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1.
F1000Res ; 13: 287, 2024.
Article in English | MEDLINE | ID: mdl-38948348

ABSTRACT

Background: Kimono is being reevaluated for its sustainability aspects, such as having fewer offcuts in the production process due to its structural differences from Western-style clothes and its high reusability due to the adaptability to individuals' body shapes. On the other hand, once a common attire for daily wear in Japan, kimono has transitioned to being worn only on special events and the kimono-related industry has also shrunk. To stimulate demand for kimono, it is essential to familiarize younger generations with its potential as daily wear. Methods: A questionnaire survey on perceptions of kimono was conducted among two groups in Japan: 211 college students and 50 kimono enthusiasts. The questionnaire included demographic questions and psychometric scales, primarily focusing on their kimono experiences, challenges associated with wearing kimono, their perceptions of kimono and Western-style clothes, and their attitudes towards kimono. Results: The results revealed that a majority of students had worn kimono before, though they found it difficult to move while wearing it. In contrast, kimono enthusiasts evaluated it as easier to move, hard to become disheveled, and casual. They also rated the ease of wearing Western-style clothes lower compared to students, and this tendency intensified with the length of enthusiast experience. Furthermore, the findings indicated that enthusiasts regarded the kimono more as daily wear compared to students, while still deriving enjoyment from it as formal attire in special events. Conclusions: These results suggest that the cognition that Western-style clothes are easy to move and kimono is not may change with experiences. Therefore, providing opportunities for people in Japan to acquire how to wear kimono in comfortable ways possibly impacts their perceptions of kimono.


Subject(s)
Students , Humans , Students/psychology , Female , Male , Young Adult , Surveys and Questionnaires , Universities , Japan , Perception , Clothing/psychology , Adult , Adolescent
2.
J Clin Pathol ; 67(2): 176-8, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23986553

ABSTRACT

Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. They are caused by clonal expansion of haematopoietic stem cells and share, as a diagnostic criterion, the identification of JAK2V617F mutation. Classically, when other clinical criteria are present, a JAK2V617F negative case requires the analysis of Exon12_JAK2 for the diagnosis of PV, and of MPL515K/L mutations for the diagnosis of ET and MF. Here, we evaluated 78 samples from Brazilian patients suspected to have MPN, without stratification for PV, ET or MF. We found that 28 (35.9%) are JAK2V617F carriers; from the 50 remaining samples, one (2%) showed an Exon12_JAK2 mutation, and another (2%) was positive for MPLW515L mutation. In summary, the investigation of JAK2V617F, Exon12_JAK2 and MPLW515K/L was relevant for the diagnosis of 38.4% of patients suspected to have BCR-ABL1-negative MPN, suggesting that molecular genetic tests are useful for a quick and unequivocal diagnosis of MPN.


Subject(s)
Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/diagnosis , Myeloproliferative Disorders/genetics , Receptors, Thrombopoietin/genetics , Base Sequence , DNA Mutational Analysis , Exons/genetics , Fusion Proteins, bcr-abl/genetics , Humans , Real-Time Polymerase Chain Reaction
3.
J Clin Pathol ; 64(1): 75-82, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21045235

ABSTRACT

BACKGROUND: Chronic myeloproliferative disorders (MPDs) are clonal haematopoietic stem cell malignancies characterised by an accumulation of mature myeloid cells in bone marrow and peripheral blood. Deregulation of the apoptotic machinery may be associated with MPD physiopathology. AIMS: To evaluate expression of death receptors' family members, mononuclear cell apoptosis resistance, and JAK2 allele burden. SUBJECTS AND METHODS: Bone marrow haematopoietic progenitor CD34 cells were separated using the Ficoll-hypaque protocol followed by the Miltenyi CD34 isolation kit, and peripheral blood leukocytes were separated by the Haes-Steril method. Total RNA was extracted by the Trizol method, the High Capacity Kit was used to synthesise cDNA, and real-time PCR was performed using SybrGreen in ABIPrism 7500 equipment. The results of gene expression quantification are given as 2(-ΔΔCt). The JAK2 V617F mutation was detected by real-time allelic discrimination PCR assay. Peripheral blood mononuclear cells (PBMCs) were isolated by the Ficoll-hypaque protocol and cultured in the presence of apoptosis inducers. RESULTS: In CD34 cells, there was mRNA overexpression for fas, faim and c-flip in polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF), as well as fasl in PMF, and dr4 levels were increased in ET. In leukocytes, fas, c-flip and trail levels were increased in PV, and dr5 expression was decreased in ET. There was an association between dr5 and fasl expression and JAK2V617F mutation. PBMCs from patients with PV, ET or PMF showed resistance to apoptosis inducers. CONCLUSIONS: The results indicate deregulation of apoptosis gene expression, which may be associated with MPD pathogenesis leading to accumulation of myeloid cells in MPDs.


Subject(s)
Apoptosis/genetics , Myeloproliferative Disorders/metabolism , Receptors, Death Domain/biosynthesis , Adolescent , Adult , Aged , Aged, 80 and over , Antigens, CD34/analysis , Apoptosis/physiology , Cells, Cultured , Female , Gene Expression Regulation , Humans , Janus Kinase 2/genetics , Leukocytes/metabolism , Male , Middle Aged , Mutation , Myeloproliferative Disorders/genetics , Polymerase Chain Reaction/methods , RNA, Messenger/genetics , Receptors, Death Domain/genetics , Young Adult
4.
J Infect ; 60(6): 467-73, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20307572

ABSTRACT

OBJECTIVES: A rapid-growing mycobacteria biological prosthetic valve (BPV) endocarditis related to prosthetic manufacturing process is described in Brazil. METHODS: From 1999 to 2008, thirty-nine patients underwent BPV replacement due to culture-negative suspected endocarditis. All these cases had histological sections stained by Ziehl-Neelsen method. Clinical and microbiological data were reviewed in all acid-fast bacilli (AFB) positive cases. The 16S-23S internal transcribed sequence (ITS) was amplified using DNA extracted from paraffin-embedded samples, digested with restrictions enzymes and/or sequenced. RESULTS: Eighteen AFB positive BPV (18/39)(46%) were implanted in 13 patients and were from the same manufacturer. Four of them were implanted in other hospitals. Thirteen BPV were histologically proven endocarditis and five showed a colonization pattern. The examination of six non-implanted "sterile" BPV from this manufacturer resulted in 5 AFB positive. Mycobacterium chelonae was the AFB identified by ITS restriction analysis and sequencing. CONCLUSIONS: Rapid-growing mycobacteria infections must be suspected and Ziehl-Neelsen stain always performed on histology of either early or late BPV endocarditis, particularly when blood cultures are negative.


Subject(s)
Bioprosthesis/microbiology , Endocarditis, Bacterial/microbiology , Heart Valve Prosthesis/microbiology , Mycobacterium Infections, Nontuberculous/microbiology , Mycobacterium chelonae/isolation & purification , Prosthesis-Related Infections/microbiology , Adult , Animals , Equipment Contamination , Female , Histocytochemistry , Humans , Male , Middle Aged , Swine
5.
J Clin Microbiol ; 44(9): 3201-7, 2006 Sep.
Article in English | MEDLINE | ID: mdl-16954248

ABSTRACT

From 8 October to 12 November 2003, 36 patients underwent surgical correction of myopia in a São Paulo, Brazil, clinic. Five patients had clinical signs of infectious keratitis, and a Mycobacterium species with previously unreported patterns determined by PCR restriction enzyme analysis of the hsp65 gene and PCR restriction enzyme analysis of the 16S-23S rRNA internal transcribed spacer (ITS) was isolated from corneal scrapings from four of these patients. Subsequent evaluation by phenotypic tests and partial sequencing of the hsp65, sodA, rpoB, and 16S rRNA genes and the ITS supported the species identification as a variant of Mycobacterium immunogenum. The source of infection was not determined. The outbreak was caused by a single clone, as evidenced by identical pulsed-field gel electrophoresis and enterobacterial repetitive intergenic consensus-PCR profiles. This is the first report of an outbreak where this species was isolated from infected tissues.


Subject(s)
Disease Outbreaks , Keratitis/epidemiology , Mycobacterium Infections, Nontuberculous/epidemiology , Nontuberculous Mycobacteria/isolation & purification , Adult , Bacterial Proteins/genetics , Base Sequence , Chaperonin 60 , Chaperonins/genetics , Cornea/microbiology , DNA, Ribosomal Spacer/analysis , Electrophoresis, Gel, Pulsed-Field , Female , Humans , Keratitis/microbiology , Male , Molecular Sequence Data , Mycobacterium Infections, Nontuberculous/microbiology , Nontuberculous Mycobacteria/classification , Nontuberculous Mycobacteria/genetics , Polymerase Chain Reaction/methods , RNA, Ribosomal, 16S/genetics , RNA, Ribosomal, 23S/genetics , Restriction Mapping , Sequence Analysis, DNA
7.
J Clin Endocrinol Metab ; 89(12): 5936-41, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15579740

ABSTRACT

Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are consequent to inactivating mutations of the calcium-sensing receptor (CaR) gene. FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene. FHH is generally asymptomatic and is characterized by mild to moderate lifelong hypercalcemia, relative hypocalciuria, and normal intact PTH, whereas individuals with NSHPT frequently show life-threatening hypercalcemia. In this study, we report a novel inactivating mutation of the CaR gene, identified in a 9-yr-old Brazilian girl who was found to be severely hypercalcemic during investigation of a 6-month history of headaches and vomits. Direct sequencing of the CaR gene from this patient showed a novel homozygous mutation (L13P) in exon 2. Functional characterization by intracellular calcium measurement by fluorometry showed that the mutant receptor had a dose-response curve shifted to the right relative to that of wild type. The proband's consanguineous parents, who had mild asymptomatic hypercalcemia, showed the same mutation in the heterozygous form. The mutation described in this study is the inactivating missense mutation present at the most N-terminal end among the known CaR missense mutations. This study reinforces the fact that patients with homozygous inactivation of the CaR gene may present with severe hypercalcemia in different phases of life.


Subject(s)
Hypercalcemia/genetics , Mutation, Missense , Receptors, Calcium-Sensing/genetics , Base Sequence , Brazil , Cell Line , Child , Consanguinity , DNA/genetics , DNA Restriction Enzymes , Exons , Female , Heterozygote , Homozygote , Humans , Hypercalcemia/blood , Immunoblotting , Leucine , Proline , Receptors, Calcium-Sensing/metabolism , Severity of Illness Index , Transfection
8.
São Paulo; s.n; 2004. [76] p.
Thesis in Portuguese | LILACS | ID: lil-419390

ABSTRACT

O receptor sensível ao cálcio extracelular (CaR) é um receptor acoplado à proteína G que exerce um papel essencial na manutenção da homeostase do cálcio extracelular. Este receptor encontra-se expresso em todos os tecidos diretamente relacionados com o controle desta homeostase (glândulas paratiróides, células parafoliculares tiroidianas, rins, intestino e ossos). Além disso, foi comprovada a associação causal entre mutações inativadoras deste receptor e as doenças hipercalcemia hipocalciúrica familiar benigna (FHH) e hiperparatiroidismo nenonatal severo (NSHPT). O fenótipo oposto caracteriza a chamada hipocalcemia autossômica dominante (ADH), decorrente de mutações ativadoras do CaR. Apresentamos um artigo de revisão que versa sobre as mutações do gene do CaR e suas doenças associadas. A seguir, apresentamos os estudos referentes à identificação e caracterização funcional de duas novas mutações inativadoras no gene do CaR. A mutação L13P (exon 2) foi identificada em homozigose em paciente de nove anos de idade portadora de hipercalcemia grave. Seus pais consangüíneos e levemente hipercalcémicos apresentam a mesma mutação em heterozigose. Achados semelhantes foram observados em paciente hipercalcémica portadora da mutação A804D (exon 7, terceira alça intracelular). Ambas mutações inativam o CaR e prejudicam a expressão em superfície celular, sendo que a mutação L13P leva a um grau de comprometimento funcional mais intenso. O fato de ambas mutações terem sido identificadas em fase mais tardia da vida destas pacientes também é destacado e discutido nos dois artigos científicos apresentados


Subject(s)
Calcium , Calcium Channel Agonists , Calcium Metabolism Disorders , Hypercalcemia , Hypocalcemia , Hypoparathyroidism , Homeostasis/physiology , Mutation
10.
Arq. bras. endocrinol. metab ; 46(4): 412-418, ago. 2002.
Article in Portuguese | LILACS | ID: lil-322181

ABSTRACT

O receptor sensível ao cálcio extracelular (CaR) é um receptor acoplado à proteína G (GPCR), que exerce um papel essencial na regulaçäo da homeostase do cálcio extracelular. O CaR encontra-se expresso em todos os tecidos relacionados com o controle desta homeostase (paratiróides, células C tiroideanas, rins, intestino e ossos). Logo após a clonagem do CaR, mutações inativadoras e ativadoras do gene deste receptor foram associadas com doenças genéticas humanas: hipercalcemia hipocalciúrica familiar (FHH) e hiperparatiroidismo neonatal severo (NSHPT) säo causados por mutações inativadoras do gene do CaR, enquanto que a hipocalcemia autossômica dominante é resultante de mutações ativadoras do gene do CaR. Apesar de raras, tais doenças devem ser consideradas no diagnóstico diferencial de distúrbios hipercalcêmicos e hipocalcêmìcos. O reconhecimento do papel fundamental do CaR na manutençäo da homeostase do cálcio extracelular motivou o desenvolvimento de drogas capazes de modular a funçäo do CaR, ativando-o (drogas calcimiméticas) ou inativando-o (drogas calciolíticas). Tais drogas têm uma implicaçäo terapêutica potencial, como o controle clínico de casos específicos de hiperparatiroidismo primário e urêmico com o uso de drogas calcimiméticas e um tratamento promissor para osteoporose com o uso de drogas calciolíticas.


Subject(s)
Humans , Calcium , Calcium Metabolism Disorders , Hypercalcemia , Hypocalcemia , Hypoparathyroidism , Mutation , Calcium Channel Agonists , Homeostasis
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