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1.
Rev Sci Instrum ; 95(10)2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39373604

RESUMO

Laser-plasma interactions have been demonstrated to produce bright sources of energetic radiation including ions, electrons, photons across the electro-magnetic spectrum, and neutrons. Combinations of species can significantly increase information from non-destructive imaging. Here we demonstrate single-shot co-axial radiography with both x-ray and fast-neutron radiation from a laser-driven source using a pair of gated microchannel plate photomultiplier tube channels and a fast scintillator medium. The outlined system demonstrates recovery full-width-half-maximum of (18 ± 3) ns, which is sufficient to isolate x-rays from neutrons up to (72 ± 20) MeV and could be isolated only a short distance (2 m) from the target.

2.
Pediatr Pulmonol ; 2024 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-39315740

RESUMO

BACKGROUND: Cystic Fibrosis (CF) is associated with compromised nutrition status, which is responsible for morbidity and mortality along with lung function decline. This study was designed to examine changes in anthropometric markers and body composition parameters by bioelectrical impedance analysis after CFTR modulator (CFTRm) treatment. METHODS: We compared anthropometric parameters and body composition before and after 6 and 12 months of CFTRm treatment. Results are stratified into subgroups according to the modulator used with dual therapy with lumacaftor + ivacaftor or tezacaftor + ivacaftor (LUMA/TEZ + IVA) or triple therapy with elexacaftor + tezacaftor + ivacaftor (ELE + TEZ + IVA). Body composition data are available in patients treated with ELE + TEZ + IVA. RESULTS: Two hundred and thirty-four children (55.1% male) were recruited. The median age was 13.6 years (inter-quartile range [IQR] 10.7-16.1). We can observe a statistically significant increase in the weight Z score and BMI Z score after CFTRm. In terms of changes in body composition, we observe a significant increase in fat mass (FM) expressed both in kilograms and as a percentage at 6 months (p < .05; Wilcoxon-test), with no such differences found at 12 months. We also observe a statistically significant increase in fat-free-mass (FFM), expressed in kilograms at 6 and 12 months (p < .05; Wilcoxon-test). CONCLUSION: Weight status improved and changes in body composition occurred in children after CFTRm therapy, including an increase of fat mass. Further studies are needed to confirm these changes in body composition and their impact on disease progression.

3.
Dev Biol ; 515: 151-159, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39067503

RESUMO

Many salamanders can completely regenerate a fully functional limb. Limb regeneration is a carefully coordinated process involving several defined stages. One key event during the regeneration process is the patterning of the blastema to inform cells of what they must differentiate into. Although it is known that many genes involved in the initial development of the limb are re-used during regeneration, the exact molecular circuitry involved in this process is not fully understood. Several large-scale transcriptional profiling studies of axolotl limb regeneration have identified many transcription factors that are up-regulated after limb amputation. Sall4 is a transcription factor that has been identified to play essential roles in maintaining cells in an undifferentiated state during development and also plays a unique role in limb development. Inactivation of Sall4 during limb bud development results in defects in anterior-posterior patterning of the limb. Sall4 has been found to be up-regulated during limb regeneration in both Xenopus and salamanders, but to date it function has been untested. We confirmed that Sall4 is up-regulated during limb regeneration in the axolotl using qRT-PCR and identified that it is present in the skin cells and also in cells within the blastema. Using CRISPR technology we microinjected gRNAs specific for Sall4 complexed with cas9 protein into the blastema to specifically knockout Sall4 in blastema cells only. This resulted in limb regenerate defects, including missing digits, fusion of digit elements, and defects in the radius and ulna. This suggests that during regeneration Sall4 may play a similar role in regulating the specification of anterior-proximal skeletal elements.


Assuntos
Ambystoma mexicanum , Padronização Corporal , Extremidades , Regeneração , Fatores de Transcrição , Animais , Regeneração/genética , Regeneração/fisiologia , Fatores de Transcrição/metabolismo , Fatores de Transcrição/genética , Extremidades/fisiologia , Extremidades/embriologia , Ambystoma mexicanum/genética , Ambystoma mexicanum/fisiologia , Padronização Corporal/genética , Regulação da Expressão Gênica no Desenvolvimento/genética , Proteínas de Anfíbios/genética , Proteínas de Anfíbios/metabolismo
4.
Kidney Int Rep ; 9(4): 1031-1039, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38765583

RESUMO

Introduction: Tolvaptan has been shown to reduce renal volume and delay disease progression in autosomal-dominant polycystic kidney disease (ADPKD). However, no biomarkers are currently available to guide dose adjustment. We aimed to explore the possibility of individualized tolvaptan dose adjustments based on cut-off values for urinary osmolality (OsmU). Methods: This prospective cohort study included patients with ADPKD, with rapid disease progression. Tolvaptan treatment was initiated at a dose of 45/15 mg and increased based on OsmU, with a limit set at 200 mOsm/kg. Primary renal events (25% decrease in estimated glomerular filtration rate [eGFR] during treatment), within-patient eGFR slope, and side effects were monitored during the 3-year follow-up. Results: Forty patients participated in the study. OsmU remained below 200 mOsm/kg throughout the study period, and most patients required the minimum tolvaptan dose (mean dose, 64 [±10] mg), with a low discontinuation rate (5%). The mean annual decline in eGFR was -3.05 (±2.41) ml/min per 1.73 m2 during tolvaptan treatment, compared to the period preceding treatment, corresponding to a reduction in eGFR decline of more than 50%. Primary renal events occurred in 20% of patients (mean time to onset, 31 months; 95% confidence interval [CI] = 28-34). Conclusion: Individualized tolvaptan dose adjustment based on OsmU in patients with ADPKD and rapid disease progression provided benefits in terms of reducing eGFR decline, compared with reference studies, and displayed lower dropout rates and fewer side effects. Further studies are required to confirm optimal strategies for the use of OsmU for tolvaptan dose adjustment in patients with ADPKD.

5.
Eur Rev Med Pharmacol Sci ; 28(8): 3275-3286, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38708486

RESUMO

OBJECTIVE: This study aimed to compare two routes of administration and different dosages of streptozotocin (STZ) for the pharmacological induction of gestational diabetes mellitus (GDM) in pregnant CD1 females. MATERIALS AND METHODS: 35 female CD1 mice were divided into 5 groups (n = 7). Diabetes mellitus (DM) was induced with STZ by two routes and two doses: 1) Control Group without administration of STZ (CL), 2) Intraperitoneal Group with 200 mg of STZ/Kg of weight (IP200), 3) Intraperitoneal Group with 230 mg of STZ/Kg of weight (IP230), 4) Subcutaneous Group with 200 mg of STZ/Kg of weight (SC200) and 5) Subcutaneous Group with 230 mg of STZ/Kg of weight (SC230). Body weight, food and water intake, glycemia, Homeostatic Model Assessment of Insulin Resistance Index (HOMA-IR), survival, and birth rate were identified. RESULTS: The SC230 group turned out to be the most effective dose and route for the induction of GDM in pregnant females. This scheme managed to reproduce sustained hyperglycemia with high HOMA-IR, the presence of polyphagia, polydipsia, and weight loss. In addition, the birth rate and survival were high compared to the other doses and routes of administration. CONCLUSIONS: The administration of a single dose of 230 mg/kg of weight by subcutaneous route supposes advantages compared to previously used models since it decreases the physiological stress due to manipulation and the costs since it does not require repeated doses or adjuvants such as high lipid diets to potentiate the diabetogenic effect of STZ. Graphical Abstract: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-12.jpg.


Assuntos
Diabetes Mellitus Experimental , Diabetes Gestacional , Estreptozocina , Animais , Feminino , Gravidez , Camundongos , Diabetes Mellitus Experimental/induzido quimicamente , Estreptozocina/administração & dosagem , Injeções Subcutâneas , Glicemia/metabolismo , Glicemia/efeitos dos fármacos , Relação Dose-Resposta a Droga , Injeções Intraperitoneais , Resistência à Insulina , Peso Corporal/efeitos dos fármacos
6.
Radiologia (Engl Ed) ; 66 Suppl 1: S57-S60, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38642962

RESUMO

We present an uncommon case of a solitary fibrous tumor of the pleura with the appearance of an air-containing cystic mass. We discuss the differential diagnosis through the imaging findings, the hypothetical origins of the air component, and the possible relationship between the air component and the aggressivity of the tumor.


Assuntos
Cistos , Tumor Fibroso Solitário Pleural , Humanos , Tumor Fibroso Solitário Pleural/diagnóstico por imagem , Tumor Fibroso Solitário Pleural/patologia , Diagnóstico Diferencial
7.
Rev Esp Cir Ortop Traumatol ; 68(3): T280-T295, 2024.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38232929

RESUMO

BACKGROUND AND OBJECTIVES: The purpose of this study is to analyse the indications, complications, survivorship and clinical/functional outcome of metaphyseal sleeves as a treatment option in revision total knee arthroplasty. MATERIAL AND METHOD: A systematic review was made following the PRISMA recommendations on the use of metaphyseal sleeves for revision total knee arthroplasty. We included prospective and retrospective studies published in the last 10 years looking at implant survivorship, clinical and functional outcome with a minimum follow-up of 2 years. RESULTS: The included studies showed good both functional and clinical outcomes. The overall reoperation rate was 16.2%, with an overall survival rate of 92.2% and aseptic survivorship of 98.2%. CONCLUSIONS: Metaphyseal sleeves are a good treatment option for this surgery, especially in AORI II or III type bone defects, achieving good intraoperative and primary stability of the implant, with good and rapid osseointegration.

9.
Rev. Fac. Odontol. (B.Aires) ; 39(91): 9-18, 2024. ilus
Artigo em Espanhol | LILACS | ID: biblio-1554833

RESUMO

Introducción: La identificación por cotejo de regis-tros odontológicos representa una metodología científicamente consolidada. La estrategia más co-mún reside en la comparación de odontogramas impresos o digitalizados, aunque se ha cuestionado cierta subjetividad al asentar dicha información. Los recursos imagenológicos constituyen una evidencia más confiable y objetiva, reduciendo el sesgo iden-tificatorio. La obtención de radiografías post mor-tem (PM) reproduciendo en lo posible las técnicas que han generado las imágenes ante mortem (AM) recuperadas, otorga una eficaz modalidad compa-rativa, aumentando su valor probatorio. Materiales y Métodos: Se efectuó la comparación entre radio-grafías panorámicas y periapicales tomadas a 10 pacientes atendidos en un consultorio particular de la ciudad de Quilmes, Provincia de Buenos Aires, don-de se visualizaban tratamientos de endodoncia. Los registros de ambas técnicas de imágenes se realiza-ron sobre los mismos sujetos entre los años 2010 y 2022. Se cotejaron 11 radiografías periapicales y 10 panorámicas, procediéndose a la digitalización de la totalidad de la muestra. Se clasificaron las imágenes de cada persona conforme a la fecha de obtención de las mismas. A las más antiguas se las catalogó con el color verde, representando el material AM, mien-tras que las más recientes se marcaron en color rojo, constituyendo la información PM. Resultados: Teniendo en cuenta los criterios estipulados por la Junta Americana de Odontología Forense (ABFO) se identificaron positivamente 7 casos estudiados, 2 fueron catalogados como identificación posible, en tanto que 1 se clasificó como insuficiente. No se re-gistraron exclusiones. Conclusión: Los tratamientos endodónticos podrían suministrar información pon-derable en procesos de identificación humana en virtud de la escasa probabilidad de sufrir alteracio-nes morfológicas y estructurales por su estratégica localización intradentaria, otorgando posibilidades concretas de establecer la identidad categórica de sujetos desconocidos (AU)


Introduction: Identification by comparison of dental records represents a scientifically consolidated methodology. The most common strategy lies in the comparison of printed or digitised odontograms, although certain subjectivity has been questioned when recording said information. Imaging resources constitute more reliable and objective evidence, reducing identification bias. Obtaining post-mortem (PM) radiographs reproducing the techniques that have generated the recovered ante-mortem (AM) images, provides an effective comparative modality, increasing its evidentiary value. Materials and Methods: A comparison was made between panoramic and periapical radiographs taken to 10 patients treated in a private office in the city of Quilmes, Province of Buenos Aires, where endodontic treatments were visualized. The records of both imaging techniques were carried out on the same subjects between 2010 and 2022. 11 periapical and 10 panoramic radiographs were collected, and the entire sample was digitized. The images of each person were classified according to the date they were obtained. The oldest ones were cataloged with the color green, representing the AM material, while the most recent ones were marked in red, constituting the PM information. Results: Taking into account the criteria stipulated by the American Board of Forensic Odontology (ABFO), 7 cases studied were positively identified, 2 were classified as possible identification, while 1 was classified as insufficient. No exclusions were recorded. Conclusion: Endodontic treatments could provide valuable information in human identification processes due to the low probability of suffering morphological and structural alterations due to their strategic intradental location, providing concrete possibilities of establishing the categorical identity of unknown subjects (AU)


Assuntos
Humanos , Masculino , Feminino , Tratamento do Canal Radicular/estatística & dados numéricos , Radiografia Dentária/métodos , Radiografia Panorâmica/métodos , Dente não Vital/diagnóstico por imagem , Sociedades Odontológicas/normas , Técnica para Retentor Intrarradicular/estatística & dados numéricos
10.
Heliyon ; 9(11): e21793, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38027625

RESUMO

In this work, it is presented a first approach of a mathematical and kinetic analysis for improving the decoloration and further degradation process of an azo dye named acid red 27 (AR27), by means of a novel microbial consortium formed by the fungus Trametes versicolor and the bacterium Pseudomonas putida. A multivariate analysis was carried out by simulating scenarios with different operating conditions and developing a specific mathematical model based on kinetic equations describing all stages of the biological process, from microbial growth and substrate consuming to decoloration and degradation of intermediate compounds. Additionally, a sensitivity analysis was performed by using a factorial design and the Response Surface Method (RSM), for determining individual and interactive effects of variables like, initial glucose concentration, initial dye concentration and the moment in time for bacterial inoculation, on response variables assessed in terms of the minimum time for: full decoloration of AR27 (R1 = 2.375 days); maximum production of aromatic metabolites (R2 = 1.575 days); and full depletion of aromatic metabolites (R3 = 12.9 days). Using RSM the following conditions improved the biological process, being: an initial glucose concentration of 20 g l-1, an initial AR27 concentration of 0.2 g l-1 and an inoculation moment in time of P. putida at day 1. The mathematical model is a feasible tool for describing AR27 decoloration and its further degradation by the microbial consortium of T. versicolor and P. putida, this model will also work as a mathematical basis for designing novel bio-reaction systems than can operate with the same principle of the described consortium.

11.
Colorectal Dis ; 25(7): 1506-1511, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37874041

RESUMO

AIM: Perioperative bladder catheterization is a controversial issue. Most current recommendations are based on data from open surgery extrapolated to enhanced recovery after surgery or fast-track programmes ranging between 24 and 48 h. The aim of this study is to provide a rationale for reducing catheterization time while at the same time avoiding acute urine retention (AUR), in patients undergoing scheduled laparoscopic colon surgery. METHOD: This is a multicentre, prospective, controlled, randomized non-inferiority study of bladder catheter management in patients undergoing scheduled laparoscopic colon surgery, randomized into two groups: experimental (with catheter removal immediately after surgery) and control (with catheter removal 24 h post-surgery). The main outcome will be the development of AUR, and secondary outcomes the development of urinary infection within the first 30 days and hospital stay. Demographic, surgical and pathological variables will also be evaluated, especially the development of adverse effects assessed according to the Clavien scale and the Comprehensive Complication Index. Following the literature, we assume an incidence of AUR of 11% and a margin of non-inferiority (delta) of 8% and estimate that a sample size of 208 patients per group will be required (with an estimated 10% of losses per group). CONCLUSIONS: In this study we try to demonstrate that the bladder catheter can be removed immediately after scheduled laparoscopic colon surgery, without increasing acute urine retention. This measure would offers the benefits of earlier mobilization and reduces catheter-related morbidity.


Assuntos
Bexiga Urinária , Retenção Urinária , Humanos , Bexiga Urinária/cirurgia , Estudos Prospectivos , Cateterismo Urinário/efeitos adversos , Retenção Urinária/etiologia , Cateteres Urinários/efeitos adversos , Colo/cirurgia
12.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37573941

RESUMO

BACKGROUND AND OBJECTIVES: The purpose of this study is to analyze the indications, complications, survivorship and clinical/functional outcome of metaphyseal sleeves as a treatment option in revision total knee arthroplasty. MATERIAL AND METHOD: A systematic review was made following the PRISMA recommendations on the use of metaphyseal sleeves for revision total knee arthroplasty. We included prospective and retrospective studies published in the last 10 years looking at implant survivorship, clinical and functional outcome with a minimum follow-up of 2 years. RESULTS: The included studies showed good both functional and clinical outcomes. The overall reoperation rate was 16.2%, with an overall survival rate of 92.2% and aseptic survivorship of 98.2%. CONCLUSIONS: Metaphyseal sleeves are a good treatment option for this surgery, especially in AORI II or III type bone defects, achieving good intraoperative and primary stability of the implant, with good and rapid osseointegration.

13.
RSC Adv ; 13(20): 13862-13879, 2023 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-37181503

RESUMO

In this work, we present the synthesis of TiO2 photocatalysts modified with different % mol of tin using the sol-gel method. The materials were characterized using different analytical techniques. The Rietveld refinement, XPS, Raman and UV-Vis techniques confirm the substitution of tin in the TiO2 structural lattice due to changes in crystal lattice parameters, the low-energy shift of the Sn 3d5/2 orbital, generation of oxygen vacancies and the decreased band gap and increased BET surface area. The material with 1 mol% tin shows superior catalytic activity compared to the references for the degradation of 40 ppm 4-chlorophenol (3 hours of reaction) and 50 ppm phenol (6 hours of reaction). Reactions fit pseudo first order kinetics in both instances. The increase in photodegradation efficiency was attributed to the generation of energy levels below the TiO2 conduction band caused by the incorporation of 1% mol of tin, oxygen vacancies, and the heterojunction formed between the brookite-anatase-rutile, causing inhibition of the recombination of the electron (e-) and hole (h+) photogenerated species. The easy synthesis, low cost and increased photodegradation efficiency of the photocatalyst with 1 mol% tin have the potential to favor the remediation of recalcitrant compounds in water.

14.
Hipertens Riesgo Vasc ; 40(3): 107-109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37183062
15.
Hipertens Riesgo Vasc ; 40(3): 154-157, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37164809

RESUMO

Secondary arterial hypertension accounts for only 5-10% of cases of arterial hypertension, hence the importance of its clinical suspicion for diagnosis. One of the most common causes of secondary hypertension is renovascular hypertension, caused by renal hypoperfusion and activation of the renin-angiotensin-aldosterone system. In addition to arterial hypertension being one of the most prevalent cardiovascular risk factors in the population, its poor control can cause acute neurological disorders such as Posterior Reversible Leukoencephalopathy syndrome (PRES), being characteristic the appearance of visuals alterations. Next, we present the case of a kidney transplant patient with well-controlled arterial hypertension with worsening secondary to renal artery stenosis and development of PRES.

16.
Arch Soc Esp Oftalmol (Engl Ed) ; 98(5): 249-253, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36963485

RESUMO

BACKGROUND AND PURPOSE: Climate change is one of the most important threats to human health nowadays. The healthcare industry produces a significant part of greenhouse gases (GHG) emissions. The aim of this study is to assess direct and indirect GHG emissions due to cataract surgery in Spain to identify opportunities for improving. METHODS: This observational case series study estimates and analyses the carbon footprint of a single cataract surgery using phacoemulsification in Ávila Hospital. ISO standard 14064 was applied. RESULTS: The carbon footprint of a single cataract surgery in Ávila Hospital was 86.62kg CO2eq. Medical and pharmaceutical equipment were responsible for 85% of GHG emissions. CONCLUSIONS: Collaboration between pharmaceuticals and ophthalmologists is important to improve the environmental impact of cataract surgery. Future research is needed to introduce changes that do not compromise patient and surgeon safety. Green surgery models could play an encouraging role in the new global health scene.


Assuntos
Pegada de Carbono , Extração de Catarata , Catarata , Gases de Efeito Estufa , Humanos , Gases de Efeito Estufa/análise , Espanha
17.
J Nutr Health Aging ; 27(2): 89-95, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36806863

RESUMO

OBJECTIVES: Determine the association of higher FI-LAB scores, derived from common laboratory values and vital signs, with hospital and post-hospital outcomes in Veterans hospitalized with COVID-19 infection. DESIGN, SETTING, AND PARTICIPANTS: A retrospective, multicenter, cohort study of 7 Veterans Health Administration (VHA) medical centers in Florida and Puerto Rico. Patients aged 18 years and older hospitalized with COVID-19 and followed for up to 1 year post discharge or until death. Clinical Frailty Measure: FI-LAB. MAIN OUTCOMES AND MEASURES: Hospital and post-hospital outcomes. RESULTS: Of the 671 eligible patients, 615 (91.5%) patients were included (mean [SD] age, 66.1 [14.8] years; 577 men [93.8%]; median stay, 8 days [IQR:3-15]. There were sixty-one in-hospital deaths. Veterans in the moderate and high FI-LAB groups had a higher proportion of inpatient mortality (13.3% and 20.6%, respectively) than the low group (4.1%), p <0.001. Moderate and high FI-LAB scores were associated with greater inpatient mortality when compared to the low group, OR:3.22 (95%CI:1.59-6.54), p=.001 and 6.05 (95%CI:2.48-14.74), p<0.001, respectively. Compared with low FI-LAB scores, moderate and high scores were also associated with prolonged length of stay, intensive care unit (ICU) admission, and transfer. CONCLUSIONS AND RELEVANCE: In this study of patients admitted to 7 VHA Hospitals during the first surge of the pandemic, higher FI-LAB scores were associated with higher in-hospital mortality and other in-hospital outcomes; FI-LAB can serve as a validated, rapid, feasible, and objective frailty tool in hospitalized adults with COVID-19 that can aid clinical care.


Assuntos
COVID-19 , Fragilidade , Veteranos , Idoso , Masculino , Humanos , Fragilidade/diagnóstico , Idoso Fragilizado , Estudos de Coortes , Estudos Retrospectivos , Assistência ao Convalescente , Alta do Paciente , Estudos Prospectivos , Hospitais , Sinais Vitais
18.
Tech Coloproctol ; 27(9): 739-746, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36648600

RESUMO

BACKGROUND: The surgical treatment of choice for rectal neoplasia is total mesorectal excision (TME). The transanal approach enables a better approach in male and obese patients and/or those with a narrow pelvis and in patients with small tumors. Short-term results are comparable with those for laparoscopy or the open approach, but the medium- and long-term oncological data are sparse. The aim of the present study was to evaluate our early experience with transanal TME (TaTME). METHODS: This was a retrospective study conducted on patients who underwent TaTME at our center between August 2013 and April 2017 with a follow-up ≥ 3 years. Histopathology, complications, mortality, neoplastic recurrence and disease-free survival were analyzed. RESULTS: One hundred patients (68 men and 32 women,, median age 66.8 years [range 29.6-91.2 years]) were included. There were 67 T3 cases (67%) with 74 N0 cases (74%), the mesorectal quality was graded optimal for 87.6% and only 2 cases of radial margin involvement were detected (2%). The median follow-up period was 47.6 months (range 11.8-78.9 months). Eighteen cases of recurrence were diagnosed, of which 3 (3%) recurred locally with an average disease-free period of 43.1 months. Overall survival was 80% and mortality due to progression of disease was 13%. CONCLUSIONS: TaTME is a safe surgical procedure with surgical, anatomopathological and oncological results at 3 years (medium-term) comparable with those for the laparoscopic and open approaches. Better monitoring is required with studies of the long-term functional and quality of life outcomes, i.e., at 5 or 10 years.


Assuntos
Laparoscopia , Neoplasias Retais , Cirurgia Endoscópica Transanal , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Reto/cirurgia , Reto/patologia , Estudos Retrospectivos , Qualidade de Vida , Complicações Pós-Operatórias/cirurgia , Cirurgia Endoscópica Transanal/métodos , Duração da Cirurgia , Neoplasias Retais/patologia , Laparoscopia/métodos , Resultado do Tratamento
19.
J Dent Res ; 102(3): 349-356, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36437532

RESUMO

Dental occlusion requires harmonious development of teeth, jaws, and other elements of the craniofacial complex, which are regulated by environmental and genetic factors. We performed the first genome-wide association study (GWAS) on dental development (DD) using the Demirjian radiographic method. Radiographic assessments from participants of the Generation R Study (primary study population, N1 = 2,793; mean age of 9.8 y) were correlated with ~30 million genetic variants while adjusting for age, sex, and genomic principal components (proxy for population stratification). Variants associated with DD at genome-wide significant level (P < 5 × 10-8) mapped to 16q12.2 (IRX5) (lead variant rs3922616, B = 0.16; P = 2.2 × 10-8). We used Fisher's combined probability tests weighted by sample size to perform a meta-analysis (N = 14,805) combining radiographic DD at a mean age of 9.8 y from Generation R with data from a previous GWAS (N2 = 12,012) on number of teeth (NT) in infants used as proxy of DD at a mean age of 9.8 y (including the ALSPAC and NFBC1966). This GWAS meta-analysis revealed 3 novel loci mapping to 7p15.3 (IGF2BP3: P = 3.2 × 10-8), 14q13.3 (PAX9: P = 1.9 × 10-8), and 16q12.2 (IRX5: P = 1.2 × 10-9) and validated 8 previously reported NT loci. A polygenic allele score constructed from these 11 loci was associated with radiographic DD in an independent Generation R set of children (N = 703; B = 0.05, P = 0.004). Furthermore, profiling of the identified genes across an atlas of murine and human stem cells observed expression in the cells involved in the formation of bone and/or dental tissues (>0.3 frequency per kilobase of transcript per million mapped reads), likely reflecting functional specialization. Our findings provide biological insight into the polygenic architecture of the pediatric dental maturation process.


Assuntos
Estudo de Associação Genômica Ampla , Dente , Lactente , Humanos , Criança , Animais , Camundongos , Alelos , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Loci Gênicos
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