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1.
J Craniofac Surg ; 33(4): 1143-1146, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34739449

RESUMO

ABSTRACT: Percutaneous and transconjunctival approaches are commonly used for fractures of the orbit and orbital rim. However, it leaves visible scarring on the face. Although previous studies reported scarring from the percutaneous approach, few reported the degree of such scarring. The authors examined the degree of scarring associated with percutaneous approaches to fractures of the orbit and orbital rim in the Japanese population. The authors reviewed photographs of patients who were treated surgically for fractures of the orbital floor, medial orbital wall, or zygomatic bone via percutaneous approaches to examine the presence of scarring and deformation. In 36% of all patients, the observers were unable to determine the side on which the surgery was performed. Furthermore, the site of scarring was identified accurately in only 20.6% of the cases in which observers were able to identify the surgical side. The authors' study demonstrated that the subciliary approach left minimal scarring under the eyelashes. On the other hand, the medial canthal approach left depressed and wide scarring, whereas pigmentation was apparent in patients who underwent surgery via the lateral eyebrow approach. Similarly, pigmentation under the eyelashes and at the site of secondary incision was common after the subciliary approach.


Assuntos
Cicatriz , Órbita , Fraturas Orbitárias , Cicatriz/cirurgia , Pálpebras/cirurgia , Humanos , Órbita/diagnóstico por imagem , Órbita/cirurgia , Fraturas Orbitárias/diagnóstico por imagem , Fraturas Orbitárias/cirurgia , Complicações Pós-Operatórias , Estudos Retrospectivos , Zigoma
2.
J Craniofac Surg ; 32(8): e742-e744, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34224457

RESUMO

ABSTRACT: Epistaxis after Le Fort I osteotomy is one of the relatively common postoperative complications. It can be controlled with conservative treatment, such as nasal packing, and will usually improve in a few days. However, if the epistaxis is repeated, the outcome can be life-threatening. A 22-year-old woman underwent Le Fort I osteotomy in order to correct her malocclusion. Postoperatively, pseudoaneurysm was formed in the descending palate artery, causing repeated epistaxis. Then, angiography and embolization were performed. Before the onset of epistaxis, there was discomfort around the nasal area. The patient remained asymptomatic during the 6-month follow-up. Some epistaxis after Le Fort I osteotomy is due to pseudoaneurysm formation in the maxillary artery. It is very rare. The epistaxis is delayed and recurrent. It can cause massive bleeding, and so, requires proper diagnosis and treatment. There may be signs of bleeding as in this case.


Assuntos
Falso Aneurisma , Artéria Maxilar , Adulto , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/etiologia , Craniotomia , Epistaxe/etiologia , Feminino , Humanos , Maxila/cirurgia , Artéria Maxilar/cirurgia , Osteotomia de Le Fort/efeitos adversos , Adulto Jovem
3.
Int J Mol Sci ; 22(4)2021 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-33672735

RESUMO

Lipodystrophy is a common complication in human immunodeficiency virus (HIV)-infected patients receiving highly active antiretroviral therapy (HAART) or antiretroviral therapy (ART). Previous studies demonstrated that endoplasmic reticulum (ER) stress-mediated unfolded protein response (UPR) is involved in lipodystrophy; however, the detailed mechanism has not been fully described in human adipogenic cell lineage. We utilized adipose tissue-derived stem cells (ADSCs) obtained from human subcutaneous adipose tissue, and atazanavir (ATV), a protease inhibitor (PI), was administered to ADSCs and ADSCs undergoing adipogenic conversion. Marked repression of adipogenic differentiation was observed when ATV was administered during 10 days of ADSC culture in adipogenic differentiation medium. Although ATV had no effect on ADSCs, it significantly induced apoptosis in differentiating adipocytes. ATV treatment also caused the punctate appearance of CCAAT-enhancer-binding (C/EBP) protein homologous protein (CHOP), and altered expression of CHOP and GRP78/Bip, which are the representation of ER stress, only in differentiating adipocytes. Administration of UPR inhibitors restored adipogenic differentiation, indicating that ER stress-mediated UPR was induced in differentiating adipocytes in the presence of ATV. We also observed autophagy, which was potentiated in differentiating adipocytes by ATV treatment. Thus, adipogenic cell atrophy leads to ATV-induced lipodystrophy, which is mediated by ER stress-mediated UPR and accelerated autophagy, both of which would cause adipogenic apoptosis. As our study demonstrated for the first time that ADSCs are unsusceptible to ATV and its deleterious effects are limited to the differentiating adipocytes, responsible target(s) for ATV-induced lipodystrophy may be protease(s) processing adipogenesis-specific protein(s).


Assuntos
Adipócitos/patologia , Adipogenia , Antirretrovirais/efeitos adversos , Sulfato de Atazanavir/uso terapêutico , Diferenciação Celular , Estresse do Retículo Endoplasmático , Lipodistrofia/induzido quimicamente , Células-Tronco/patologia , Adipócitos/efeitos dos fármacos , Adipócitos/metabolismo , Adipogenia/efeitos dos fármacos , Tecido Adiposo/patologia , Terapia Antirretroviral de Alta Atividade , Apoptose/efeitos dos fármacos , Sulfato de Atazanavir/farmacologia , Morte Celular/efeitos dos fármacos , Diferenciação Celular/efeitos dos fármacos , Células Cultivadas , Dano ao DNA , Chaperona BiP do Retículo Endoplasmático , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Humanos , Gotículas Lipídicas/efeitos dos fármacos , Gotículas Lipídicas/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Inibidores de Proteases/farmacologia , Inibidores de Proteases/uso terapêutico , Espécies Reativas de Oxigênio/metabolismo , Células-Tronco/efeitos dos fármacos , Células-Tronco/metabolismo , Fator de Transcrição CHOP/metabolismo
4.
Int J Mol Sci ; 20(21)2019 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-31694186

RESUMO

A paradigm shift in plastic and reconstructive surgery is brought about the usage of cell-based therapies for wound healing and regeneration. Considering the imitations in the reconstructive surgeries in restoring tissue loss and deficiency, stem cell-based therapy, in particular, has been expected to pave the way for a new solution to the regenerative approaches. Limitations in the reconstructive surgeries in restoring tissue loss and deficiency have paved the way for new regenerative approaches. Among them, adipose-derived stem/progenitor cells (ADSCs)-based therapy could be the most promising clue, since ADSCs have pluripotent differentiation capabilities not only in adipocytes but also in a variety of cell types. Accumulating evidences have indicated that the unfavorable development of adipose-tissue damage, namely, lipodystrophy, is a systemic complication, which is closely related to metabolic abnormality. Considering ADSC-based regenerative medicine should be applied for the treatment of lipodystrophy, it is inevitable to ascertain whether the ADSCs obtained from the patients with lipodystrophy are capable of being used. It will be very promising and realistic if this concept is applied to lipoatrophy; one form of lipodystrophies that deteriorates the patients' quality of life because of excessive loss of soft tissue in the exposed areas such as face and extremities. Since lipodystrophy is frequently observed in the human immunodeficiency virus (HIV)-infected patients receiving highly active antiretroviral therapy (HAART), the present study aims to examine the biological potentials of ADSCs isolated from the HIV-infected patients with lipodystrophy associated with the HAART treatment. Growth properties, adipogenic differentiation, and mitochondrial reactive oxygen species (ROS) production were examined in ADSCs from HIV-infected and HIV-uninfected patients. Our results clearly demonstrated that ADSCs from both patients showed indistinguishable growth properties and potentials for adipocyte differentiation in vitro. Thus, although the number of cases were limited, ADSCs isolated from the patients with lipodystrophy retain sufficient physiological and biological activity for the reconstitution of adipose-tissue, suggesting that ADSCs from the patients with lipodystrophy could be used for autologous ADSC-based regenerative therapy.


Assuntos
Adipogenia , Tecido Adiposo/citologia , Lipodistrofia/terapia , Células-Tronco/citologia , Adulto , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Células Cultivadas , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Humanos , Lipodistrofia/induzido quimicamente , Masculino , Transplante de Células-Tronco , Cicatrização , Adulto Jovem
5.
Int Ophthalmol ; 38(1): 345-351, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28054210

RESUMO

A solitary fibrous tumor is a neoplasm generally arising from the mesothelial surfaces of the pleura and mesothelium. In this paper, we describe three cases of rare solitary fibrous tumors arising from the orbit and discuss the management of the tumors, including diagnosis and treatment. All three cases were treated by surgical resection and showed satisfactory aesthetic and functional results. For a definitive diagnosis, immunohistochemical staining for proteins such as vimentin, CD34 and bcl-2 and hematoxylin and eosin (H&E) staining for identifying the morphological characteristics of spindle cell tumors with a partially storiform pattern and staghorn vessels are indispensable. The principle of treatment for orbital solitary fibrous tumor is complete resection because the prognosis depends on controlling tumor progression, which can be difficult with chemotherapy and radiotherapy alone.


Assuntos
Procedimentos Cirúrgicos Oftalmológicos/métodos , Neoplasias Orbitárias/cirurgia , Osteotomia/métodos , Tumores Fibrosos Solitários/cirurgia , Adulto , Idoso , Antígenos CD34/metabolismo , Biomarcadores Tumorais/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/metabolismo , Tumores Fibrosos Solitários/diagnóstico , Tumores Fibrosos Solitários/metabolismo , Tomografia Computadorizada por Raios X , Vimentina/metabolismo
6.
Int J Mol Sci ; 19(1)2017 Dec 25.
Artigo em Inglês | MEDLINE | ID: mdl-29295606

RESUMO

Cultured epithelial autografts (CEA) with highly expanded mesh skin grafts were used for extensive adult burns covering more than 30% of the total body surface area. A prospective study on eight patients assessed subjective and objective findings up to a 12-month follow-up. The results of wound healing for over 1:6 mesh plus CEA, gap 1:6 mesh plus CEA, and 1:3 mesh were compared at 3, 6, and 12 months using extensibility, viscoelasticity, color, and transepidermal water loss by a generalized estimating equation (GEE) or generalized linear mixed model (GLMM). No significant differences were observed among the paired treatments at any time point. At 6 and 12 months, over 1:6 mesh plus CEA achieved significantly better expert evaluation scores by the Vancouver and Manchester Scar Scales (p < 0.01). Extended skin grafting plus CEA minimizes donor resources and the quality of scars is equal or similar to that with conventional low extended mesh slit-thickness skin grafting such as 1:3 mesh. A longitudinal analysis of scars may further clarify the molecular changes of scar formation and pathogenesis.


Assuntos
Autoenxertos/transplante , Derme/patologia , Derme/transplante , Células Epiteliais/transplante , Transplante de Pele , Pele Artificial , Cicatrização , Idoso , Células Cultivadas , Cicatriz/patologia , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade
7.
Am J Hum Genet ; 92(5): 807-19, 2013 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-23623389

RESUMO

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF.


Assuntos
Síndrome de Cockayne/genética , Proteínas de Ligação a DNA/genética , Endonucleases/genética , Anemia de Fanconi/genética , Predisposição Genética para Doença/genética , Fenótipo , Xeroderma Pigmentoso/genética , Sequência de Aminoácidos , Sequência de Bases , Síndrome de Cockayne/enzimologia , Síndrome de Cockayne/patologia , Primers do DNA/genética , Anemia de Fanconi/enzimologia , Anemia de Fanconi/patologia , Evolução Fatal , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Análise de Sequência de DNA , Xeroderma Pigmentoso/enzimologia , Xeroderma Pigmentoso/patologia
8.
Am J Pathol ; 184(9): 2465-79, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25010393

RESUMO

The forkhead box O (FOXO) family has been extensively investigated in aging and metabolism, but its role in tissue-repair processes remains largely unknown. Herein, we clarify the molecular aspect of the FOXO family in skin wound healing. We demonstrated that Foxo1 and Foxo3a were both up-regulated during murine skin wound healing. Partial knockout of Foxo1 in Foxo1(+/-) mice throughout the body led to accelerated skin wound healing with enhanced keratinocyte migration, reduced granulation tissue formation, and decreased collagen density, accompanied by an attenuated inflammatory response, but we observed no wound phenotype in Foxo3a(-/-) mice. Fibroblast growth factor 2, adiponectin, and notch1 genes were significantly increased at wound sites in Foxo1(+/-) mice, along with markedly altered extracellular signal-regulated kinase 1/2 and AKT phosphorylation. Similarly, transient knockdown of Foxo1 at the wound site by local delivery of antisense oligodeoxynucleotides enhanced skin wound healing. The link between FOXO1 and scarring extends to patients, in particular keloid scars, where we see FOXO1 expression markedly increased in fibroblasts and inflammatory cells within the otherwise normal dermis. This occurs in the immediate vicinity of the keloid by comparison to the center of the mature keloid, indicating that FOXO1 is associated with the overgrowth of this fibrotic response into adjacent normal skin. Overall, our data indicate that molecular targeting of FOXO1 may improve the quality of healing and reduce pathological scarring.


Assuntos
Cicatriz/patologia , Fatores de Transcrição Forkhead/metabolismo , Queloide/patologia , Cicatrização/fisiologia , Animais , Western Blotting , Cicatriz/metabolismo , Modelos Animais de Doenças , Ensaio de Imunoadsorção Enzimática , Proteína Forkhead Box O1 , Humanos , Queloide/metabolismo , Macrófagos/imunologia , Camundongos , Camundongos Knockout , Microscopia Eletrônica de Transmissão , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase Via Transcriptase Reversa
9.
Dermatol Surg ; 40(11): 1225-32, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25310753

RESUMO

BACKGROUND: Vascular malformations can mimic malignant tumors, and the coexistence of both types of lesions can limit and interfere with treatment. A consecutive series of vascular malformations that were treated and evaluated in a single institute and cases involving vascular anomalies combined with malignancies or malignancies that were treated as vascular anomalies were analyzed. OBJECTIVE: Absolute ethanol is used in the treatment and management of vascular malformations and is sometimes administered before a definitive diagnosis has been obtained, despite the fact that some vascular lesions are subsequently revealed to be malignant tumors. This study discusses such cases. MATERIALS AND METHODS: From January 2006 to August 2012, 139 patients were treated for vascular malformations at Nagasaki University Hospital and were followed up for a minimum of 1 year. RESULTS: Four malignant lesions coexisted with or were misdiagnosed as vascular malformations, including a malignant peripheral nerve sheath tumor located in the chest, a hemangiopericytoma of the palate, an adenoid cystic carcinoma of the cheek, and a squamous cell carcinoma of the cheek. Thus, malignant lesions were detected in 2.88% of cases in which vascular malformations were preoperatively diagnosed. CONCLUSION: When treating vascular malformations, it is advisable to be aware of the possibility of malignancy.


Assuntos
Neoplasias de Tecido Vascular/diagnóstico , Malformações Vasculares/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma de Células Escamosas/complicações , Bochecha , Criança , Pré-Escolar , Diagnóstico Diferencial , Hemangiopericitoma/diagnóstico , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Glândula Parótida/irrigação sanguínea
10.
Wound Repair Regen ; 21(1): 141-54, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23228143

RESUMO

The efficacy of one-stage artificial dermis and skin grafting was tested in a nude rat model. Reconstruction with artificial dermis is usually a two-stage procedure with 2- to 3-week intermission. If one-stage use of artificial dermis and split-thickness skin grafting are effective, the overall burden on patients and the medical cost will markedly decrease. The graft take rate, contraction rate, tissue elasticity, histology, morphometric analysis of the dermal thickness, fibroblast counting, immunohistochemistry of α-smooth muscle actin, matrix metalloproteinase-2, CD31, and F4/80, as well as gelatin zymography, real-time reverse transcriptase polymerase chain reaction for matrix metalloproteinase-2, and electron microscopy, were investigated from day 3 to 3 months postoperatively. The graft take rate was good overall in one-stage artificial dermis and skin grafting groups up to 3 weeks, and the contraction rate was greater in the two-staged artificial dermis and skin grafting group than in the skin grafting alone or one stage of artificial dermis and skin grafting groups. Split-thickness skin grafting with artificial dermis and basic fibroblast growth factor at a concentration of 1 µg/cm(2) showed significantly greater elasticity by Cutometer, and the dermal thickness was significantly thinner, fibroblast counting was significantly greater, and the α-smooth muscle actin expression level was more notable with a more mature blood supply in the dermis and more organized dermal fibrils by electron microscopy at 3 weeks. Thus, one-stage artificial dermis and split-thickness skin grafting with basic fibroblast growth factor show a high graft take rate and better tissue elasticity determined by Cutometer analysis, maturity of the dermis, and increased fibroblast number and blood supply compared to a standard two-stage reconstruction.


Assuntos
Cicatriz/patologia , Derme/patologia , Elasticidade , Fator 2 de Crescimento de Fibroblastos/metabolismo , Fibroblastos/patologia , Transplante de Pele/métodos , Pele Artificial , Cicatrização , Animais , Derme/transplante , Imuno-Histoquímica , Masculino , Metaloproteinase 2 da Matriz/metabolismo , Molécula-1 de Adesão Celular Endotelial a Plaquetas , Ratos , Ratos Nus
11.
Rheumatol Int ; 33(11): 2931-6, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23138265

RESUMO

IgG4-related disease is an emerging disease entity characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells. In IgG4-related disease, tumor-like lesions develop in multiple organs, such as the lacrimal gland, salivary gland, lung, pancreas, kidney, and lymph nodes. We report here three cases of IgG4-related orbital inflammation that presented as unilateral pseudotumors. The patients all were men, with an age range of 65-75 years. The patients had been pointed out unilateral intra-orbital masses, and histopathological examinations revealed marked accumulation of IgG4-positive plasma cells (IgG4/IgG ratio: 51.1-71.6%) with fibrosis. But storiform fibrosis was seen in only one case, and no obliterative phlebitis was seen. The serum levels of IgG4 were increased to 178-670 mg/dL. The masses had well-defined homogeneous signal intensities, and they were hypo-intense on T1-weighted MR images and iso-intense on T2-weighted MR images. Gadolinium enhanced mass lesions in two cases. All orbital mass lesions responded well to corticosteroid treatment.


Assuntos
Doenças Autoimunes/patologia , Imunoglobulina G/imunologia , Doenças Orbitárias/patologia , Pseudotumor Orbitário/patologia , Idoso , Doenças Autoimunes/imunologia , Humanos , Masculino , Doenças Orbitárias/imunologia , Pseudotumor Orbitário/imunologia , Plasmócitos/patologia
12.
J Tissue Viability ; 22(4): 103-11, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23993047

RESUMO

Vascular anomalies comprise vascular tumours and vascular malformations. Some vascular anomalies result in ulcerations and necrosis. In vascular tumours, infantile haemangiomas are predominant and ulceration is demonstrated in up to 16%. In vascular malformations, arteriovenous malformations predominate and frequently demonstrate either primary ulceration or skin necrosis after diagnostic and therapeutic procedures. Various diagnostic and therapeutic imaging methods, such as X-ray, computed tomography (CT), magnetic resonance imaging (MRI), duplex Doppler ultrasound, and angiography, are used to visualize vascular anomalies; angiograms are required when embolization is attempted and blood flow needs to be further investigated. Duplex Doppler ultrasound is useful for routine check-ups as a therapeutic tool; however, it has limited in precision and accuracy. The aim of the present review is to give an overview of wounds related to vascular anomalies, detailing the diagnostic imaging and treatment options.


Assuntos
Úlcera/etiologia , Malformações Vasculares/complicações , Neoplasias Vasculares/complicações , Humanos
13.
Wound Repair Regen ; 20(1): 91-102, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22276588

RESUMO

A high dose of ionizing external radiation damage to the skin and soft tissue results in changes in function as well as in the general body condition. Once radiation surpasses the tissue safety or survival level, progressive alteration in the damaged tissue results in tissue loss and then flap loss. Local expression and action of stem cells or local growth factors in the irradiated tissue is mitigated, and external administration is sought to investigate the possibility of skin and soft tissue survival after an elevating flap. Basic fibroblast growth factor (bFGF) is primarily considered as a potent angiogenic growth factor. In burns, resurfacing with a dermal component is required, and bFGF stimulates wound healing and enhances human skin-derived mesenchymal stem cells under serum-free conditions in a dose-dependent manner. Thirty-five male, 4- to 8-week-old CLAWN miniature pigs received radiation exposure to assess the effectiveness of bFGF in terms of the progressive clinical course relevant to human skin and soft tissue. At 2 weeks following 10-Gy irradiation, tissue was preserved in the group receiving subcutaneous placement of a round-type tissue expander and bFGF. The expander plus bFGF group demonstrated significantly greater dermo-epidermal proliferation than the radiation alone, radiation plus bFGF, or expander plus radiation plus vehicle-solution groups, and new blood vessel formation was significantly increased in the expander tissue with bFGF after irradiation (p < 0.01). Electron microscopy revealed that tissue with expander and bFGF maintained more stable skin adnexae with preserved intact epidermis and dermis. Thus, bFGF improved and maintained the tissue viability after immediate irradiation in the skin and soft tissue.


Assuntos
Fator 2 de Crescimento de Fibroblastos/farmacologia , Lesões Experimentais por Radiação/patologia , Pele/patologia , Células-Tronco/patologia , Retalhos Cirúrgicos/patologia , Cicatrização , Animais , Apoptose , Imuno-Histoquímica , Masculino , Microscopia Eletrônica , Doses de Radiação , Pele/efeitos da radiação , Células-Tronco/efeitos da radiação , Suínos , Cicatrização/efeitos da radiação
14.
Cleft Palate Craniofac J ; 49(6): 714-7, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21981552

RESUMO

OBJECTIVE: Recent genome-wide association studies identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL±P) on 8q24.21, 10q25.3, 13q31.1, 15q13.3, 17q22, and 18q22 in populations of European origin. The purpose of this study was to determine, using DNA samples, whether 8q24.21 was a susceptibility locus for the development of NSCL±P in Japanese patients. METHODS: We used DNA from 167 Japanese NSCL±P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. We performed an association study using 13 single nucleotide polymorphisms (SNPs) selected on the 8q24.21 locus. Genotyping of each SNP was carried out by direct sequencing of genomic DNA. Additionally, a haplotype block was constructed using the selected SNPs. RESULTS: The 13 selected SNPs were successfully genotyped in 357 individuals. The p values obtained were not low enough to indicate a significant association between the haplotypes and the development of NSCL±P in this population. CONCLUSIONS: Our results suggest that the 8q24.21 locus is not associated with susceptibility to NSCL±P in Japanese patients and provide further evidence that ethnicity is a strong factor in determining susceptibility loci, albeit using a limited number of samples. Further studies are needed to identify regions involved in the development of NSCL±P in the Japanese population.


Assuntos
Cromossomos Humanos Par 8/genética , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Estudos de Casos e Controles , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Haplótipos , Humanos , Japão , Masculino , Polimorfismo de Nucleotídeo Único
15.
J Hum Genet ; 55(2): 124-6, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20075946

RESUMO

Cleft of the soft palate (CSP) and the hard palate are subtypes of cleft palate. Patients with either condition often have difficulty with speech and swallowing. Nonsyndromic, cleft palate isolated has been reported to be associated with several genes, but to our knowledge, there have been no detailed genetic investigations of CSP. We performed a genome-wide linkage analysis using a single-nucleotide polymorphism-based microarray platform and successively using microsatellite markers in a family in which six members, across three successive generations, had CSP. A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP.


Assuntos
Povo Asiático/genética , Cromossomos Humanos Par 2/genética , Fissura Palatina/genética , Palato Mole/patologia , Mapeamento Cromossômico , Fissura Palatina/patologia , Humanos , Escore Lod , Análise em Microsséries , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único/genética
16.
Am J Med Genet A ; 152A(9): 2262-7, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20803643

RESUMO

Mutations in the interferon regulatory factor 6 gene (IRF6) cause either popliteal pterygium syndrome (PPS) or Van der Woude syndrome (VWS), allelic autosomal dominant orofacial clefting conditions. To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L). We also found R84L, which together with previous reports on R84 mutations, provided another line of evidence that both syndromes could result from the same mutation probably under an influence of a modifier gene(s). This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS. A luciferase assay of the S424L protein in the other family demonstrated that the mutation decreased the IRF6 transcriptional activity significantly to 6% of that of the wild-type. This finding suggests that the C-terminus region of IRF6 could have an important function in phosphorylation or protein interaction. To our knowledge, this is the first report of mutations observed in Japanese PPS patients.


Assuntos
Fatores Reguladores de Interferon/genética , Mutação de Sentido Incorreto , Pterígio/genética , Anormalidades Múltiplas/genética , Povo Asiático , Sítios de Ligação , Fenda Labial/genética , Fissura Palatina/genética , Cistos/genética , Análise Mutacional de DNA , Família , Humanos , Lactente , Lábio/anormalidades , Masculino , Fosforilação , Ligação Proteica
17.
Wound Repair Regen ; 18(6): 560-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20868384

RESUMO

Color changes of visible and exposed body surfaces, such as the face and extremities, after burn injury or surgery, such as skin grafting, flap, or sclerotherapy for vascular malformations, are sometimes a concern. The consequences reduce the satisfaction of both patients and physicians. An easy and reproducible method has not yet been established for an objective analysis of color changes; therefore, we tested a hand-held color analyzer (NF-333; Nippon Denshoku Co. Ltd) with data transport to a computer database and analysis software for posttreatment skin color change. The parameters included L, a, and b, which measure clarity, red, and yellow, respectively. Two groups were prospectively divided with 20 (11 females and nine males) patients per group. One group received skin grafting plus basic fibroblast growth factor (bFGF) spray daily and the other group received only skin grafting. The patients were randomized by the date of their first visit to our hospital. Patients were treated with bFGF on odd days, while patients who came on even days were included in the non-bFGF-treated group. The donor site for skin grafting was the lateral thighs and the thickness was similar in both groups. The results were compared at 1-year posttreatment follow-up. Clinical and objective assessments of the scars were performed 1 to years after complete healing. Color change differentials in comparison with the surrounding skin were lower with bFGF treatment in all parameters (p<0.01), along with clinical assessment with the Vancouver Scar Scale; therefore, the treatment contribute to a better color match with skin grafting postoperatively.


Assuntos
Fator 2 de Crescimento de Fibroblastos/uso terapêutico , Cuidados Pós-Operatórios , Pigmentação da Pele/efeitos dos fármacos , Retalhos Cirúrgicos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cicatriz/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Cicatrização , Adulto Jovem
18.
J Craniofac Surg ; 21(4): 1072-8, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20613568

RESUMO

The indications for surgical repair of the orbital blowout fracture are controversial. One reason may be case variation among fracture types. We therefore focused on linear-type blowout fractures in this study. The study included 22 consecutive patients with linear-type floor fractures. Demographics, clinical and computed tomographic (CT) findings, surgical timing, postoperative course, and outcome were evaluated. Surgery was performed in 14 patients with diplopia but not enophthalmos. Five patients with severe vertical diplopia were defined as "missing rectus" by CT findings. Residual diplopia remained in 2 patients with "missing rectus," whereas the other 20 patients completely recovered eye motility. In the 9 patients without muscle entrapment, diplopia disappeared within 4 weeks after operation. However, recovery in patients with "missing rectus" took more than 1 month. Thus, the CT finding with or without muscle involvement was crucial for the linear-type blowout fractures. A comprehensive and timely decision based on clinical and radiologic findings is indispensable for satisfactory management as well as postoperative rehabilitation.


Assuntos
Diplopia/cirurgia , Fixação Interna de Fraturas/métodos , Fraturas Orbitárias/cirurgia , Adolescente , Adulto , Criança , Diplopia/diagnóstico por imagem , Diplopia/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/lesões , Músculos Oculomotores/cirurgia , Fraturas Orbitárias/complicações , Fraturas Orbitárias/diagnóstico por imagem , Estatísticas não Paramétricas , Tomografia Computadorizada por Raios X , Resultado do Tratamento
19.
BMC Genet ; 10: 42, 2009 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-19650936

RESUMO

BACKGROUND: Two types of cerumen occur in humans: the wet type with brownish, sticky earwax, and the dry type with a lack of or reduced ceruminous secretion. The wet type is common in populations of European and African origin, while the dry type is frequently seen in Eastern Asian populations. An association between axillary odor and the wet-type earwax was first identified approximately 70 years ago. The data were based on a phenotypical analysis of the two phenotypes among the Japanese by a researcher or by self-declaration of the subjects examined, and were not obtained using definite diagnostic methods. Recently, we identified a single-nucleotide polymorphism (SNP; rs17822931) of the ABCC11 gene as the determinant of the earwax types. In the present study, to determine whether the SNP can serve as a diagnostic marker for axillary osmidrosis (AO), we examined genotypes at rs17822931 in 79 Japanese AO individuals. AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands. RESULTS: A comparison of the frequencies of genotypes at rs17822931 in the 79 AO individuals and in 161 Japanese from the general population showed that AO was strongly associated with the wet earwax genotype. A total of 78 (98.7%) of 79 AO patients had either the GG or GA genotype, while these genotypes were observed in 35.4% (57/161) of the subjects from the general population (p < 1.1 x 10(-24), by Fisher's exact test). CONCLUSION: The strong association between the wet-earwax associated ABCC11-genotypes (GG and GA) and AO identified in this study indicates that the genotypes are good markers for the diagnosis of AO. In addition, these results suggest that having the allele G is a prerequisite for the axillary odor expression. In other words, the ABCC11 protein may play a role in the excretory function of the axillary apocrine gland. Together, these results suggest that when an AO individual visiting a hospital is diagnosed with dry-type earwax by ABCC11-genotyping, surgical removal of their axillary glands may not be indicated.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Axila/fisiopatologia , Cerume/metabolismo , Frequência do Gene , Doenças das Glândulas Sudoríparas/genética , Povo Asiático/genética , Genótipo , Humanos , Fenótipo , Polimorfismo de Nucleotídeo Único
20.
Stem Cells ; 25(11): 2956-63, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17702984

RESUMO

The sensory nerve is highly involved in lower extremity wound healing. In diabetic and vascular diseases, impaired nerve function and blood flow delay wound healing. Tissue regeneration using adult stem cells is a targeted therapeutic modality in disorders of nerve and blood supply. Effective delivery using an autologous vascularized fascial flap as a vehicle of stem cells leads to severed sensory nerve recovery, local tissue blood flow, and wound healing. Human MSCs (hMSCs) were transfected with green fluorescent protein (GFP) cDNA and tested for efficiency and proliferation in vitro. The nude rat model with femoral vessel and saphenous nerve severance and ligation was wrapped with a vascularized epigastric flap for GFP-hMSC, fibroblast growth factor-2 (FGF-2), or a combination of both after 2 weeks. Maximum nerve conduction velocity recovered to 70% of the presurgical level in the GFP-hMSC- and FGF-2-treated group at 2 weeks. Blood flow and nerve conduction velocity were positively correlated at 1 week. Wound healing in the ipsilateral paw had significantly improved by 1 week. Histologically, blood vessels and nerves are very organized, and regenerated neuron immunoreactivity of GAP-43 and a nerve regrowth marker of S-100 were remarkable in the human GFP (hGFP)-hMSC and FGF-2-treated group at 2 weeks; therefore, sensory nerve regeneration, blood flow, and wound healing were improved by the administration of stem cells and FGF-2 via a vascularized flap. This may be implicated in clinical denervated and reduced circulation tissue wound healing.


Assuntos
Síndromes de Imunodeficiência/cirurgia , Transplante de Células-Tronco Mesenquimais/métodos , Regeneração Nervosa/fisiologia , Neurônios Aferentes/fisiologia , Cicatrização/fisiologia , Animais , Feminino , Humanos , Síndromes de Imunodeficiência/patologia , Masculino , Células-Tronco Mesenquimais/imunologia , Ratos , Ratos Endogâmicos F344 , Ratos Nus
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