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1.
J Craniofac Surg ; 33(4): 1143-1146, 2022 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-34739449

RESUMEN

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.


Asunto(s)
Cicatriz , Órbita , Fracturas Orbitales , Cicatriz/cirugía , Párpados/cirugía , Humanos , Órbita/diagnóstico por imagen , Órbita/cirugía , Fracturas Orbitales/diagnóstico por imagen , Fracturas Orbitales/cirugía , Complicaciones Posoperatorias , Estudios Retrospectivos , Cigoma
2.
J Craniofac Surg ; 32(8): e742-e744, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34224457

RESUMEN

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.


Asunto(s)
Aneurisma Falso , Arteria Maxilar , Adulto , Aneurisma Falso/diagnóstico por imagen , Aneurisma Falso/etiología , Craneotomía , Epistaxis/etiología , Femenino , Humanos , Maxilar/cirugía , Arteria Maxilar/cirugía , Osteotomía Le Fort/efectos adversos , Adulto Joven
3.
Int J Mol Sci ; 22(4)2021 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-33672735

RESUMEN

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).


Asunto(s)
Adipocitos/patología , Adipogénesis , Antirretrovirales/efectos adversos , Sulfato de Atazanavir/uso terapéutico , Diferenciación Celular , Estrés del Retículo Endoplásmico , Lipodistrofia/inducido químicamente , Células Madre/patología , Adipocitos/efectos de los fármacos , Adipocitos/metabolismo , Adipogénesis/efectos de los fármacos , Tejido Adiposo/patología , Terapia Antirretroviral Altamente Activa , Apoptosis/efectos de los fármacos , Sulfato de Atazanavir/farmacología , Muerte Celular/efectos de los fármacos , Diferenciación Celular/efectos de los fármacos , Células Cultivadas , Daño del ADN , Chaperón BiP del Retículo Endoplásmico , Estrés del Retículo Endoplásmico/efectos de los fármacos , Humanos , Gotas Lipídicas/efectos de los fármacos , Gotas Lipídicas/metabolismo , Estrés Oxidativo/efectos de los fármacos , Inhibidores de Proteasas/farmacología , Inhibidores de Proteasas/uso terapéutico , Especies Reactivas de Oxígeno/metabolismo , Células Madre/efectos de los fármacos , Células Madre/metabolismo , Factor de Transcripción CHOP/metabolismo
4.
Int J Mol Sci ; 20(21)2019 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-31694186

RESUMEN

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.


Asunto(s)
Adipogénesis , Tejido Adiposo/citología , Lipodistrofia/terapia , Células Madre/citología , Adulto , Terapia Antirretroviral Altamente Activa/efectos adversos , Células Cultivadas , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Humanos , Lipodistrofia/inducido químicamente , Masculino , Trasplante de Células Madre , Cicatrización de Heridas , Adulto Joven
5.
Int Ophthalmol ; 38(1): 345-351, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28054210

RESUMEN

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.


Asunto(s)
Procedimientos Quirúrgicos Oftalmológicos/métodos , Neoplasias Orbitales/cirugía , Osteotomía/métodos , Tumores Fibrosos Solitarios/cirugía , Adulto , Anciano , Antígenos CD34/metabolismo , Biomarcadores de Tumor/metabolismo , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neoplasias Orbitales/diagnóstico , Neoplasias Orbitales/metabolismo , Tumores Fibrosos Solitarios/diagnóstico , Tumores Fibrosos Solitarios/metabolismo , Tomografía Computarizada por Rayos X , Vimentina/metabolismo
6.
Int J Mol Sci ; 19(1)2017 Dec 25.
Artículo en Inglés | MEDLINE | ID: mdl-29295606

RESUMEN

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.


Asunto(s)
Autoinjertos/trasplante , Dermis/patología , Dermis/trasplante , Células Epiteliales/trasplante , Trasplante de Piel , Piel Artificial , Cicatrización de Heridas , Anciano , Células Cultivadas , Cicatriz/patología , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad
7.
Am J Hum Genet ; 92(5): 807-19, 2013 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-23623389

RESUMEN

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.


Asunto(s)
Síndrome de Cockayne/genética , Proteínas de Unión al ADN/genética , Endonucleasas/genética , Anemia de Fanconi/genética , Predisposición Genética a la Enfermedad/genética , Fenotipo , Xerodermia Pigmentosa/genética , Secuencia de Aminoácidos , Secuencia de Bases , Síndrome de Cockayne/enzimología , Síndrome de Cockayne/patología , Cartilla de ADN/genética , Anemia de Fanconi/enzimología , Anemia de Fanconi/patología , Resultado Fatal , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADN , Xerodermia Pigmentosa/enzimología , Xerodermia Pigmentosa/patología
8.
Am J Pathol ; 184(9): 2465-79, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25010393

RESUMEN

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.


Asunto(s)
Cicatriz/patología , Factores de Transcripción Forkhead/metabolismo , Queloide/patología , Cicatrización de Heridas/fisiología , Animales , Western Blotting , Cicatriz/metabolismo , Modelos Animales de Enfermedad , Ensayo de Inmunoadsorción Enzimática , Proteína Forkhead Box O1 , Humanos , Queloide/metabolismo , Macrófagos/inmunología , Ratones , Ratones Noqueados , Microscopía Electrónica de Transmisión , Análisis de Secuencia por Matrices de Oligonucleótidos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
9.
Dermatol Surg ; 40(11): 1225-32, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25310753

RESUMEN

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.


Asunto(s)
Neoplasias de Tejido Vascular/diagnóstico , Malformaciones Vasculares/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/diagnóstico , Carcinoma Adenoide Quístico/diagnóstico , Carcinoma de Células Escamosas/complicaciones , Mejilla , Niño , Preescolar , Diagnóstico Diferencial , Hemangiopericitoma/diagnóstico , Humanos , Lactante , Masculino , Persona de Mediana Edad , Glándula Parótida/irrigación sanguínea
10.
Wound Repair Regen ; 21(1): 141-54, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23228143

RESUMEN

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.


Asunto(s)
Cicatriz/patología , Dermis/patología , Elasticidad , Factor 2 de Crecimiento de Fibroblastos/metabolismo , Fibroblastos/patología , Trasplante de Piel/métodos , Piel Artificial , Cicatrización de Heridas , Animales , Dermis/trasplante , Inmunohistoquímica , Masculino , Metaloproteinasa 2 de la Matriz/metabolismo , Molécula-1 de Adhesión Celular Endotelial de Plaqueta , Ratas , Ratas Desnudas
11.
Rheumatol Int ; 33(11): 2931-6, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23138265

RESUMEN

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.


Asunto(s)
Enfermedades Autoinmunes/patología , Inmunoglobulina G/inmunología , Enfermedades Orbitales/patología , Seudotumor Orbitario/patología , Anciano , Enfermedades Autoinmunes/inmunología , Humanos , Masculino , Enfermedades Orbitales/inmunología , Seudotumor Orbitario/inmunología , Células Plasmáticas/patología
12.
J Tissue Viability ; 22(4): 103-11, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23993047

RESUMEN

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.


Asunto(s)
Úlcera/etiología , Malformaciones Vasculares/complicaciones , Neoplasias Vasculares/complicaciones , Humanos
13.
Wound Repair Regen ; 20(1): 91-102, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22276588

RESUMEN

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.


Asunto(s)
Factor 2 de Crecimiento de Fibroblastos/farmacología , Traumatismos Experimentales por Radiación/patología , Piel/patología , Células Madre/patología , Colgajos Quirúrgicos/patología , Cicatrización de Heridas , Animales , Apoptosis , Inmunohistoquímica , Masculino , Microscopía Electrónica , Dosis de Radiación , Piel/efectos de la radiación , Células Madre/efectos de la radiación , Porcinos , Cicatrización de Heridas/efectos de la radiación
14.
Cleft Palate Craniofac J ; 49(6): 714-7, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21981552

RESUMEN

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.


Asunto(s)
Cromosomas Humanos Par 8/genética , Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Estudios de Casos y Controles , Femenino , Estudio de Asociación del Genoma Completo , Genotipo , Haplotipos , Humanos , Japón , Masculino , Polimorfismo de Nucleótido Simple
15.
J Hum Genet ; 55(2): 124-6, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20075946

RESUMEN

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.


Asunto(s)
Pueblo Asiatico/genética , Cromosomas Humanos Par 2/genética , Fisura del Paladar/genética , Paladar Blando/patología , Mapeo Cromosómico , Fisura del Paladar/patología , Humanos , Escala de Lod , Análisis por Micromatrices , Repeticiones de Microsatélite/genética , Polimorfismo de Nucleótido Simple/genética
16.
Am J Med Genet A ; 152A(9): 2262-7, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20803643

RESUMEN

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.


Asunto(s)
Factores Reguladores del Interferón/genética , Mutación Missense , Pterigion/genética , Anomalías Múltiples/genética , Pueblo Asiatico , Sitios de Unión , Labio Leporino/genética , Fisura del Paladar/genética , Quistes/genética , Análisis Mutacional de ADN , Familia , Humanos , Lactante , Labio/anomalías , Masculino , Fosforilación , Unión Proteica
17.
Wound Repair Regen ; 18(6): 560-6, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20868384

RESUMEN

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.


Asunto(s)
Factor 2 de Crecimiento de Fibroblastos/uso terapéutico , Cuidados Posoperatorios , Pigmentación de la Piel/efectos de los fármacos , Colgajos Quirúrgicos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Cicatriz/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Cicatrización de Heridas , Adulto Joven
18.
J Craniofac Surg ; 21(4): 1072-8, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20613568

RESUMEN

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.


Asunto(s)
Diplopía/cirugía , Fijación Interna de Fracturas/métodos , Fracturas Orbitales/cirugía , Adolescente , Adulto , Niño , Diplopía/diagnóstico por imagen , Diplopía/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/lesiones , Músculos Oculomotores/cirugía , Fracturas Orbitales/complicaciones , Fracturas Orbitales/diagnóstico por imagen , Estadísticas no Paramétricas , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
19.
BMC Genet ; 10: 42, 2009 Aug 04.
Artículo en Inglés | MEDLINE | ID: mdl-19650936

RESUMEN

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.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Axila/fisiopatología , Cerumen/metabolismo , Frecuencia de los Genes , Enfermedades de las Glándulas Sudoríparas/genética , Pueblo Asiatico/genética , Genotipo , Humanos , Fenotipo , Polimorfismo de Nucleótido Simple
20.
Stem Cells ; 25(11): 2956-63, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17702984

RESUMEN

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.


Asunto(s)
Síndromes de Inmunodeficiencia/cirugía , Trasplante de Células Madre Mesenquimatosas/métodos , Regeneración Nerviosa/fisiología , Neuronas Aferentes/fisiología , Cicatrización de Heridas/fisiología , Animales , Femenino , Humanos , Síndromes de Inmunodeficiencia/patología , Masculino , Células Madre Mesenquimatosas/inmunología , Ratas , Ratas Endogámicas F344 , Ratas Desnudas
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