functions of TDP-43 N-terminal fragments in mice have not been elucidated. Here, we established TDP-∆C knock-in mice missing a part of exon 6 of murine Tardbp gene, which encodes the C-terminal region of TDP-43. Homozygous TDP-∆C mice showed embryonic lethality, indicating that the N-terminal domain of TDP-43 alone is not sufficient for normal development. In contrast, heterozygous TDP-∆C mice developed normally but exhibited age-dependent mild motor dysfunction with a loss of C-boutons, large cholinergic synaptic terminals on spinal α-motor neurons. TDP-∆C protein broadly perturbed gene expression in the spinal cords of aged heterozygous TDP-∆C mice, including downregulation of Notch1 mRNA. Moreover, the level of Notch1 mRNA was suppressed both by TDP-43 depletion and TDP-∆C expression in Neuro2a cells. Decreased Notch1 mRNA expression in aged TDP-∆C mice was associated with the age-dependent motor dysfunction and loss of Akt surviving signal. Our findings indicate that the N-terminal region of TDP-43 derived from TDP-∆C induces the age-dependent motor dysfunction associated with impaired Notch1-Akt axis in mice.

2.
Acta Odontol Scand ; 77(7): 525-533, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31190586

RESUMO

Objectives: The aim of cross-sectional study was to investigate the association between sensory processing patterns and dental fear among female undergraduates. Material and methods: Three hundred and ten female university students were included in the present study. Dental fear and sensory processing patterns were measured using the Dental Fear Survey and Adolescent/Adult Sensory Profile with other possible confounders, respectively. Sensory processing patterns were categorized into sensory sensitivity, sensory avoidance, low registration and sensation seeking. We conducted structural equation modelling based on the hypothesis that sensory processing directly affects dental fear, including the confounding role of negative experiences with dentistry, autistic traits and the mediating role of trait anxiety. Results: Based on our proposed model, sensory processing patterns, excluding sensation seeking and negative experiences significantly contributed to dental fear (ß = 0.33, p < .001 and ß = 0.32, p < .001, respectively) and autistic traits and trait anxiety did not significantly contribute to dental fear. Conclusions: Extreme sensory processing patterns seem to be associated with a high level of dental fear; thus, the difference in sensory processing might play an important role in the aetiology of dental fear.

3.
Brain Dev ; 41(5): 474-479, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30723005

RESUMO

Whole-exome sequencing (WES) can comprehensively detect both pathogenic single nucleotide variants and copy number variants, enabling identification of a coexistence of two or more genetic etiologies. Here we report a family consisting of individuals with Becker muscular dystrophy and rippling muscle disease. The proband, a 12-year-old boy, was diagnosed with Becker muscular dystrophy with exon 45-55 DMD deletions at age 4. He had myalgia and muscle stiffness. Interestingly, percussion-induced muscle mounding (PIMM), which is a characteristic of rippling muscle disease, was also observed. The father also showed muscle stiffness, myalgia, fatigability, muscle rippling and PIMM. WES revealed a missense CAV3 mutation (NM_033337.2:c.80G>A) in the proband, the father, the oldest sister and the grandmother, who had an elevated serum creatine kinase (CK) level. The c.80G>A mutation was considered pathogenic according to ACMG guidelines. The second older sister, the mother and the paternal grandfather did not have the CAV3 mutation and had normal CK. Using two programs for copy number analysis with WES data, we successfully identified the DMD deletion in the proband, the older sister and the mother. We revealed the coexistence of the CAV3 mutation and the DMD deletion in a family with complex muscular diseases and confirmed the usefulness of WES for elucidating such etiology.


Assuntos
Caveolina 3/genética , Distrofina/genética , Doenças Musculares/genética , Distrofia Muscular de Duchenne/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/metabolismo , Doenças Musculares/fisiopatologia , Distrofia Muscular de Duchenne/metabolismo , Distrofia Muscular de Duchenne/fisiopatologia , Linhagem
4.
Fertil Steril ; 110(3): 443-451, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30098696

RESUMO

OBJECTIVE: To compare physical and cognitive development of babies born after round spermatid injection (ROSI) with those born after natural conception. DESIGN: Comparison of efficiencies of ROSI and ICSI using testicular spermatozoa, performed in the St. Mother Clinic. Physical and cognitive development of ROSI babies recorded by parents in the government-issued Mother-Child Handbook was checked and verified by attending pediatricians. Data included baby's weight gain and response to parents' voice/gesture. SETTING: Assisted reproduction technology practice. PATIENT(S): A total of 721 men participated in ROSI; 90 ROSI babies were followed for 2 years for their physical and cognitive development. Control subjects were 1,818 naturally born babies. INTERVENTION(S): Surgical retrieval of spermatogenic cells from testes; selection and injection of round spermatids into oocytes; oocyte activation, in vitro culture of fertilized eggs, and embryo transfer to mothers. MAIN OUTCOME MEASURE(S): Physical and cognitive development of ROSI babies (e.g., body weight increase, response to parents, and understanding and speaking simple language) compared with naturally born babies. RESULT(S): Of 90 ROSI babies, three had congenital aberrations at birth, which corrected spontaneously (ventricular septa) or after surgery (cleft lip and omphalocele). Physical and cognitive development of ROSI babies was similar to those of naturally born babies. CONCLUSION(S): There were no significant differences between ROSI and naturally conceived babies in either physical or cognitive development during the first 2 years after birth. CLINICAL TRIAL REGISTRATION NUMBER: UMIN Clinical Trials Registry UMIN000006117.

5.
Anesth Prog ; 65(2): 124-126, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29952643

RESUMO

Intravenous sedation (IVS) is commonly used to complete dental treatment for uncooperative pediatric patients. Propofol (PRO) is widely used for IVS because of its short context sensitive half-time and amnestic effect. However, administering PRO to patients who have a history of egg anaphylaxis is still somewhat controversial. The evidence that supports the potential risks for allergic reactions following PRO use in patients with egg allergies is limited with some anesthesiologists recommending against its use in these patients. Alternative drug regimens for procedural sedation in this population are therefore desirable. Dexmedetomidine (DEX), a selective α-2 agonist, has antianxiety and sedative properties and has been widely used not only for procedural sedation with mild inhibitory effects on respiration but also during minor surgeries for its analgesic effect. In this paper, we describe the successful administration of a combination of DEX and low-dose midazolam (MDZ) for sedation in an uncooperative pediatric patient. Both DEX and MDZ have been reported as safe and useful sedatives for dental treatment, and their combination may provide a helpful option for IVS of pediatric patients for whom PRO is not preferred.

6.
Nihon Eiseigaku Zasshi ; 73(2): 235-240, 2018.
Artigo em Japonês | MEDLINE | ID: mdl-29848876

RESUMO

OBJECTIVES: The stress check program has been part of annual employees' health screening since 2015. Employees are recommended, but not obliged, to undergo the stress check offered. This study was designed to examine the factors associated with stress check attendance. METHODS: A total of 31,156 Japanese employees who underwent an annual health examination and a stress check service at an Occupational Health Service Center in 2016 participated in this study. Data from the annual health examination and stress check service included stress check attendance, date of attendance (if implemented), gender, age, workplace industry, number of employees at the workplace, and tobacco and alcohol consumption. Data were analyzed using multiple logistic regression. RESULTS: The mean rate of stress check attendance was 90.8%. A higher rate of stress check attendance was associated with a lower duration from the annual health examination, age ≥30 years, construction and transport industry, and 50-999 employees at the workplace. A lower rate of stress check attendance was associated with medical and welfare industry and ≥1,000 employees at the workplace. CONCLUSIONS: These findings provide insights into developing strategies for improving the rate of stress check attendance. In particular, stress check attendance may improve if the stress check service and annual health examination are conducted simultaneously.


Assuntos
Saúde Mental , Saúde do Trabalhador , Exame Físico , Testes Psicológicos , Estresse Psicológico/diagnóstico , Adolescente , Adulto , Fatores Etários , Consumo de Bebidas Alcoólicas , Feminino , Humanos , Japão , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Exame Físico/métodos , Testes Psicológicos/estatística & dados numéricos , Fumar , Estresse Psicológico/prevenção & controle , Fatores de Tempo , Local de Trabalho , Adulto Jovem
7.
Biochim Biophys Acta Mol Basis Dis ; 1864(6 Pt A): 2119-2130, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29551730

RESUMO

Dominant mutations in the gene encoding copper and zinc-binding superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS). Abnormal accumulation of misfolded SOD1 proteins in spinal motoneurons is a major pathological hallmark in SOD1-related ALS. Dissociation of copper and/or zinc ions from SOD1 has been shown to trigger the protein aggregation/oligomerization in vitro, but the pathological contribution of such metal dissociation to the SOD1 misfolding still remains obscure. Here, we tested the relevance of the metal-deficient SOD1 in the misfolding in vivo by developing a novel antibody (anti-apoSOD), which exclusively recognized mutant SOD1 deficient in metal ions at its copper-binding site. Notably, anti-apoSOD-reactive species were detected specifically in the spinal cords of the ALS model mice only at their early pre-symptomatic stages but not at the end stage of the disease. The cerebrospinal fluid as well as the spinal cord homogenate of one SOD1-ALS patient also contained the anti-apoSOD-reactive species. Our results thus suggest that metal-deficiency in mutant SOD1 at its copper-binding site is one of the earliest pathological features in SOD1-ALS.

8.
Cell Death Differ ; 25(12): 2130-2146, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29568058

RESUMO

There is compelling evidence that glial-immune interactions contribute to the progression of neurodegenerative diseases. The adaptive immune response has been implicated in disease processes of amyotrophic lateral sclerosis (ALS), but it remains unknown if innate immune signaling also contributes to ALS progression. Here we report that deficiency of the innate immune adaptor TIR domain-containing adaptor inducing interferon-ß (TRIF), which is essential for certain Toll-like receptor (TLR) signaling cascades, significantly shortens survival time and accelerates disease progression of ALS mice. While myeloid differentiation factor 88 (MyD88) is also a crucial adaptor for most TLR signaling pathways, MyD88 deficiency had only a marginal impact on disease course. Moreover, TRIF deficiency reduced the number of natural killer (NK), NK-T-lymphocytes, and CD8-T cells infiltrating into the spinal cord of ALS mice, but experimental modulation of these populations did not substantially influence survival time. Instead, we found that aberrantly activated astrocytes expressing Mac2, p62, and apoptotic markers were accumulated in the lesions of TRIF-deficient ALS mice, and that the number of aberrantly activated astrocytes was negatively correlated with survival time. These findings suggest that TRIF pathway plays an important role in protecting a microenvironment surrounding motor neurons by eliminating aberrantly activated astrocytes.

9.
BMC Musculoskelet Disord ; 19(1): 12, 2018 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-29325537

RESUMO

BACKGROUND: We conducted a questionnaire survey of shipyard workers to identify difficulties experienced due to orthopedic or musculoskeletal disorders. METHODS: The subjects were 375 workers (male, 361; female, 14) who worked for a single shipbuilding company. Questionnaire items covered the working environment, including work environment, working posture, and the weight of objects that the subject dealt with, as well as physical and lifestyle characteristics, namely smoking habits, drinking habits, sleeping hours, medications, exercise habits, and any weight gain of 20 kg or more since the age of 20. Subjects were also asked to indicate if they regularly experienced any of 17 listed difficulties in their daily lives, and to use an illustration of the human body to mark any body parts that were painful or hard to move. RESULTS: The mean age was 41.8 years (19-73 years). The lower and/or upper back was the most frequent site of pain (46.5%), followed by the shoulders (11.4%), knees (9.6%), and neck (5.3%). Maintaining a half-sitting posture was the most problematic activity of daily living. Back pain was less frequent in subjects who exercised regularly, and more common in those who worked with heavy loads or in narrow spaces. A multinomial logistic regression analysis showed that absence from work was more common in subjects with back pain who had gained weight since their youth, who smoked, who used fire while welding metal, or who worked in a lying posture. While 35.4% of subjects had experienced absence from work due to musculoskeletal pain, only 5.1% were permitted by their employer to alter their work content or reduce their workload. CONCLUSIONS: These results indicate that a large number of shipyard workers have difficulties in their work and daily life activities due to back pain. To prevent worsening of pain and to reduce work absence, it is important to provide appropriate training to minimize the risk factors for back pain that were identified in this study.


Assuntos
Dor nas Costas/epidemiologia , Indústria da Construção/tendências , Doenças Profissionais/epidemiologia , Tolerância ao Trabalho Programado , Adulto , Idoso , Dor nas Costas/diagnóstico , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/diagnóstico , Prevalência , Fatores de Risco , Tolerância ao Trabalho Programado/fisiologia , Carga de Trabalho , Local de Trabalho
10.
Pharmacol Rep ; 70(1): 29-36, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29306760

RESUMO

BACKGROUND: N-acetyl-p-aminophenol (APAP, acetaminophen, paracetamol) is a widely used analgesic/antipyretic with weak inhibitory effects on cyclooxygenase (COX) compared to non-steroidal anti-inflammatory drugs (NSAIDs). The mechanism of action of APAP is mediated by its metabolite that activates transient receptor potential channels, including transient receptor potential vanilloid 1 (TRPV1) and TRP ankyrin 1 (TRPA1) or the cannabinoid receptor type 1 (CB1). However, the exact molecular mechanism and target underlying the cellular actions of APAP remain unclear. Therefore, we investigated the effect of APAP on osteoblastic differentiation and cell migration, with a particular focus on TRP channels and CB1. METHODS: Effects of APAP on osteoblastic differentiation and cell migration of MC3T3-E1, a mouse pre-osteoblast cell line, were assessed by the increase in alkaline phosphatase (ALP) activity, and both wound-healing and transwell-migration assays, respectively. RESULTS: APAP dose-dependently inhibited osteoblastic differentiation, which was well correlated with the effects on COX activity compared with other NSAIDs. In contrast, cell migration was promoted by APAP, and this effect was not correlated with COX inhibition. None of the agonists or antagonists of TRP channels and the CB receptor affected the APAP-induced cell migration, while the effect of APAP on cell migration was abolished by down-regulating TRPV4 gene expression. CONCLUSION: APAP inhibited osteoblastic differentiation via COX inactivation while it promoted cell migration independently of previously known targets such as COX, TRPV1, TRPA1 channels, and CB receptors, but through the mechanism involving TRPV4. APAP may have still unidentified molecular targets that modify cellular functions.


Assuntos
Acetaminofen/farmacologia , Diferenciação Celular/efeitos dos fármacos , Movimento Celular/efeitos dos fármacos , Inibidores de Ciclo-Oxigenase/farmacologia , Fibroblastos/efeitos dos fármacos , Osteoblastos/efeitos dos fármacos , Células 3T3 , Fosfatase Alcalina/genética , Fosfatase Alcalina/metabolismo , Animais , Relação Dose-Resposta a Droga , Fibroblastos/metabolismo , Camundongos , Osteoblastos/metabolismo , Receptor CB1 de Canabinoide/efeitos dos fármacos , Receptor CB1 de Canabinoide/genética , Receptor CB1 de Canabinoide/metabolismo , Transdução de Sinais/efeitos dos fármacos , Canais de Cátion TRPV/efeitos dos fármacos , Canais de Cátion TRPV/genética , Canais de Cátion TRPV/metabolismo
11.
J Neurochem ; 145(1): 80-89, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29282717

RESUMO

Cystatin C (CysC) is a major protein component of Bunina bodies, which are a pathological hallmark observed in the remaining motor neurons of patients with amyotrophic lateral sclerosis (ALS). Dominant mutations in the SOD1 gene, encoding Cu/Zn superoxide dismutase (SOD1), are causative for a subset of inherited ALS cases. Our previous study showed that CysC exerts a neuroprotective effect against mutant SOD1-mediated toxicity in vitro; however, in vivo evidence of the beneficial effects mediated by CysC remains obscure. Here we examined the therapeutic potential of recombinant human CysC in vivo using a mouse model of ALS in which the ALS-linked mutated SOD1 gene is expressed (SOD1G93A mice). Intracerebroventricular administration of CysC during the early symptomatic SOD1G93A mice extended their survival times. Administered CysC was predominantly distributed in ventral horn neurons including motor neurons, and induced autophagy through AMP-activated kinase activation to reduce the amount of insoluble mutant SOD1 species. Moreover, PGC-1α, a disease modifier of ALS, was restored by CysC through AMP-activated kinase activation. Finally, the administration of CysC also promoted aggregation of CysC in motor neurons, which is similar to Bunina bodies. Taken together, our findings suggest that CysC represents a promising therapeutic candidate for ALS.

12.
Reprod Med Biol ; 16(2): 188-195, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-29259468

RESUMO

Aim: The main cause of Klinefelter's syndrome (KS) has been believed to be XY sperm. Accordingly, in the intracytoplasmic sperm injection treatment of patients with KS, hereditary KS has been a concern. Therefore, this study attempted to estimate the risk before and after the assisted reproductive technology. Methods: First, in order to validate the safety of the gametes of the patients with KS, a fluorescent in situ hybridization (FISH) analysis, following an original cell identification method using 1052 testicular gametes of 30 patients, was conducted. Second, in the resultant 45 babies, cytogenetic and physical-cognitive screening data were analyzed. In addition, a first attempt was conducted to investigate the origin of the extra X chromosome in 11 patients with KS by using 12 X-chromosome short tandem repeat (STR) analysis in order to estimate the paternal contribution to KS. Results: No sex chromosomally abnormal gamete was found in the FISH analysis and the babies were normal genetically, physically, and cognitively. In the STR, it was confirmed that most (7/11) of the patients with KS resulted from the fertilization of the XX oocytes, suggesting that a baby with KS that had been reported previously might not have resulted from XY sperm. Conclusion: These results indicate that the risk of assisted reproductive technology for patients with KS is not as high as previously expected.

13.
Sci Rep ; 7(1): 14972, 2017 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-29097807

RESUMO

TDP-43 is an RNA-binding protein important for many aspects of RNA metabolism. Abnormal accumulation of TDP-43 in the cytoplasm of affected neurons is a pathological hallmark of the neurodegenerative diseases frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Several transgenic mouse models have been generated that recapitulate defects in TDP-43 accumulation, thus causing neurodegeneration and behavioural impairments. While aging is the key risk factor for neurodegenerative diseases, the specific effect of aging on phenotypes in TDP-43 transgenic mice has not been investigated. Here, we analyse age-dependent changes in TDP-43 transgenic mice that displayed impaired memory. We found the accumulation of abundant poly-ubiquitinated protein aggregates in the hippocampus of aged TDP-43 transgenic mice. Intriguingly, the aggregates contained some interneuron-specific proteins such as parvalbumin and calretinin, suggesting that GABAergic interneurons were degenerated in these mice. The abundance of aggregates significantly increased with age and with the overexpression of TDP-43. Gene array analyses in the hippocampus and other brain areas revealed dysregulation in genes linked to oxidative stress and neuronal function in TDP-43 transgenic mice. Our results indicate that the interneuron degeneration occurs upon aging, and TDP-43 accelerates age-dependent neuronal degeneration, which may be related to the impaired memory of TDP-43 transgenic mice.

14.
Sci Rep ; 7(1): 13708, 2017 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-29057926

RESUMO

One of the major challenges in cell-based cardiac regenerative medicine is the in vitro construction of three-dimensional (3D) tissues consisting of induced pluripotent stem cell-derived cardiomyocyte (iPSC-CM) and a blood vascular network supplying nutrients and oxygen throughout the tissue after implantation. We have successfully built a vascularized iPSC-CM 3D-tissue using our validated cell manipulation technique. In order to evaluate an availability of the 3D-tissue as a biomaterial, functional morphology of the tissues was examined by light and transmission electron microscopy through their implantation into the rat infarcted heart. Before implantation, the tissues showed distinctive myofibrils within iPSC-CMs and capillary-like endothelial tubes, but their profiles were still like immature. In contrast, engraftment of the tissues to the rat heart led the iPSC-CMs and endothelial tubes into organization of cell organelles and junctional apparatuses and prompt development of capillary network harboring host blood supply, respectively. A number of capillaries in the implanted tissues were derived from host vascular bed, whereas the others were likely to be composed by fusion of host and implanted endothelial cells. Thus, our vascularized iPSC-CM 3D-tissues may be a useful regenerative paradigm which will require additional expanded and long-term studies.

15.
FEBS Open Bio ; 7(9): 1338-1349, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28904863

RESUMO

Neuroglobin (Ngb) is a heme protein expressed in the vertebrate brain. We previously engineered a chimeric Ngb protein, in which module M1 of human Ngb is replaced by that of zebrafish Ngb, and showed that the chimeric ZHHH Ngb has a cell membrane-penetrating activity similar to that of zebrafish Ngb and also rescues cells from death caused by hypoxia/reoxygenation as does human Ngb. Recently, it was reported that overexpression of mammalian Ngb in neuronal cells induces neurite outgrowth. In this study, we performed neurite outgrowth assays of chimeric Ngb using rat pheochromocytoma PC12 cells. Addition of chimeric Ngb, but not human or zebrafish Ngb, exogenously to the cell medium induces neurite outgrowth. On the other hand, the K7A/K9Q chimeric Ngb double mutant, which cannot translocate into cells, did not induce neurite outgrowth, suggesting that the cell membrane-penetrating activity of the chimeric Ngb is crucial for its neurite outgrowth-promoting activity. We also prepared several site-directed chimeric Ngb mutants and demonstrated that residues crucial for neurite outgrowth-inducing activity of the chimeric Ngb are not exactly the same as those for its neuroprotective activity.

16.
J Hepatobiliary Pancreat Sci ; 24(10): 570-575, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28846834

RESUMO

BACKGROUND: Little information is available regarding microanatomy of lymphatic system in the ampulla of Vater, though it is of critical importance for an understanding of tumor progression via the lymphatics and determination of surgical strategy. The present study, therefore, aimed to demonstrate the distribution and microanatomical profiles on the lymphatic system in the ampulla. METHODS: The fine distribution and structure of the lymphatic vessels were investigated in the ampulla and the stomach by immunohistochemistry for lymphatic- (D2-40) and blood vascular- (CD31) specific markers and scanning electron microscopy. The densities of lymphatic and blood vessels were also compared. RESULTS: The duodenal papilla densely developed the lymphatics with distinct aspects of lymphatic capillaries, together with blood vessels. The density of lymphatic capillaries in the extramuscular layer in the ampulla was higher than those of both the other ampullary layers and the gastric extramuscular (subserosal) layer. CONCLUSIONS: The ampulla of Vater showed widespread lymphatic capillaries throughout the entire wall. The specific vascular system is suited to produce lymph everywhere and drain without via such a large vessel as lymphatic collector. This suggests that tumor cells invade the lymphatics and metastasize more easily in the ampulla than in the other gastrointestinal regions.


Assuntos
Ampola Hepatopancreática/anatomia & histologia , Ampola Hepatopancreática/ultraestrutura , Sistema Linfático/anatomia & histologia , Sistema Linfático/ultraestrutura , Microscopia Eletrônica de Varredura/métodos , Adulto , Ampola Hepatopancreática/cirurgia , Biópsia por Agulha , Cadáver , Humanos , Imuno-Histoquímica , Masculino , Sensibilidade e Especificidade
17.
Arch Orthop Trauma Surg ; 137(10): 1429-1434, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28849298

RESUMO

INTRODUCTION: Midflexion stability can potentially improve the outcome of total knee arthroplasty (TKA). The purpose of this study was to evaluate the correlation between varus-valgus stability at 0° of extension and 90° of flexion and that at the midflexion range in posterior-stabilized (PS)-TKA. MATERIALS AND METHODS: Forty-three knees that underwent PS-TKA were evaluated. Manual mild passive varus-valgus stress was applied to the knees, and the postoperative maximum varus-valgus stability was measured every 10° throughout range of motion, using a navigation system. Correlations between the stability at 0°, 90° of flexion, and that at each midflexion angle were evaluated using Spearman's correlation coefficients. RESULTS: The stability of 0° modestly correlated with that of 10°-20°, but it did not significantly correlate with that of 30°-80°. However, the stability of 90° strongly correlated with that of 60°-80°, modestly correlated with that of 40°-50°, weakly correlated with that of 20°-30°, and did not correlate with that of 10°. CONCLUSIONS: The present study confirmed the importance of acquiring stability at 90° flexion to achieve midflexion stability in PS-TKA. However, initial flexion stability did not strongly correlate with the stability at either 0° or 90°. Our findings can provide useful information for understanding varus-valgus stability throughout the range of motion in PS-TKA. Attention to soft tissue balancing is necessary to stabilize a knee at the initial flexion range in PS-TKA.


Assuntos
Artroplastia do Joelho/estatística & dados numéricos , Articulação do Joelho , Amplitude de Movimento Articular/fisiologia , Estudos de Coortes , Humanos , Articulação do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Período Pós-Operatório
19.
Am J Med Genet A ; 173(8): 2201-2209, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28599099

RESUMO

Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida. We determined the nucleotide sequences of the chromosomal breakpoints and found that the sizes of trisomy 2p and monosomy 5p segments were 18.77 and 17.89 Mb, respectively. NTDs were present in four of seven previously reported patients with trisomy 2p and monosomy 5p as well as in one of the two patients examined in the present study. Although the monosomy 5p of the nine patients were similar in size, the two patients reported here had the smallest size of trisomy 2p. When the clinical features of the nine patients were compared to the present two patients, the elder sister had postaxial polydactyly of the left foot in addition to the characteristic facial appearance and spina bifida, indicating that these features were associated with trisomy 2p24.3-pter. To our knowledge, this is the first study on spina bifida to determine the nucleotide sequences of breakpoints for trisomy 2p24.3-pter and monosomy 5p14.3-pter. Increased gene dosages of dosage-sensitive genes or genes at the trisomy segment (2p24.3) of the presented patients could be associated with NTDs of patients with trisomy 2p.


Assuntos
Síndrome do Miado do Gato/genética , Defeitos do Tubo Neural/genética , Disrafismo Espinal/genética , Trissomia/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 5/genética , Síndrome do Miado do Gato/fisiopatologia , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/fisiopatologia , Irmãos , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/fisiopatologia , Translocação Genética/genética , Trissomia/diagnóstico , Trissomia/fisiopatologia
20.
Mycoses ; 60(10): 634-637, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28436564

RESUMO

A mycological survey on feet was performed in a nursing home with a geriatric hospital to ascertain the prevalence of tinea lesions. Of 100 subjects, comprising 62 in the nursing home and 38 in the geriatric wing, 70 were diagnosed with tinea pedis, tinea unguium (onychomycosis) or both of which 54 had onychomycosis alone, nine tinea pedis alone and seven had co-existing onychomycosis and tinea pedis. The most common clinical type of onychomycosis was distal lateral subungual onychomycosis (DLSO) at 30 cases, followed by superficial white onychomycosis (SWO) at 23 cases. Fifteen strains of Trichophyton (T.) interdigitale isolated from 23 SWO patients comprised six molecular types (D2II, nine cases; C2II, two cases; four other types, one case of each), based on the non-transcribed spacer region (NTS) of the ribosomal DNA. The pathogen of three other SWO cases was identified as T. rubrum. Direct physical contact between the subjects was unlikely because they were bedridden most of the time. Nine T. interdigitale strains were isolated from a bathtub used by patients on the floor with a high incidence of SWO alone, and all nine strains were D2II type, which suggests nosocomial infection. Consequently, the hospital infection control policy committee was consulted, bathing arrangements were changed, and nursing staff were educated about onychomycosis.


Assuntos
Infecção Hospitalar/epidemiologia , Dermatoses do Pé/epidemiologia , Casas de Saúde , Onicomicose/epidemiologia , Tinha dos Pés/epidemiologia , Trichophyton/isolamento & purificação , Adulto , Infecção Hospitalar/microbiologia , Infecção Hospitalar/transmissão , Feminino , Pé/microbiologia , Dermatoses do Pé/diagnóstico , Dermatoses do Pé/microbiologia , Genes Fúngicos , Hospitais , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem no Hospital/educação , Onicomicose/diagnóstico , Onicomicose/microbiologia , Onicomicose/transmissão , Prevalência , Tinha dos Pés/diagnóstico , Tinha dos Pés/microbiologia , Toaletes , Trichophyton/genética , Trichophyton/patogenicidade
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