Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
1.
Am J Obstet Gynecol ; 230(3): 356.e1-356.e10, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37741531

RESUMO

BACKGROUND: Prenatal diagnosis of cleft palate is challenging. Numerous 2-dimensional and 3-dimensional methods have been proposed to assess the integrity of the fetal palate, yet detection rates remain relatively low. We propose the "Hard Palate Sweep," a novel 2-dimensional method that enables clear demonstration of the entire fetal palate throughout pregnancy, in a single sweep, avoiding acoustic shadows cast by surrounding bones. OBJECTIVE: This study aimed to assess the feasibility and performance of the Hard Palate Sweep, performed throughout pregnancy. STUDY DESIGN: This was a prospective cross-sectional study performed between 2018 and 2022 in pregnant patients referred for a routine or targeted anomaly scan between 13 and 40 weeks of gestation. The presence or absence of a cleft palate was determined using the "Hard Palate Sweep." This was compared with the postnatal palate integrity assessment. Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive values were calculated. Offline clips were reviewed by 2 investigators for the assessment of inter- and intraoperator agreement, using Cohen's kappa formula. The study protocol was approved by the institutional ethics committee. All participating patients were informed and provided consent. RESULTS: A total of 676 fetuses were included in the study. The Hard Palate Sweep was successfully performed in all cases, and 19 cases were determined to have a cleft palate. Of these, 13 cases were excluded because postmortem confirmation was not performed, leaving 663 cases available for analysis. Six cases determined to have a cleft palate were confirmed postnatally. In 655 of 657 cases prenatally determined to have an intact palate, this was confirmed postnatally. In the 2 remaining cases, rare forms of cleft palate were diagnosed postnatally, rendering 75% sensitivity, 100% specificity, 100% positive predictive value, and 99.7% negative predictive value for the Hard Palate Sweep (P<.001). There was complete intra- and interoperator agreement (kappa=1; P<.0001). CONCLUSION: The Hard Palate Sweep is a feasible and accurate method for prenatally detecting a cleft palate. It was successfully performed in all attempted cases between 13 and 40 weeks of gestation. This method is reproducible, offering high sensitivity and specificity. Implemented routinely, the Hard Palate Sweep is expected to increase the prenatal detection of cleft palate.


Assuntos
Fenda Labial , Fissura Palatina , Gravidez , Feminino , Humanos , Fissura Palatina/diagnóstico por imagem , Palato Duro/diagnóstico por imagem , Fenda Labial/diagnóstico por imagem , Estudos Prospectivos , Estudos Transversais , Ultrassonografia Pré-Natal/métodos
2.
Craniomaxillofac Trauma Reconstr ; 13(4): 313-328, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33456703

RESUMO

STUDY DESIGN: Systematic review of hyaluronic acid (HA)-related complications. OBJECTIVE: To systematically review all available literature including case reports and case series to identify a pattern for the management of vascular compromise resulting in facial skin ischemia and ocular manifestations following HA injection. METHODS: This review was based on a systematic search of 3 electronic databases PubMed, CINAHL, and Scopus for all available literature including case series and case reports from database inception to July 2019. Only a total of 52 case reports/series were eligible for review and included 107 patients. RESULTS: The reviewed literature available was comprised from case reports/series and indicated that management of both impending skin necrosis and visual disturbances is variable with no repetitive pattern of action. Yet, successful management is time dependent as early interventions stopped progression and, in some cases, even reversed adverse effects. CONCLUSION: Results found no universal protocol for achieving optimal results for adverse effects and as such, we present a step-by-step algorithm for the emergency management of complications following HA injection.

3.
Stem Cell Res Ther ; 10(1): 53, 2019 02 13.
Artigo em Inglês | MEDLINE | ID: mdl-30760321

RESUMO

BACKGROUND: Insulin-dependent diabetes is a multifactorial disorder that could be theoretically cured by functional pancreatic islets and insulin-producing cell (IPC) implantation. Regenerative medicine approaches include the potential for growing tissues and organs in the laboratory and transplanting them when the body cannot heal itself. However, several obstacles remain to be overcome in order to bring regenerative medicine approach for diabetes closer to its clinical implementation; the cells generated in vitro are typically of heterogenic and immature nature and the site of implantation should be readily vascularized for the implanted cells to survive in vivo. The present study addresses these two limitations by analyzing the effect of co-implanting IPCs with vasculature promoting cells in an accessible site such as subcutaneous. Secondly, it analyzes the effects of reconstituting the in vivo environment in vitro on the maturation and function of insulin-producing cells. METHODS: IPCs that are generated by the transdifferentiation of human liver cells are exposed to the paracrine effects of endothelial colony-forming cells (ECFCs) and human bone marrow mesenchymal stem cells (MSCs), which are the "building blocks" of the blood vessels. The role of the vasculature on IPC function is analyzed upon subcutaneous implantation in vivo in immune-deficient rodents. The paracrine effects of vasculature on IPC maturation are analyzed in culture. RESULTS: Co-implantation of MSCs and ECFCs with IPCs led to doubling the survival rates and a threefold increase in insulin production, in vivo. ECFC and MSC co-culture as well as conditioned media of co-cultures resulted in a significant increased expression of pancreatic-specific genes and an increase in glucose-regulated insulin secretion, compared with IPCs alone. Mechanistically, we demonstrate that ECFC and MSC co-culture increases the expression of CTGF and ACTIVINßα, which play a key role in pancreatic differentiation. CONCLUSIONS: Vasculature is an important player in generating regenerative medicine approaches for diabetes. Vasculature displays a paracrine effect on the maturation of insulin-producing cells and their survival upon implantation. The reconstitution of the in vivo niche is expected to promote the liver-to-pancreas transdifferentiation and bringing this cell therapy approach closer to its clinical implementation.


Assuntos
Transdiferenciação Celular/fisiologia , Células Secretoras de Insulina/metabolismo , Fígado/fisiologia , Adulto , Animais , Células Cultivadas , Modelos Animais de Doenças , Humanos , Células Secretoras de Insulina/citologia , Camundongos
4.
Ann Plast Surg ; 81(3): 305-310, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29905603

RESUMO

INTRODUCTION: Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, glossoptosis, and consequent airway obstruction. Although TC and RS are often grouped together, airway outcomes of bilateral mandibular distraction osteogenesis (MDO) have not been specifically studied in TC. The purpose of this study is to report on the clinical outcomes of MDO in the TC patient population. MATERIALS AND METHODS: A twenty-year single-institution retrospective review of all patients with TC who underwent bilateral MDO was performed. Twenty-four patients were identified after exclusion due to different diagnoses or insufficient medical records. Data on comorbidities, airway status, MDO operations, and complications were collected. Data were compared with published clinical outcomes in RS and data for 13 RS patients from our institution. RESULTS: Surgical success, defined as prevention of imminent tracheostomy or successful decannulation within 1 year after primary distraction, was observed in 21% of TC patients and 65% of RS patients (P = 0.01). Repeat distraction was necessary for 11 TC patients (46%) and 1 RS patient. Complications were divided into minor, moderate, and major based on need for invasive management. Overall, 67% of TC patients had complications, 20% of which were major. CONCLUSIONS: Clinical outcomes to airway function after MDO are significantly inferior in patients with TC compared with patients with RS. Repeat MDO and longer course to decannulation are more prevalent in patients affected by TC.


Assuntos
Obstrução das Vias Respiratórias/cirurgia , Mandíbula/cirurgia , Disostose Mandibulofacial/cirurgia , Osteogênese por Distração , Traqueostomia , Adolescente , Obstrução das Vias Respiratórias/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Remoção de Dispositivo , Feminino , Seguimentos , Humanos , Lactente , Masculino , Disostose Mandibulofacial/complicações , Síndrome de Pierre Robin/cirurgia , Complicações Pós-Operatórias/epidemiologia , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Traqueostomia/instrumentação , Traqueostomia/métodos , Resultado do Tratamento
5.
Oncotarget ; 7(3): 2220-8, 2016 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-26745675

RESUMO

Immune suppression following major thermal injury directly impacts the recovery potential. Limited data from past reports indicate that natural killer cells might be suppressed due to a putative soluble factor that has remained elusive up to date. Here we comparatively study cohorts of patients with Major and Non-Major Burns as well as healthy donors. MICB and ULBP1 are stress ligands of NKG2D that can be induced by heat stress. Remarkably, serum concentration levels of MICB and ULBP1 are increased by 3-fold and 20-fold, respectively, already within 24h post major thermal injury, and are maintained high for 28 days. In contrast, milder thermal injuries do not similarly enhance the serum levels of MICB and ULBP1. This kinetics coincides with a significant downregulation of NKG2D expression among peripheral blood NK cells. Downregulation of NKG2D by high concentration of soluble MICB occurs in cancer patients and during normal pregnancy due to over production by cancer cells or extravillous trophoblasts, respectively, as an active immune-evasion mechanism. In burn patients this seems an incidental outcome of extensive thermal injury, leading to reduced NKG2D expression. Enhanced susceptibility of these patients to opportunistic viral infections, particularly herpes viruses, could be explained by the reduced NKG2D expression. Further studies are warranted for translation into innovative diagnostic or therapeutic technologies.


Assuntos
Queimaduras/patologia , Antígenos de Histocompatibilidade Classe I/sangue , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Células Matadoras Naturais/imunologia , Subfamília K de Receptores Semelhantes a Lectina de Células NK/imunologia , Adulto , Queimaduras/sangue , Queimaduras/imunologia , Feminino , Proteínas Ligadas por GPI/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Subfamília K de Receptores Semelhantes a Lectina de Células NK/biossíntese , Neoplasias/metabolismo , Infecções Oportunistas/imunologia , Adulto Jovem
6.
Wounds ; 27(5): 118-222, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25965180

RESUMO

BACKGROUND: Closure of fasciotomy wounds poses a challenge, particularly in pediatric cardiac patients who are too high risk for general anesthesia and often require anticoagulant treatment. The adhesive skin closure technique enables wound closure without the need for a secondary procedure such as surgery requiring anesthesia. OBJECTIVES: This study sought to describe a treatment modality that assists in fasciotomy wound edge approximation without the need for surgery, while additionally aiding in achieving fast and aesthetic results in the aforementioned patient population. A case series of 4 pediatric patients with fasciotomy wounds is presented. MATERIALS AND METHODS: Adhesive skin closure strips (Steri-Strips, 3M, St. Paul, MN) were placed perpendicular to the cleansed wound leaving small gaps for drainage, thus achieving complete propinquity. The strips were replaced sequentially with new strips every 2 to 3 days. Digital pictures of the wounds were obtained until complete closure of the wounds was achieved. Outcome variables included wound closure success rates and complication rates including infection, bleeding, and late scar formation. RESULTS: Patient ages ranged from 2 weeks to 2 years, 9 months (mean: 10.5 months), average period of open wound prior to closure was 6.75 days (range: 5-11 days), treatment duration ranged from 15 to 26 days (mean: 21 days), and average follow-up was 4.5 months. One patient died due to their primary condition. No local infections, wound dehiscence with the treatment regimen, or any other immediate complications were encountered. There was a late complication in 1 patient who presented with a hypertrophic scar. CONCLUSIONS: Use of the adhesive skin closure method to close fasciotomy wounds in pediatric patients in which surgical procedures were nonadvisable produced favorable results.


Assuntos
Síndromes Compartimentais/cirurgia , Fasciotomia , Deiscência da Ferida Operatória/prevenção & controle , Adesivos Teciduais , Técnicas de Fechamento de Ferimentos , Pré-Escolar , Fáscia/patologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Guias de Prática Clínica como Assunto , Resultado do Tratamento , Técnicas de Fechamento de Ferimentos/instrumentação , Cicatrização
7.
Exp Dermatol ; 24(8): 618-22, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25939713

RESUMO

Alopecia-neurological defects-endocrinopathy (ANE) syndrome is a rare inherited hair disorder, which was shown to result from decreased expression of the RNA-binding motif protein 28 (RBM28). In this study, we attempted to delineate the role of RBM28 in hair biology. First, we sought to obtain evidence for the direct involvement of RBM28 in hair growth. When RBM28 was downregulated in human hair follicle (HF) organ cultures, we observed catagen induction and HF growth arrest, indicating that RBM28 is necessary for normal hair growth. We also aimed at identifying molecular targets of RBM28. Given that an RBM28 homologue was recently found to regulate miRNA biogenesis in C. elegans and given the known pivotal importance of miRNAs for proper hair follicle development, we studied global miRNA expression profile in cells knocked down for RBM28. This analysis revealed that RBM28 controls the expression of miR-203. miR-203 was found to regulate in turn TP63, encoding the transcription factor p63, which is critical for hair morphogenesis. In conclusion, RBM28 contributes to HF growth regulation through modulation of miR-203 and p63 activity.


Assuntos
Alopecia/metabolismo , Doenças do Sistema Endócrino/metabolismo , Regulação da Expressão Gênica , Folículo Piloso/metabolismo , Deficiência Intelectual/metabolismo , MicroRNAs/fisiologia , Proteínas de Ligação a RNA/fisiologia , Fatores de Transcrição/fisiologia , Proteínas Supressoras de Tumor/fisiologia , Alopecia/fisiopatologia , Células Cultivadas , Doenças do Sistema Endócrino/fisiopatologia , Genes Reporter , Cabelo/crescimento & desenvolvimento , Folículo Piloso/crescimento & desenvolvimento , Humanos , Deficiência Intelectual/fisiopatologia , Queratinócitos/metabolismo , Morfogênese , Técnicas de Cultura de Órgãos , Interferência de RNA , RNA Interferente Pequeno/genética , Proteínas de Ligação a RNA/genética , Transfecção , Regulação para Cima
9.
Clin Imaging ; 39(3): 408-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25680501

RESUMO

PURPOSE: We present our use of magnetic resonance (MR) measurement to determine the amount of residual breast tissue (RBT) following total mastectomy with reconstruction. METHODS: Breast MR images of 45 women who underwent surgery between January and November 2011 were reviewed. The cohort included therapeutic and prophylactic mastectomies. RBT was evaluated at four points with a digital caliper assessing T2-weighted and T1-weighted images. RESULTS: Patients undergoing mastectomy for carcinoma tended to have less RBT than in prophylactic surgery. Greater age and recent surgery both correlated with larger RBT. CONCLUSIONS: Variable thickness of RBT is demonstrable following mastectomy and implant reconstruction using MR imaging.


Assuntos
Implantes de Mama , Mama/anatomia & histologia , Imageamento por Ressonância Magnética , Mastectomia , Procedimentos de Cirurgia Plástica , Adulto , Fatores Etários , Meios de Contraste , Feminino , Humanos , Aumento da Imagem , Pessoa de Meia-Idade , Compostos Organometálicos , Período Pós-Operatório , Silicones , Fatores de Tempo
10.
J Drugs Dermatol ; 11(8): 988-90, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22859245

RESUMO

Repair of full thickness defects in the lower eyelid following extirpation of malignant tumors presents a challenge to the reconstructive surgeon. There are several techniques to choose from, depending on the defect's size and location.


Assuntos
Neoplasias Palpebrais/cirurgia , Pálpebras/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Idoso , Idoso de 80 Anos ou mais , Estética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs
11.
Aesthetic Plast Surg ; 36(5): 1015-8, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22678137

RESUMO

BACKGROUND: Abdominal fascia plication using a simple continuous suture can sometimes cause tears in the fascia. This problem can be circumvented when the continuous horizontal mattress suture is used. No data exist from comparing the two suturing techniques. The aim of this study was to examine which technique can potentially cause greater tissue damage. The time required to perform each type of suture was also recorded. METHODS: Wound closure pads were plicated using the simple continuous and continuous horizontal mattress techniques performed by a single operator using Ethilon 2-0 nylon sutures. To verify their resilience, plastic bags were inflated beneath the pads to 30, 60, and 120 mmHg and tears were recorded. The time needed to perform the procedures was recorded using a stopwatch. RESULTS: Mean time for the continuous vertical mattress suture was 87 s and for the simple continuous suture 116 s. Tears in the pad that was plicated with the simple continuous pattern were significantly longer than those in the pad plicated with the continuous horizontal mattress pattern (fissure mean length ± SD = 3.958 ± 0.157 vs. 2.736 ± 0.157, respectively, p < 0.001). This finding was true for each of the three measured pressures (fissure mean length for 30 mmHg was 3.40 ± 1.807 vs. 2.12 ± 1.709 cm; for 60 mmHg, 3.94 ± 2.90 vs. 2.90 ± 1.893 cm; and for 120 mmHg, 4.54 ± 1.924 vs. 3.19 ± 2.110 cm; p < 0.001). CONCLUSIONS: Continuous horizontal mattress pattern sutures were found to be superior to simple continuous pattern sutures in the suggested model, in terms of suturing time and damage to the pad. Further research in human subjects is still required. LEVEL OF EVIDENCE II: This journal requires that authors assign a level of evidence to each article.


Assuntos
Abdominoplastia/métodos , Fasciotomia , Técnicas de Sutura , Humanos , Modelos Anatômicos
13.
Aesthetic Plast Surg ; 35(6): 1073-8, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21559990

RESUMO

Many women have a dwindled ptotic breast. The surgical solution for these two concurring problems has two separate procedures: augmentation and mastopexy. Combining these two procedure into one surgery is considered unpredictable and avoided by many physicians. This study presents a revised mastopexy-augmentation technique found to be safer and more simple, enabling these two procedures to be performed together. A retrospective review of 60 patients who underwent surgery by a single surgeon is presented. The presented method has yielded a relatively low reoperation rate of 10% and a high satisfaction rate.


Assuntos
Mamoplastia/métodos , Adulto , Idoso , Algoritmos , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
14.
Burns ; 37(3): 367-76, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21130580

RESUMO

In the modern era of fiscal prudence, managing the relationship between quality health care and cost reduction is a complex and challenging task for policy makers and health care providers. Health economics is an applied field that aids in assessing the feasibility of incorporating new interventions in a certain field. Applying these tools when allocating funds for burn care is even more complicated due to the lack of clinical data regarding the cost effectiveness of different aspects in burn care. Herein we review the existing literature and summarize different approaches for achieving cost effective health care in general and in burn care specifically. Special considerations to funds allocation in burn care are also discussed.


Assuntos
Unidades de Queimados/economia , Queimaduras/terapia , Atenção à Saúde/economia , Qualidade da Assistência à Saúde/economia , Unidades de Queimados/organização & administração , Queimaduras/economia , Análise Custo-Benefício , Atenção à Saúde/organização & administração , Atenção à Saúde/normas , Prioridades em Saúde , Humanos , Guias de Prática Clínica como Assunto
15.
Cancer Immunol Immunother ; 59(2): 215-30, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19633846

RESUMO

It was previously shown that CEACAM1 on melanoma cells strongly predicts poor outcome. Here, we show a statistically significant increase of serum CEACAM1 in 64 active melanoma patients, as compared to 48 patients with no evidence of disease and 37 healthy donors. Among active patients, higher serum CEACAM1 correlated with LDH values and with decreased survival. Multivariate analysis with neutralization of LDH showed that increased serum CEACAM1 carries a hazard ratio of 2.40. In vitro, soluble CEACAM1 was derived from CEACAM1(+), but neither from CEACAM1(-) melanoma cells nor from CEACAM1(+) lymphocytes, and directly correlated with the number of CEACAM1(+) melanoma cells. Production of soluble CEACAM1 depended on intact de novo protein synthesis and secretion machineries, but not on metalloproteinase function. An unusually high percentage of CEACAM1(+) circulating NK and T lymphocytes was demonstrated in melanoma patients. CEACAM1 inhibited killing activity in functional assays. CEACAM1 expression could not be induced on lymphocytes by serum from patients with high CEACAM1 expression. Further, expression of other NK receptors was impaired, which collectively indicate on a general abnormality. In conclusion, the systemic dysregulation of CEACAM1 in melanoma patients further denotes the role of CEACAM1 in melanoma and may provide a basis for new tumor monitoring and prognostic platforms.


Assuntos
Antígenos CD/sangue , Antígenos CD/imunologia , Moléculas de Adesão Celular/sangue , Moléculas de Adesão Celular/imunologia , Melanoma/sangue , Melanoma/imunologia , Neoplasias Cutâneas/sangue , Neoplasias Cutâneas/imunologia , Adulto , Idoso , Feminino , Humanos , Células Matadoras Naturais/imunologia , Masculino , Pessoa de Meia-Idade , Subfamília C de Receptores Semelhantes a Lectina de Células NK/imunologia , Receptor 1 Desencadeador da Citotoxicidade Natural/imunologia , Receptor 3 Desencadeador da Citotoxicidade Natural/imunologia , Receptores de IgG/imunologia , Linfócitos T/imunologia
17.
J Burn Care Res ; 28(6): 849-53, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17925650

RESUMO

We report the use of expanded reverse abdominoplasty in three female patients with postburn scars involving the entire epigastric region in which the inframammary folds were effaced, resulting in distortion of breast contour. In two of the patients, tissue expanders were used, and subsequently, reverse abdominoplasty was performed, thus re-creating the inframammary fold. The third patient reported to be pregnant after expanders were placed; therefore, smaller volumes of inflation for tissue expansion were necessary. We believe that this procedure is an optimal solution, both aesthetically and functionally, in respect to other reconstructive techniques in female patients with normal skin inferior to epigastric burns. The surgical technique and results are discussed.


Assuntos
Mama/cirurgia , Queimaduras/cirurgia , Contratura/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Traumatismos Abdominais/cirurgia , Adolescente , Adulto , Mama/lesões , Queimaduras/complicações , Cicatriz/etiologia , Cicatriz/cirurgia , Contratura/etiologia , Feminino , Humanos , Traumatismos Torácicos/cirurgia , Expansão de Tecido
18.
Hum Mutat ; 21(1): 99, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12497639

RESUMO

Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE), as the mutated gene in the prototype form of the disease presenting quadriceps sparing, particularly common in Middle Eastern Jews. Interestingly, we have identified the homozygous M712T Middle Eastern Jewish mutation also in two unrelated Middle Eastern Moslem families. We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype. A total of 14 GNE mutations were identified (one nonsense and 13 missense), of which six are novel: an homozygous missense mutation in a consanguineous family from Italy and in a non consanguineous family from USA, and distinct compound heterozygotes in families from Germany, Italy, Ireland, Bahamas, USA and East India. This study brings to 17 the number of reported GNE mutations in quadriceps sparing myopathy, occurring either in the epimerase or the kinase domain of the enzyme. The mechanism leading to this unique phenotype still remains to be elucidated.


Assuntos
Carboidratos Epimerases/genética , Proteínas de Escherichia coli , Mutação , Miosite de Corpos de Inclusão/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Adolescente , Adulto , Análise Mutacional de DNA , Humanos , Pessoa de Meia-Idade , Miosite de Corpos de Inclusão/diagnóstico , Miosite de Corpos de Inclusão/etnologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...