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1.
ACS Appl Mater Interfaces ; 15(37): 43871-43879, 2023 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-37676926

RESUMO

The development of flexible thermoelectric devices requires materials possessing ductility and high thermoelectric performance at room temperature. However, only a few existing materials meet both criteria. In this study, the ductile properties, electronic structure, and transport properties of the low-temperature phase α-AgCuS were elucidated using first-principles calculations combined with Boltzmann transport theory. With a layered zigzag structure similar to the well-known ductile semiconductor Ag2S, AgCuS is determined to have good metal-like ductility. Through consideration of various intrinsic scattering mechanisms, we found that electron-polar optical phonon interactions have the most significant impact on the transport behavior of AgCuS. The predominance of this type of interaction is also disclosed by the covalent-ionic bonding nature of the Ag-S and Cu-S bonds. Therefore, weakening this interaction via doping or alloying could optimize the thermoelectric performance of the system. At room temperature, a maximum dimensionless figure of merit ZT of up to 0.592 could be achieved under a tuning of hole concentration to 2 × 1019 cm-3, suggesting that α-AgCuS could be a promising p-type candidate for flexible thermoelectric applications.

2.
Prog Rehabil Med ; 8: 20230014, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37181645

RESUMO

Background: Task-specific dystonia (TSD) confined to the lower extremities (LE) is relatively rare. This report describes dystonia confined to the LE only during forward walking. This case required careful neurological and diagnostic assessment because the patient was taking several neuropsychiatric drugs that cause symptomatic dystonia, such as aripiprazole (ARP). Case: A 53-year-old man visited our university hospital with a complaint of abnormalities in the LE that appeared only during walking. Neurological examinations other than walking were normal. Brain magnetic resonance imaging revealed meningioma in the right sphenoid ridge. The patient had been treated for depression with neuropsychiatric medications for a long time, and his abnormal gait appeared about 2 years after additional administration of ARP. After the meningioma was removed, his symptoms remained. Surface electromyography showed dystonia in both LE during forward walking, although his abnormal gait appeared to be accompanied by spasticity. The patient was tentatively diagnosed with tardive dystonia (TD). Although dystonia did not disappear clinically, it was alleviated after discontinuing ARP. Administration of trihexyphenidyl hydrochloride and concomitant rehabilitation improved his dystonia until return to work, but some residual gait abnormalities remained. Discussion: We report an unusual case of TD with task specificity confined to the LE. The TD was induced by the administration of ARP in combination with multiple psychotropic medications. Careful consideration was required for clinical diagnosis, rehabilitation, and assessment of its relevance to TSD.

3.
Parkinsons Dis ; 2022: 8448638, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35992727

RESUMO

Background: The effects of subthalamic nuclear deep brain stimulation therapy (STN-DBS) and combined postoperative rehabilitation for patients with Parkinson's disease with postural instability have yet to be well reported. This study investigated the effects of short-term postoperative rehabilitation with STN-DBS on physical function in patients with Parkinson's disease. Methods: Patients diagnosed with Parkinson's disease who were admitted to our hospital for STN-DBS surgery were included in this study. Data were prospectively collected and retrospectively analyzed. Postoperative rehabilitation consisted of muscle-strengthening exercises, stretching, and balance exercises for 40-60 minutes per day for approximately 14 days. The Mini-Balance Evaluation Systems Test (Mini-BESTest), Timed Up and Go test (TUG) seconds and steps, Trunk Impairment Scale (TIS), seconds for 10 times toe-tapping, lower limb extension torque using StrengthErgo240, and center of pressure sway in the quiet standing posture were evaluated preoperatively, postoperatively, and at discharge. Mini-BESTest changes were also evaluated in the two groups classified by the presence or absence of postural instability. One-way and two-way repeated measures analyses of variance were performed for each of the three periods of change, and paired t-tests with the Bonferroni method were performed as multiple comparison tests. A stepwise multiple regression model was used to identify factors associated with balance improvement. Results: A total of 60 patients with Parkinson's disease were included, and there were significant increases in Mini-BESTest, TIS, StrengthErgo240, and postural sway during closed-eye standing compared to pre- and postoperative conditions at discharge (p < 0.05), and they decreased significantly compared to the postoperative period (p < 0.05). On stepwise multiple regression analysis, decreased steps of TUG and improvement of TIS scores were related to improvement of the Mini-BESTest (p < 0.05). In addition, Mini-BESTest scores in both groups with and without postural instability were significantly increased at discharge compared to preoperative and postoperative conditions (p < 0.01). Conclusion: Postoperative rehabilitation combined with STN-DBS may provide short-term improvements in physical function compared with the preoperative medicated status. The improvements in gait step length and trunk function may be important factors for obtaining improvement of postoperative postural stability.

4.
Clin J Gastroenterol ; 15(4): 717-721, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35489002

RESUMO

Mesenteric phlebosclerosis is a rare form of intestinal ischemia characterized by thickening of the right-sided colon and calcification of the mesenteric vein. We describe the case of a 58-year-old woman admitted to our hospital because of abdominal pain and distension. An abdominal computed tomography study revealed remarkable dilatation and fluid collection of the small intestine compatible with intestinal obstruction, which was considered to be the result of stenosis of the ascending colon. The thickened wall of the cecum and ascending colon was associated with calcification of the colonic wall and mesenteric veins. Colonoscopy showed dark purple discoloration of the edematous mucosa from the splenic flexure through the hepatic flexure, at which point the colonoscope could not be advanced further because of stenosis of the ascending colon. Over 10 years previously, the patient had taken an herbal medicine containing gardenia fruit, which can cause mesenteric phlebosclerosis. An extensive colonic resection was performed after intestinal decompression. This case highlights extensive mesenteric phlebosclerosis causing intestinal obstruction from the cecum through the proximal portion of the sigmoid colon, which was treated with extensive colonic resection.


Assuntos
Calcinose , Obstrução Intestinal , Calcinose/complicações , Colo/irrigação sanguínea , Colonoscopia , Constrição Patológica , Feminino , Humanos , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Veias Mesentéricas/diagnóstico por imagem , Pessoa de Meia-Idade
5.
Auris Nasus Larynx ; 49(4): 717-720, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33455818

RESUMO

We present a new oral intake route in a hypopharyngeal cancer patient with severe complications. A 64-year-old man was diagnosed as having T2N0M0 squamous cell carcinoma of the posterior wall of the hypopharynx. He had previously undergone radiotherapy for laryngeal cancer and tricuspid valve replacement surgery, and also had atrial flutter and renal dysfunction. We performed surgery with curative intent. The hypopharynx was primarily closed after tumor resection. Laryngotracheal separation and tracheoesophageal diversion with end-to-end anastomosis of the trachea to the esophagus was performed. After surgery, complete oral feeding was achieved using the new pathway created. The larynx, contradictory to its typical role, can be used as a pathway to the esophagus using our revolutionary technique.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Hipofaríngeas , Neoplasias Laríngeas , Laringe , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Humanos , Neoplasias Hipofaríngeas/patologia , Hipofaringe/patologia , Hipofaringe/cirurgia , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/cirurgia , Laringe/cirurgia , Masculino , Pessoa de Meia-Idade
6.
Rinsho Shinkeigaku ; 55(11): 810-5, 2015.
Artigo em Japonês | MEDLINE | ID: mdl-26458569

RESUMO

A 52-year-old woman was admitted to our hospital with muscle pain and an elevated creatine kinase level. She had experienced wrist pain at onset seven years ago. The initial possible diagnoses were rheumatoid arthritis and adult-onset Still disease. The patient received corticosteroid and immunosuppressant therapy but experienced deterioration of symptoms. The symptoms of muscle pain and mild creatine kinase elevation emerged four years prior to her visit. Further elevation of creatine kinase was observed for three months before her visit despite adjusting the immunosuppressant dose. On admission, she presented with muscle moderate weakness of the trunk and extremities and pain of the shoulder and medial thigh muscles. Elevation of muscle enzymes and inflammatory response were also detected, and the anti-PL7 antibody was positive. Muscle biopsy from biceps brachii revealed necrotizing myopathy with necrotic and regenerated muscle fibers. The final diagnosis was anti-PL7 antibody positive myositis. The patient was treated with a higher dose of prednisolone and an adequate dose of tacrolimus. Following this treatment, the symptoms were improved. Anti-ARS (aminoacyl t-RNA synthetase) antibodies such as anti-PL7 antibody are useful in diagnosis and for prognostic prediction. Further investigation of patients with anti-ARS antibodies positive myositis is required.


Assuntos
Aminoacil-tRNA Sintetases/imunologia , Autoanticorpos/análise , Miosite/imunologia , Feminino , Humanos , Pessoa de Meia-Idade , Miosite/tratamento farmacológico , Síndrome , Tacrolimo/uso terapêutico
7.
BMC Res Notes ; 7: 840, 2014 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-25424467

RESUMO

BACKGROUND: Oxidative stress is one of the mechanisms underlying pathogenesis in neurodegenerative diseases such as Alzheimer's disease. Generally, oxidative stress represents cell toxicity; however, we recently found that oxidative stress promotes the expression of growth factor progranulin (PGRN) in HT22 murine hippocampus cells, thereby protecting the HT22 cells. In this study, we attempted to clarify whether a similar system exists in the other neuronal cell model, rat pheochromocytoma (PC12) cells. RESULTS: After confirming that high concentrations of hydrogen peroxide (H2O2; 100-250 µM) initiate PC12 cell death, we analyzed growth factor expressional changes after H2O2 treatment. We found, intriguingly, that gene expression of brain-derived neurotrophic factor (BDNF), but not PGRN was significantly induced by H2O2. Although little expression of the high affinity BDNF receptor tropomyosin-related kinase TrkB was observed in PC12 cells, expression of low affinity neurotrophin receptor, p75NTR, was clearly observed. This BDNF signaling appeared to contribute to PC12 cell protection, since PC12 cell death was significantly attenuated by BDNF treatment. CONCLUSIONS: Based on our results, we conclude that the induction of BDNF by subtoxic levels of H2O2 and its signaling may have roles in PC12 cell protection.


Assuntos
Fator Neurotrófico Derivado do Encéfalo/genética , Regulação da Expressão Gênica , Peróxido de Hidrogênio/farmacologia , Animais , Fator Neurotrófico Derivado do Encéfalo/agonistas , Fator Neurotrófico Derivado do Encéfalo/metabolismo , Fator Neurotrófico Derivado do Encéfalo/farmacologia , Morte Celular/efeitos dos fármacos , Relação Dose-Resposta a Droga , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Proteínas do Tecido Nervoso , Estresse Oxidativo , Células PC12 , Progranulinas , Ratos , Receptor trkB/genética , Receptor trkB/metabolismo , Receptores de Fatores de Crescimento , Receptores de Fator de Crescimento Neural/genética , Receptores de Fator de Crescimento Neural/metabolismo , Transdução de Sinais
8.
J Neurol ; 261(12): 2314-8, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25223960

RESUMO

Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We report three PML cases in which there was a mismatch between (11)C-methionine-positron emission tomography (MET-PET) uptake and (18)F-fluorodeoxyglucose-positron emission tomography (FDG-PET) uptake. All three cases demonstrated the hyper-uptake of MET around the white matter lesions and hypo-uptake of FDG inside the lesions. We speculate that the infection had ended inside the white matter lesions of these patients, while JC virus infection was ongoing around the lesions, resulting in the increase of methionine metabolism, and the glucose metabolism was reduced or intermediate because inflammatory cells infiltrate PML lesions rarely. Two patients who were diagnosed and treated with mefloquine while the JC virus was at a low level in the cerebrospinal fluid are still alive. We suggest the usefulness of MET-PET for the early diagnosis of PML and early treatment with mefloquine.


Assuntos
Encéfalo/metabolismo , Diagnóstico Precoce , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Leucoencefalopatia Multifocal Progressiva/metabolismo , Metionina , Tomografia por Emissão de Pósitrons , Idoso , Idoso de 80 Anos ou mais , Antimaláricos/uso terapêutico , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Progressão da Doença , Feminino , Fluordesoxiglucose F18 , Humanos , Vírus JC/patogenicidade , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Leucoencefalopatia Multifocal Progressiva/patologia , Leucoencefalopatia Multifocal Progressiva/virologia , Masculino , Mefloquina/uso terapêutico , Pessoa de Meia-Idade , Prognóstico , Resultado do Tratamento
9.
Neurosci Lett ; 557 Pt B: 148-53, 2013 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-24183892

RESUMO

Nutrient availability is one of the most important signals regulating cellular fates including cell growth, differentiation, and death. Recent evidence suggests that the NAD(+)-dependent histone deacetylase sirtuin 1 (SIRT1) plays a prominent role in linking changes in nutritional availability with cellular fate regulation. SIRT1 expression is observed in neurons, yet the expressional and functional regulation of this protein is not fully understood. In the present study, we examined whether extracellular glucose concentration affects the expression and localization of SIRT1 in PC12 cells. Further, we examined levels of forkhead box O3a (FoxO3a), which is also controlled by changes in extracellular glucose concentration. We observed the total expression levels of SIRT1 and FoxO3a in PC12 cells were reduced when glucose availability increased via gene expressional control, at least in part. Nuclear localization of SIRT1 and FoxO3a was increased by glucose deprivation. Even though the changes in extracellular glucose concentration regulated SIRT1 and FoxO3a in a similar direction, the effects of nerve growth factor on these two proteins were completely different. Finally, we found the potent SIRT1 inhibitor enhanced glucose deprivation-induced cell death. Therefore, we propose that glucose deprivation-induced SIRT1 expression potentially plays a major role in protecting PC12 cells.


Assuntos
Glucose/deficiência , Neurônios/metabolismo , Sirtuína 1/metabolismo , Animais , Western Blotting , Imunofluorescência , Proteína Forkhead Box O3 , Fatores de Transcrição Forkhead , Células PC12 , Ratos , Reação em Cadeia da Polimerase em Tempo Real
10.
Nihon Ronen Igakkai Zasshi ; 50(1): 96-103, 2013.
Artigo em Japonês | MEDLINE | ID: mdl-23925103

RESUMO

OBJECTIVE: Percutaneous endoscopic gastrostomy (PEG) serves as a major artificial hydration/feeding method in the terminal care of elderly patients. We surveyed the state of patients who underwent PEG at our hospital and investigated the clinical characteristics of patients in the long-term survival group, and the short-term survival group. METHODS: The subjects were 125 patients who underwent PEG at our hospital between January 2007 and June 2011. Two kinds of examination were performed. In the first examination, subjects were divided into a short-term group of 37 patients who survived <181 days and a long-term group of 88 patients who survived ≥181 days. In the second examination, subjects were divided into 2 purpose-oriented groups: a prolongation of life group of 76 patients and a being able to eat group of 49 patients. We analyzed the clinical records of these patients and conducted a telephone-based survey. RESULTS: In the short-term group, there were many cases of PEG after hospitalization due to medical diseases such as pneumonia. In the long-term group, many subjects were young, female, suffered from recurrence of cranial nerve disease, or slowly developed dysphagia. The involvement of rehabilitation doctors, the rate of undergoing rehabilitation for dysphagia, and cases who were able to achieve oral ingestion were significantly high. Of 49 patients who underwent PEG with the aim of being able to eat, 24 achieved oral ingestion. CONCLUSION: Our findings suggest that involving rehabilitation doctors and undergoing rehabilitation for swallowing effectively promote long-term survival after PEG.


Assuntos
Endoscopia Gastrointestinal/mortalidade , Gastroscopia , Idoso , Idoso de 80 Anos ou mais , Feminino , Gastrostomia , Humanos , Masculino , Prognóstico
11.
Neuroradiology ; 55(6): 689-95, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23440433

RESUMO

INTRODUCTION: Cigarette smoking decreases brain regional gray matter volume and is related to chronic obstructive lung disease (COPD). COPD leads to decreased pulmonary function, which is represented by forced expiratory volume in one second percentage (FEV1.0 %); however, it is unclear if decreased pulmonary function is directly related to brain gray matter volume decline. Because there is a link between COPD and cognitive decline, revealing a direct relationship between pulmonary function and brain structure is important to better understand how pulmonary function affects brain structure and cognitive function. Therefore, the purpose of this study was to analyze whether there were significant correlations between FEV1.0 % and brain regional gray and white matter volumes using brain magnetic resonance (MR) image data from 109 community-dwelling healthy elderly individuals. METHODS: Brain MR images were processed with voxel-based morphometry using a custom template by applying diffeomorphic anatomical registration using the exponentiated lie algebra procedure. RESULTS: We found a significant positive correlation between the regional white matter volume of the cerebellum and FEV1.0 % after adjusting for age, sex, and intracranial volume. CONCLUSION: Our results suggest that elderly individuals who have a lower FEV1.0 % have decreased regional white matter volume in the cerebellum. Therefore, preventing decreased pulmonary function is important for cerebellar white matter volume in the healthy elderly population.


Assuntos
Cerebelo/anatomia & histologia , Fluxo Expiratório Máximo/fisiologia , Fibras Nervosas Mielinizadas/ultraestrutura , Neurônios/citologia , Idoso , Idoso de 80 Anos ou mais , Cerebelo/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Japão/epidemiologia , Masculino , Tamanho do Órgão/fisiologia , Estatística como Assunto
12.
Rinsho Shinkeigaku ; 52(5): 336-43, 2012.
Artigo em Japonês | MEDLINE | ID: mdl-22688113

RESUMO

A 45-year-old man was admitted to our hospital with flaccid paraplegia. Neurological examination at a local hospital, 2 months before admission to our hospital, showed sensory impairment of the right posterior surface of the thigh and a decreased Achilles tendon reflex. Spinal magnetic resonance imaging (MRI) showed a T2 weighted high-intensity area at the Th10-11 level that was more pronounced in the gray matter. The patient developed flaccid paraparesis and urinary retention. No improvement was observed after 2 rounds of methylprednisolone (mPSL) pulse therapy. Spinal cord biopsy showed demyelinated axons and myelinophagia without any tumorous lesion. Myelopathy exacerbated, and hence, plasma exchange was performed. However, this was ineffective. We suspected that myelopathy was caused by intravascular lymphoma (IVL) because of the presence of a low-grade fever, weight loss, and elevated serum soluble IL-2 receptor titers. Random biopsies, including skin, rectal, bone marrow, muscle, and renal biopsies, and splenectomy were performed to make a definite diagnosis of IVL myelopathy. Among these biopsies, the diagnosis of IVL myelopathy was confirmed from the renal specimen. The patient underwent chemotherapy at our hospital, and the IVL remitted. The results of this study confirm that sufficient systemic investigation by using tissue biopsy specimens should be performed in order to confirm the diagnosis of IVL myelopathy.


Assuntos
Biópsia , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/patologia , Doenças da Medula Espinal/etiologia , Neoplasias Vasculares/diagnóstico , Neoplasias Vasculares/patologia , Diagnóstico Diferencial , Humanos , Rim/irrigação sanguínea , Rim/patologia , Linfoma Difuso de Grandes Células B/complicações , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Medula Espinal/patologia , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/patologia , Neoplasias Vasculares/complicações
13.
J Neurol ; 259(9): 1913-22, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22349865

RESUMO

Previous studies have identified several genetic loci associated with the development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the Desmin, GNE, MYHC2A, VCP, and ZASP genes. All coding exons of the five genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in three cases, and possible IBM in four cases. No cases showed missense mutations in the Desmin, GNE, or VCP genes. Three patients carried the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene; immunohistochemical staining for MYHC isoforms in these three cases showed atrophy or loss of muscle fibers expressing MYHC IIa or IIx. One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene; immunohistochemical studies of Z-band-associated proteins revealed Z-band abnormalities. Both of the novel heterogeneous mutations were located in highly evolutionarily conserved domains of their respective genes. Cumulatively, these findings have expanded our understanding of the molecular background of sIBM. However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort.


Assuntos
Análise Mutacional de DNA , Complexos Multienzimáticos/genética , Mutação/genética , Miosite de Corpos de Inclusão/genética , Miosite de Corpos de Inclusão/patologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adenosina Trifosfatases/genética , Adenosina Trifosfatases/metabolismo , Adulto , Idoso , Povo Asiático/genética , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Intervalos de Confiança , Desmina/genética , Desmina/metabolismo , Feminino , Humanos , Proteínas com Domínio LIM/genética , Proteínas com Domínio LIM/metabolismo , Masculino , Pessoa de Meia-Idade , Complexos Multienzimáticos/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismo , Miosite de Corpos de Inclusão/metabolismo , Estudos Retrospectivos , Proteína com Valosina
14.
Hepatogastroenterology ; 58(107-108): 749-51, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21830383

RESUMO

BACKGROUND/AIMS: Low anastomosis with covering stoma is the standard operation for low rectal carcinoma. Some patients experience severe anorectal disorder, which makes us consider whether stoma closure should be performed or not. There was no comparative study between life with a stoma and life with evacuatory disorder. METHODOLOGY: Covering stoma was closed at 4 to 6 months after ultra-low anterior resection. Forty-five patients were evaluated by questionnaire in terms of their bowel evacuation and anorectal manometry before ultra-low anterior resection and 6 months after stoma closure. They were also questioned about their subjective preference regarding the life before and after stoma closure. RESULTS: After stoma closure, frequency of daily bowel movement was significantly increased up to 5 times (range 2-15). Incontinence score was also significantly worsened from 0 to 8, postoperatively. All patients complained of any influence in their social life. Ninety-three percent (42/45) of the cases were dissatisfied with evacuation, postoperatively. Eighty-nine percent (40/45) of the cases had postoperative evacuatory disorder defined by the present study. Under these backgrounds, all patients replied that evacuation from the anus was superior to life with a stoma even during postoperative evacuatory disorder status. CONCLUSION: Even when patients had evacuatory disorder, they preferred life without a stoma according to their subjective opinion.


Assuntos
Incontinência Fecal/etiologia , Complicações Pós-Operatórias/etiologia , Neoplasias Retais/cirurgia , Estomas Cirúrgicos , Idoso , Comportamento de Escolha , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
15.
J Neurol ; 258(7): 1327-32, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21301859

RESUMO

Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype-phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions, c.830A>T (p.H277L) and c.2827C>T (p.R943C) in one of the families. These two mutations in the coding region of POLG alter conserved amino acids in the exonuclease and polymerase domains, respectively, of the POLG protein. Neither of these substitutions was found in the 100 chromosomes of ethnically matched control subjects. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes.


Assuntos
Saúde da Família , Oftalmoplegia Externa Progressiva Crônica/complicações , Oftalmoplegia Externa Progressiva Crônica/genética , Transtornos Parkinsonianos/complicações , Transtornos Parkinsonianos/genética , Idoso , Idoso de 80 Anos ou mais , Deleção Cromossômica , Análise Mutacional de DNA/métodos , DNA Polimerase gama , DNA Mitocondrial/genética , DNA Polimerase Dirigida por DNA/genética , Feminino , Estudos de Associação Genética , Terapia Genética , Humanos , Japão , Masculino , Músculo Esquelético/patologia , Oftalmoplegia Externa Progressiva Crônica/patologia , Transtornos Parkinsonianos/patologia
16.
Nihon Ronen Igakkai Zasshi ; 47(5): 440-4, 2010.
Artigo em Japonês | MEDLINE | ID: mdl-21116088

RESUMO

BACKGROUND: Senior citizens who have multiple diseases often receive multiple medications (polypharmacy). Because of the increased risk of adverse drug reactions with polypharmacy, trying to minimize the number of medications is important to medical care. Some rehabilitation physicians often treat multiple diseases alone, and hospitalization for rehabilitation provides a good opportunity to improve prescription practices. Our rehabilitation department has implemented a program to minimize the quantity of medications prescribed to hospitalized patients. AIM: To examine reductions in medication consumption through suitable prescribing patterns during rehabilitation. METHODS: We investigated prescription practices and the reduction of medications from the clinical records of 203 patients who were admitted to our rehabilitation department from January to December, 2009. RESULTS: Of the 203 patients, 131 (64.5%) were 75 years old or more, and 77 (37.9%) patients were less than 45 kg in weight. Patients took an average of 6.49 medications on admission and 6.02 on discharge. Ninety-two (45.3%) patients experienced a reduction in medication within one month. After a month, 77 (37.9%) patients experienced an increase in medication and only seven (3.4%) a decrease. No patient whose medications were reduced experienced adverse drug withdrawal reactions. The 14 patients whose antihypertensive medication was reduced experienced an excellent course. Similarly, those whose narcoleptic medications were reduced also did well. CONCLUSIONS: Medications should be optimized, and reduced if possible, in the early stages of hospitalization. In the absence of adverse events, it appears possible to decrease the quantity of analgesic and gastrointestinal drugs by one-third.


Assuntos
Polimedicação , Idoso , Feminino , Humanos , Assistência de Longa Duração , Masculino , Prescrições , Reabilitação
17.
Arch Neurol ; 67(10): 1257-62, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20937954

RESUMO

OBJECTIVES: To map the disease locus and to identify a gene mutation in a Japanese family with autosomal dominant cerebellar ataxia. DESIGN: A genome-wide linkage analysis was performed using the Affymetrix genome-wide human single-nucleotide polymorphism array containing 909 622 single-nucleotide polymorphisms. Direct nucleotide sequencing of a candidate gene was performed. SETTING: Hokkaido University Graduate School of Medicine and Tokyo University Graduate School of Medicine. Patients  Four affected and 6 healthy individuals in a family with autosomal dominant cerebellar ataxia. RESULTS: One locus on chromosome 5q had a multipoint logarithm of odds score of 2.408, the theoretical maximum. This locus was flanked by markers rs681591 and rs32582 and includes PPP2R2B (protein phosphatase 2, regulatory subunit B, beta isoform), the causative gene of autosomal dominant spinocerebellar ataxia 12 (SCA12). However, unlike SCA12, no CAG repeat expansions in the promoter region and no nucleotide substitution or insertion-deletion mutations in the exons of the PPP2R2B gene were found. CONCLUSION: Autosomal dominant cerebellar ataxia mapping to 5q31-q33.1 has no CAG repeat expansion or other mutations of the PPP2R2B gene.


Assuntos
Ataxia Cerebelar/genética , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único/genética , Proteína Fosfatase 2/genética , Adolescente , Adulto , Mapeamento Cromossômico , Cromossomos Humanos Par 5/genética , Saúde da Família , Feminino , Ligação Genética/fisiologia , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Japão , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto Jovem
18.
Dig Surg ; 27(4): 320-3, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20689294

RESUMO

BACKGROUND AND AIM: Manual dilatation of the anal sphincter and transanal introduction of the circular stapling device are required for intraluminal stapling anastomosis. This procedure has been regarded as one of the causes of postoperative evacuatory disorder in low anterior resection. However, there has been no evidence of this matter. Therefore, we conducted this study to clarify the impact of the procedure of stapling anastomosis on postoperative anal function. METHODS: Twenty-five cases with sigmoid colon cancer underwent potentially curative sigmoid colectomy with stapling anastomosis (ST group) and 20 cases with hand-sewn anastomosis (non-ST group). The patients were questioned regarding the daily frequency of bowel movement, the presence of urgency and soiling, and Wexner's incontinence score. Anorectal manomatry and pudendal nerve terminal motor latency were also evaluated. The patients' questionnaire and physiologic examinations were prospectively obtained before, and 1 and 6 months after the operation. RESULTS: Postoperative bowel habit was graded as satisfied in 92% (23/25 patients) in the ST group and 90% (18/20 patients) in the non-ST group. There was no significant difference between the 2 groups in terms of presence of fecal incontinence, discrimination of gas and stool, and daily frequency of bowel movement. In anal manometry, there was no significant difference between the 2 groups regarding the resting and squeezing anal canal sphincter pressures at 1 and 6 months postoperatively. Pudendal nerve terminal motor latency showed their latency from 2.0 to 2.5 ms throughout the periods, and there was no difference between the 2 groups before, and 1 and 6 months after the operation. CONCLUSION: Stapling anastomosis does not affect anal function in the early postoperative period.


Assuntos
Canal Anal/inervação , Anastomose Cirúrgica/métodos , Incontinência Fecal/etiologia , Neoplasias do Colo Sigmoide/cirurgia , Grampeamento Cirúrgico/métodos , Idoso , Canal Anal/fisiopatologia , Anastomose Cirúrgica/efeitos adversos , Estudos de Coortes , Colectomia/efeitos adversos , Colectomia/métodos , Incontinência Fecal/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Neurofisiologia , Complicações Pós-Operatórias/fisiopatologia , Estudos Retrospectivos , Medição de Risco , Neoplasias do Colo Sigmoide/patologia , Estatísticas não Paramétricas , Grampeamento Cirúrgico/efeitos adversos , Técnicas de Sutura , Fatores de Tempo , Resultado do Tratamento
19.
Hepatogastroenterology ; 57(97): 70-2, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20422874

RESUMO

BACKGROUND/AIMS: Coloplasty has been reported as substitution to colonic J-pouch when it is difficult to fashion. However, previous studies showed conflicting results with reference to functional outcome. METHODOLOGY: Forty-seven patients with low rectal cancer were involved in this study from July 2000 to December 2006. Coloplasty was performed when colonic J-pouch was hard to construct due to technical difficulty such as short masenterium and narrow pelvis. Clinical and functional evaluations were performed before the operation and 12 months after stoma closure. RESULTS: Colonic J-pouch was abandoned in 12 of 37 cases (26%) due to short colon and mesenterium in 8 cases and narrow pelvis in 4 cases. Frequency of daily bowel movement was significantly increased in both groups but no difference between the groups. Anal sphincter tones were maintained even after the operation. Moreover, no difference was noted between the groups. Anal canal length and sensory factor were also maintained. Volumetric factors such as maximum tolerable volume and neo-rectal capacity showed significant changing before and after the operation. However, there was no significant difference between the groups. CONCLUSIONS: Coloplasty could be a possible substitution to colonic J-pouch in patients with low rectal cancer from functional point of view.


Assuntos
Colo/cirurgia , Bolsas Cólicas , Proctocolectomia Restauradora , Neoplasias Retais/cirurgia , Idoso , Canal Anal/fisiopatologia , Colo/patologia , Colo/fisiopatologia , Defecação , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recuperação de Função Fisiológica , Neoplasias Retais/patologia , Neoplasias Retais/fisiopatologia , Resultado do Tratamento
20.
Gan To Kagaku Ryoho ; 36(2): 283-5, 2009 Feb.
Artigo em Japonês | MEDLINE | ID: mdl-19223746

RESUMO

A 67-year-old man was diagnosed with primary gastric malignant lymphoma by an endoscopic examination. Endoscopy revealed irregular ulcerative regions from body to antrum of the stomach. With a diagnosis of diffuse large B-cell lymphoma based on the biopsy finding, the patient was treated with R-CHOP chemotherapy. After three cycles of chemotherapy, a tight stenosis was located at the antrum of the stomach. Total gastrectomy was performed due to an obstruction. Pathological diagnosis was complete response. It was thought that the tumor organization rapidly disappeared due to the effectiveness of the chemotherapy, and that the origin of the stricture caused fibrosis.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Gastrectomia , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/patologia , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/patologia , Idoso , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais Murinos , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Biópsia , Constrição Patológica , Ciclofosfamida/administração & dosagem , Ciclofosfamida/uso terapêutico , Doxorrubicina/administração & dosagem , Doxorrubicina/uso terapêutico , Humanos , Imunoterapia , Linfoma de Células B/imunologia , Linfoma de Células B/cirurgia , Masculino , Prednisona/administração & dosagem , Prednisona/uso terapêutico , Rituximab , Neoplasias Gástricas/imunologia , Neoplasias Gástricas/cirurgia , Tomografia Computadorizada por Raios X , Vincristina/administração & dosagem , Vincristina/uso terapêutico
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