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1.
Forensic Sci Int ; 361: 112114, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38941898

RESUMEN

We present an assessment of several geospatial layers proposed as models for detecting clandestine graves in Mexico. The analyses were based on adapting the classical ROC curves to geospatial data (gROC) using the fraction of the predicted area instead of the false positive rate. Grave locations were obtained for ten Mexican states that represent the most conflicting regions in Mexico, and 30 layers were computed to represent geospatial models for grave detection. The gROC analysis confirmed that the travel time from urban streets to grave locations was the most critical variable for detecting graves, followed by nighttime light brightness and population density, whereas, contrary to the rationale, a previously proposed visibility index is less correlated with grave locations. We were also able to deduce which variables are most relevant in each state and to determine optimal thresholds for the selected variables.

2.
Br J Haematol ; 2024 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-38594876

RESUMEN

Radiotherapy (RT) has potential synergistic effects with chimeric antigen receptor (CAR) T but is not widely used as bridging therapy due to logistical challenges and lack of standardised protocols. We analysed RT bridging in a multicentre national cohort of large B-cell lymphoma patients approved for 3L axicabtagene ciloleucel or tisagenlecleucel across 12 UK centres. Of 763 approved patients, 722 were leukapheresed, 717 had data available on bridging therapy. 169/717 (24%) received RT bridging, 129 as single modality and 40 as combined modality treatment (CMT). Of 169 patients, 65.7% had advanced stage, 36.9% bulky disease, 86.5% elevated LDH, 41.7% international prognostic index (IPI) ≥3 and 15.2% double/triple hit at the time of approval. Use of RT bridging varied from 11% to 32% between centres and increased over time. Vein-to-vein time and infusion rate did not differ between bridging modalities. RT-bridged patients had favourable outcomes with 1-year progression-free survival (PFS) of 56% for single modality and 47% for CMT (1-year PFS 43% for systemic bridging). This is the largest cohort of LBCL patients receiving RT bridging prior to CAR T reported to date. Our results show that RT bridging can be safely and effectively used even in advanced stage and high-risk disease, with low dropout rates and excellent outcomes.

3.
Heart Vessels ; 39(6): 563-570, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38381171

RESUMEN

Cardiovascular diseases (CVD) are the leading cause of death globally. In recent years, follistatin-like protein 1 (FSTL1) has been proposed as an emerging potential clinical biomarker of CVD, since its concentration is upregulated in heart failure. The aim of the present study was to evaluate the association of FSTL1 levels and classic biomarkers with the risk of CVD in Mexican population. A case-control study was carried out in patients with cardiovascular diseases (CVD), arterial hypertension, but not CVD (cardiovascular risk factor-CRF), and healthy controls (control group) from the Mexican Institute of Social Security. Lipid profile, homocysteine (Hcys), serum amyloid A (SAA), FSTL1 concentration, PON1 concentration and activities [Arylesterase (ARE), and Lactonase (LAC)] were evaluated. High levels of FSTL1 were found in the CRF group and a positive association of FSTL1 (OR = 4.55; 95% CI 1.29-16.04, p = 0.02) with the presence of arterial hypertension, as well as Hcys (OR, 3.09; 95% CI 1.23-7.76, p = 0.02) and SAA (OR, 1.03; 95% CI 1.01-1.05, p < 0.01) with the presence of CVD. LAC activity (OR, 0.26; 95% CI 0.07-0.94, p = 0.04) and PON1 concentration (OR, 0.17; 95% CI 0.05-0.62, p = 0.01) were associated with a decrease in OR belonging to the group with CVD. Our results suggest that FSTL1 may be a useful biomarker for monitoring cardiovascular risk in clinical settings. However, longitudinal studies are needed to evaluate how FSTL1 could influence the association of PON1 activity and Hcys with CVD.


Asunto(s)
Biomarcadores , Enfermedades Cardiovasculares , Proteínas Relacionadas con la Folistatina , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Arildialquilfosfatasa/sangre , Biomarcadores/sangre , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/sangre , Estudios de Casos y Controles , Proteínas Relacionadas con la Folistatina/sangre , Hipertensión/epidemiología , Hipertensión/sangre , Hipertensión/diagnóstico , México/epidemiología , Medición de Riesgo/métodos , Factores de Riesgo
4.
Br J Haematol ; 204(2): 507-513, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-37848384

RESUMEN

The success of CD19 Chimeric antigen receptor (CAR) T-cell therapy in large B-cell lymphoma (LBCL) has been partially offset by toxicity and logistical challenges, which off-the-shelf agents like CD20xCD3 bispecific antibodies might potentially overcome. However, when using CAR T outcomes as the 'standard-of-care comparator̕ for relapsed/refractory (r/r) LBCL, a potential learning curve with implementing a novel, complex therapy like CAR T needs to be considered. To address this, we analysed 726 UK patients intended to be treated with CD19 CAR T for r/r LBCL and compared outcomes between the first year of the national CAR T programme (Era 1; 2019) and the more recent treatment era (Era 2; 2020-2022). We identified significant improvements for Era 2 versus Era 1 in dropout rate (17% vs. 27%, p = 0.001), progression-free survival (1-year PFS 50% vs. 32%, p < 0.001) and overall survival (1-year OS 60% vs. 40%, p < 0.001). We also observed increased use of bridging therapy, improvement in bridging outcomes, more tocilizumab/corticosteroid use, reduced high-grade cytokine release syndrome (4% vs. 9%, p = 0.01) and intensive care unit admissions (20% vs. 32%, p = 0.001). Our results demonstrate significant improvement in CAR T outcomes over time, highlighting the importance of using up-to-date clinical data when comparing CAR T against new treatment options for r/r LBCL.


Asunto(s)
Anticuerpos Biespecíficos , Linfoma de Células B Grandes Difuso , Receptores Quiméricos de Antígenos , Humanos , Proteínas Adaptadoras Transductoras de Señales , Antígenos CD19 , Inmunoterapia Adoptiva , Reino Unido
5.
J. inborn errors metab. screen ; 12: e20230011, 2024. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1534790

RESUMEN

Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adherence declines as age advances. The aim was to describe the diet of a subgroup of Chilean adults with PKU currently in follow-up. Fifty-three subjects (49% women) followed up between January 2021 to April 2023 were considered. The concentration of Phe (PheC) in dried blood spots measured by fluorometry and 24-hour dietary recalls were analyzed. The median PheC of the sample was 438µmol/L (interquartile range(IQR):351-585µmol/L). A protein intake of 1.35±0.3 gr/Kg/d was observed of which 87% came from the protein substitute without Phe. Participants had a median Phe intake of 459mg/d (IQR:327-976) and 13.1g/d of fiber intake. Most participants, 51% and 92% reported consuming fruits and vegetables, respectively, and 32% consumed Low-Protein foods. Regarding micronutrients, all participants exceeded 90% adequacy according to recommendations. For vitamin-D and vitamin-B12, 100% is provided by the protein substitute. According to our results, it is mandatory to establish transition programs toward adulthood, to constantly maintain good metabolic control, and to adapt diet therapy to their new lifestyle.

6.
Public Health Action ; 13(2 Suppl 1): 19-24, 2023 Aug 01.
Artículo en Francés | MEDLINE | ID: mdl-37529554

RESUMEN

CONTEXT: A unit supported by Médecins Sans Frontières (MSF) cares for patients with advanced HIV at Donka National Hospital, Conakry, Guinea. OBJECTIVE: To determine the factors associated with the occurrence of death in patients hospitalised in the unit between 2017 and 2021. DESIGN: This was a retrospective analysis of routine data from patients hospitalised with advanced HIV. RESULTS: A total of 3,718 patients were included, with a median age of 40 years (IQR 33-51), of whom 2,241 (60.3%) were women. The mean mortality rate was 33.6% (n = 1,240), down from 40% in 2017 to 29% in 2021, but this was not statistically significant. The period most at risk of death was the first 25 days of hospitalisation. Among these patients, TB (43.8%) and toxoplasmosis (11.4%) were the most frequent diagnoses. After multivariate analysis using Cox regression, the factors associated with death were age 25-49 years (adjusted hazard ratio [aHR] 1.60; P = 0.002) or ≥50 years (aHR 1.80; P < 0.001), the presence of respiratory (aHR 1.23; P = 0.001) or abdominal symptoms (aHR 1.26; P < 0.001) and readmission (aHR 0.54; P < 0.001). CONCLUSION: Patients aged 25-49 years or older, or those presenting with respiratory or abdominal signs require increased surveillance, as they are at the greatest risk of dying from the disease, especially during the first 25 days of hospitalisation.

7.
Br J Haematol ; 202(1): 65-73, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37082780

RESUMEN

Large B-cell lymphoma (LBCL) patients with comorbidities and/or advanced age are increasingly considered for treatment with CD19 CAR T, but data on the clinical benefit of CAR T in the less fit patient population are still limited. We analysed outcomes of consecutive patients approved for treatment with axicabtagene ciloleucel (axi-cel) or tisagenlecleucel (tisa-cel) by the UK National CAR T Clinical Panel, according to fitness for autologous stem cell transplant (ASCT). 81/404 (20%) of approved patients were deemed unfit for ASCT. Unfit patients were more likely to receive tisa-cel versus axi-cel (52% vs. 48%) compared to 20% versus 80% in ASCT-fit patients; p < 0.0001. The drop-out rate from approval to infusion was significantly higher in the ASCT-unfit group (34.6% vs. 23.5%; p = 0.042). Among infused patients, response rate, progression-free and overall survival were similar in both cohorts. CAR T was well-tolerated in ASCT-unfit patients with an incidence of grade ≥3 cytokine release syndrome and neurotoxicity of 2% and 11%, respectively. Results from this multicentre real-world cohort demonstrate that CD19 CAR T can be safely delivered in carefully selected older patients and patients with comorbidities who are not deemed suitable for transplant.


Asunto(s)
Linfoma de Células B Grandes Difuso , Receptores Quiméricos de Antígenos , Trasplantes , Humanos , Autoinjertos , Trasplante Autólogo , Proteínas Adaptadoras Transductoras de Señales , Antígenos CD19 , Síndrome de Liberación de Citoquinas , Linfoma de Células B Grandes Difuso/terapia , Inmunoterapia Adoptiva/efectos adversos
8.
Nat Commun ; 13(1): 5568, 2022 10 04.
Artículo en Inglés | MEDLINE | ID: mdl-36195604

RESUMEN

Plastic degradation by biological systems with re-utilization of the by-products could be a future solution to the global threat of plastic waste accumulation. Here, we report that the saliva of Galleria mellonella larvae (wax worms) is capable of oxidizing and depolymerizing polyethylene (PE), one of the most produced and sturdy polyolefin-derived plastics. This effect is achieved after a few hours' exposure at room temperature under physiological conditions (neutral pH). The wax worm saliva can overcome the bottleneck step in PE biodegradation, namely the initial oxidation step. Within the saliva, we identify two enzymes, belonging to the phenol oxidase family, that can reproduce the same effect. To the best of our knowledge, these enzymes are the first animal enzymes with this capability, opening the way to potential solutions for plastic waste management through bio-recycling/up-cycling.


Asunto(s)
Mariposas Nocturnas , Polietileno , Animales , Biodegradación Ambiental , Monofenol Monooxigenasa/metabolismo , Mariposas Nocturnas/metabolismo , Plásticos/metabolismo , Polietileno/metabolismo , Saliva/metabolismo
9.
mSystems ; 7(5): e0047622, 2022 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-36036505

RESUMEN

Noncarbapenemase-producing carbapenem-resistant Enterobacterales (non-CP-CRE) are increasingly recognized as important contributors to prevalent carbapenem-resistant Enterobacterales (CRE) infections. However, there is limited understanding of mechanisms underlying non-CP-CRE causing invasive disease. Long- and short-read whole-genome sequencing was used to elucidate carbapenem nonsusceptibility determinants in Enterobacterales bloodstream isolates at MD Anderson Cancer Center in Houston, Texas. We investigated carbapenem nonsusceptible Enterobacterales (CNSE) mechanisms (i.e., isolates with carbapenem intermediate resistance phenotypes or greater) through a combination of phylogenetic analysis, antimicrobial resistance gene detection/copy number quantification, porin assessment, and mobile genetic element (MGE) characterization. Most CNSE isolates sequenced were non-CP-CRE (41/79; 51.9%), whereas 25.3% (20/79) were Enterobacterales with intermediate susceptibility to carbapenems (CIE), and 22.8% (18/79) were carbapenemase-producing Enterobacterales (CPE). Statistically significant copy number variants (CNVs) of extended-spectrum ß-lactamase (ESBL) genes (Wilcoxon Test; P-value < 0.001) were present in both non-CP-CR E. coli (median CNV = 2.6×; n = 17) and K. pneumoniae (median CNV = 3.2×, n = 17). All non-CP-CR E. coli and K. pneumoniae had predicted reduced expression of at least one outer membrane porin gene (i.e., ompC/ompF or ompK36/ompK35). Completely resolved CNSE genomes revealed that IS26 and ISEcp1 structures harboring blaCTX-M variants along with other antimicrobial resistance elements were associated with gene amplification, occurring in mostly IncFIB/IncFII plasmid contexts. MGE-mediated ß-lactamase gene amplifications resulted in either tandem arrays, primarily mediated by IS26 translocatable units, or segmental duplication, typically due to ISEcp1 transposition units. Non-CP-CRE strains were the most common cause of CRE bacteremia with carbapenem nonsusceptibility driven by concurrent porin loss and MGE-mediated amplification of blaCTX-M genes. IMPORTANCE Carbapenem-resistant Enterobacterales (CRE) are considered urgent antimicrobial resistance (AMR) threats. The vast majority of CRE research has focused on carbapenemase-producing Enterobacterales (CPE) even though noncarbapenemase-producing CRE (non-CP-CRE) comprise 50% or more of isolates in some surveillance studies. Thus, carbapenem resistance mechanisms in non-CP-CRE remain poorly characterized. To address this problem, we applied a combination of short- and long-read sequencing technologies to a cohort of CRE bacteremia isolates and used these data to unravel complex mobile genetic element structures mediating ß-lactamase gene amplification. By generating complete genomes of 65 carbapenem nonsusceptible Enterobacterales (CNSE) covering a genetically diverse array of isolates, our findings both generate novel insights into how non-CP-CRE overcome carbapenem treatments and provide researchers scaffolds for characterization of their own non-CP-CRE isolates. Improved recognition of mechanisms driving development of non-CP-CRE could assist with design and implementation of future strategies to mitigate the impact of these increasingly recognized AMR pathogens.


Asunto(s)
Bacteriemia , Sepsis , Humanos , Carbapenémicos/farmacología , Antibacterianos/farmacología , Escherichia coli/genética , Amplificación de Genes , Filogenia , beta-Lactamasas/genética , Klebsiella pneumoniae/genética , Sepsis/genética , Bacteriemia/tratamiento farmacológico , Porinas/genética , Secuencias Repetitivas Esparcidas
10.
Tree Physiol ; 42(10): 2086-2099, 2022 10 07.
Artículo en Inglés | MEDLINE | ID: mdl-35708521

RESUMEN

One century after the first report of Dutch elm disease (DED), there is still no practical solution for this problem threatening European and American elms (Ulmus spp.). The long breeding cycles needed to select resistant genotypes and the lack of efficient treatments keep disease incidence at high levels. In this work, the expression of defense-related genes to the causal agent of DED, Ophiostoma novo-ulmi Brasier, was analyzed in in vitro clonal plantlets from two DED-resistant and two DED-susceptible Ulmus minor Mill. trees. In addition, the effect of the inoculation of an endophytic pink-pigmented yeast (Cystobasidium sp.) on the plant's defense system was tested both individually and in combination with O. novo-ulmi. The multifactorial nature of the resistance to DED was confirmed, as no common molecular response was found in the two resistant genotypes. However, the in vitro experimental system allowed discrimination of the susceptible from the resistant genotypes, showing higher levels of oxidative damage and phenolic compounds in the susceptible genotypes after pathogen inoculation. Inoculation of the endophyte before O. novo-ulmi attenuated the plant molecular response induced by the pathogen and moderated oxidative stress levels. Niche competition, endophyte-pathogen antagonism and molecular crosstalk between the host and the endophyte are discussed as possible mechanisms of stress reduction. In sum, our results confirm the complex and heterogeneous nature of DED resistance mechanisms and highlight the possibility of using certain endophytic yeasts as biological tools to improve tree resilience against biotic stress.


Asunto(s)
Ulmus , Endófitos , Enfermedades de las Plantas , Saccharomyces cerevisiae , Árboles , Ulmus/fisiología
11.
BMC Cancer ; 22(1): 146, 2022 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-35123435

RESUMEN

BACKGROUND: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors. METHODS: Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility. RESULTS: Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor. CONCLUSIONS: This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.


Asunto(s)
Proteínas Relacionadas con la Autofagia/genética , Neoplasias Encefálicas/genética , Predisposición Genética a la Enfermedad/genética , Glioblastoma/genética , Polimorfismo Genético/genética , Adulto , Anciano , Autofagia/genética , Proteína 5 Relacionada con la Autofagia/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteína Adaptadora de Señalización NOD2/genética , España , Proteínas de Transporte Vesicular/genética , Adulto Joven
12.
Int J Environ Health Res ; 32(10): 2271-2285, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34348544

RESUMEN

Mycotoxins have several toxicological implications. In the present study, we evaluate the presence of aflatoxin B1 (AFB1), ochratoxin A (OTA), and fumonisin (FB1) in paddy rice, polished rice, and maize from the fields and markets in Nayarit State (Mexico). The results indicated the presence of AFB1 in 21.21% of paddy rice samples and 11.11% of market maize samples. OTA was present in only 3.03% (one sample) of paddy rice samples. FB1 was detected in 87.50% and 88.88% of maize samples from field and market, respectively. The estimated human exposure was calculated for FB1 using the probable daily intake (PDI), which suggested that FB1 could contribute to the development of diseases through the consumption of contaminated maize. Positive samples indicated that some rice and maize samples were not suitable for human consumption. Further efforts are needed to continue monitoring mycotoxins and update national legislation on mycotoxins accordingly.


Asunto(s)
Fumonisinas , Micotoxinas , Oryza , Aflatoxina B1/análisis , Grano Comestible/química , Contaminación de Alimentos/análisis , Fumonisinas/análisis , Humanos , México , Micotoxinas/análisis , Zea mays
13.
Sci Total Environ ; 810: 152376, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-34915004

RESUMEN

Different wetland plants were evaluated regarding their potential to be used in further green biorefining platforms to produce soluble protein and cellulose-textile fibers. The results show a higher protein content in the plants grown in treatment wetland conditions, compared with the same species grown in natural conditions, and diverse effect on the content of cellulose, hemicellulose, and lignin, depending on the plant species, more than the growing environment. The TW biomass did not represent a risk regarding accumulation of heavy metals, named Pb, Cd, and Cr, since the studied plants did not present it in their tissues, neither in the roots nor in the leaves. The results regarding cellulose quality of the TW plants showed positive results, having values of molar mass distributions and degrees of polymerization that suggest a suitability to be considered for cellulose-fiber textiles studies. This is one of the first approaches, in the TW field, to establish a new criterion for selecting plant species to be planted in the system, aiming at recovering resources and use them as inputs for biorefineries and sustainable biobased products.


Asunto(s)
Metales Pesados , Humedales , Biomasa , Celulosa , Plantas
14.
Rev. argent. cir. plást ; 27(1): 21-24, jan.-mar. 2021. ilus
Artículo en Español | LILACS | ID: biblio-1223520

RESUMEN

Introducción. La hipertrofia de los labios menores se define como tejido labial que sobresale más allá de los labios mayores, puede afectar de manera uni- o bilateral y resultar en dispareunia, interferencia con los deportes, dificultades con la limpieza, irritación e infecciones crónicas del tracto urinario, incomodidad para el uso de prendas ajustadas, además de trastornos psicológicos. Todos estos motivos llevan a las mujeres a la consulta. La reducción de labios menores es el procedimiento estético genital femenino más común. Este trabajo tiene como objetivo presentar técnicas de baja complejidad para resolver diferentes grados de hipertrofia de labios menores. Materiales y métodos. Estudio retrospectivo, observacional que comprendió 3 pacientes entre el periodo de marzo del 2019 a febrero 2020 que Incluyó a pacientes con hipertrofias leves y moderadas. Resultados. En 2 pacientes se realizó escisión directa y en 1, técnica del desepitelizado más lipotransferencia de labios mayores, sin evidenciar complicaciones mayores. Discusión. Si bien en la literatura se han reportado un gran número de técnicas quirúrgicas, cada una de ellas debe adecuarse al tipo de hipertrofia labial. La técnica del desepitelizado permite conservar un borde natural, con conservación de la coloración y textura original de la paciente, aporte neurovascular, pero no es conveniente utilizarla en pacientes de grados mayores de hipertrofia. La escisión directa proporciona una técnica simple para la escisión del exceso de tejido en pacientes con mayor tamaño de sus labios menores, pero elimina el contorno, la coloración y la textura naturales del borde libre, aun así, las pacientes resultan conformes con su nuevo aspecto. Conclusión. La reconstrucción de los labios menores, utilizando las técnicas de desepitelización y escisión directa, es confiable y da un resultado cosmético y funcional exitoso. Estas técnicas son de baja complejidad, tiempo operatorio breve, técnicamente reproducibles, dando gran conformidad y resultando un método seguro


Introduction. Hypertrophy of the labia minora is defined as lip tissue that protrudes beyond the labia majora, can affect unilaterally or bilaterally and result in dyspareunia, interference with sports, difficulties with cleaning, irritation and chronic infections of the urinal tract, discomfort for wearing tight clothes, in addition to psychological disorders. All these reasons lead women to the consultation. Labia minora reduction is the most common female genital cosmetic procedure. This work aims to present low complexity techniques to resolve different degrees of hypertrophy of the labia minora. Materials and methods: retrospective, observational study that comprised 3 patients between the period of March 2019 to February 2020 that included patients with mild and moderate hypertrophy. Results: Direct excision was performed in 2 patients and in 1, de-epithelialization technique plus lipotransference of the labia majora. Without showing major complications. Discussion: Although a large number of surgical techniques have been reported in the literature, each of them must be adapted to the type of lip hypertrophy. The de-epithelialization technique allows a natural border to be preserved, with preservation of the patient's original color and texture, neurovascular supply, but it is not convenient to use it in patients with higher degrees of hypertrophy. Direct excision provides a simple technique for excision of excess tissue in patients with larger labia minora, but removes the natural contour, coloration and texture of the free edge, yet patients are still satisfied with their new appearance. Conclusion. The reconstruction of the labia minora, using de-epithelialization and direct excision techniques is reliable and gives a successful cosmetic and functional result. These are low complexity techniques, short operating time, technically reproducible, giving great conformity and resulting in a safe method


Asunto(s)
Humanos , Femenino , Procedimientos Quirúrgicos Operativos/métodos , Vulva/patología , Estudios Retrospectivos , Hipertrofia/patología
15.
J. inborn errors metab. screen ; 9: e20210004, 2021. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1287009

RESUMEN

Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value<0,05). Significant differences were detected in concentrations of 25-OHD between G1-PKU and G2-HPA (38.9 ng/mL; 28 ng/mL, respectively) (NV: >30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.

16.
J. inborn errors metab. screen ; 9: e20210003, 2021. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1287015

RESUMEN

Abstract Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive cross-sectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 - 636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: - 0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.

17.
Rev. argent. mastología ; 39(143): 29-47, sept. 2020. graf, tab
Artículo en Español | LILACS, BINACIS | ID: biblio-1120617

RESUMEN

Introducción La quimioterapia neoadyuvante (QTn) es una herramienta de uso cada vez más frecuente en el tratamiento del cáncer de mama. su repercusión es objetivada a partir de parámetros clínicos (examen físico y estudios por imagen) y parámetros anatomo-patológicos sobre la pieza quirúrgica. Existe variabilidad en el impacto de la Qt según el subtipo molecular. Este estudio evalúa el grado de respuesta (clínica y patológica) a la QTn de las pacientes con cáncer de mama subtipo luminal y la tasa de cirugías conservadoras en este subgrupo. Objetivo Describir la tasa de respuesta clínica y patológica obtenida en el subgrupo de pacientes luminales y evaluar la tasa de conversión a cirugía conservadora luego del tratamiento neoadyuvante. Material y método Se analizaron 220 historias clínicas pertenecientes a pacientes que realizaron neoadyuvancia en el periodo 2014-2017 en el Servicio de Patología Mamaria del Hospital Oncológico Marie Curie. Se incluyeron 78 pacientes con diagnóstico de carcinoma invasor subtipo luminal A y B, Her 2 negativas. Se evaluó la tasa de respuesta clínica, patológica y la tasa de cirugía conservadora. Resultados Se clasificaron como Luminal A el 26.9% (n=21) de las 78 pacientes, y Luminal B el 73.1% (n=57). La distribución por tamaño tumoral fue: T1 en el 1.25% (n= 1); T2 en 46.1% (n= 36); T3 en 37.2% (n=29) y T4 en el 15.4% (n=12) de los casos. No presentaban compromiso axilar (N0) el 24.3% de las pacientes (n=19), y se vio afectación ganglionar el 75.5 % (n= 59). El Estadio clínico más frecuente fue el III A (32% = 25 pacientes). El 60.3% (47 pacientes) de los casos tenía indicación de mastectomía de inicio y el 39.7% (41 pacientes) eran candidatas a cirugía conservadora. Posterior a la quimioterapia, se indicaron cirugías conservadoras en el 52.6 % (n=41) y mastectomía en el 47.4% (n=37), con una tasa de conversión a cirugía conservadora del 24.4%. La respuesta clínica completa fue del 28.2% (n=22) y la respuesta patológica completa del 16.6%. Conclusión Se observó una respuesta clínica y patológica acorde a la experiencia de otros centros, sobre todo en el subtipo luminal B, con una alta tasa de conversión a cirugía conservadora del 24.4%. Esto nos permite considerar la quimioterapia neoadyuvante como una opción de tratamiento válida para aquellas pacientes con cáncer de mama subtipo luminal B- Her 2 negativa.


Introduction Neoadjuvant chemotherapy (QTn) is a tool that is increasingly used in the treatment of breast cancer. its repercussion is objectified based on clinical parameters (physical examination and imaging studies) and anatomo-pathological parameters on the surgical specimen. There is variability in the impact of Qt according to the molecular subtype. This study evaluates the degree of response (clinical and pathological) to the QTn of patients with luminal subtype breast cancer and the rate of conservative surgeries in this subgroup. Objective To describe the clinical and pathological response rate in the subgroup of luminous patients and to evaluate the conversion rate in a conservative surgery after neoadjuvant treatment. Material and method We will analyze 220 clinical records belonging to patients that developed during the 2014-2017 period in the Breast Pathology Service of the Marie Curie Oncology Hospital. We included 78 patients with a diagnosis of invasive carcinoma luminal subtype A and B, their 2 negative. The clinical and pathological response rate and the rate of conservative surgery in each group were evaluated. Results Luminal A was classified as 26.9% (n = 21) of the 78 patients, and Luminal B was 73.1% (n = 57). The distribution by tumor size was: T1 at 1.25% (n = 1); T2 at 46.1% (n = 36); T3 in 37.2% (n = 29) and T4 in 15.4% (n = 12) of the cases. There is no axillary involvement (N0) in 24.3% of the patients (n = 19), and the ganglion was affected 75.5% (n = 59). The most frequent clinical stage was III A (32% = 25 patients). Sixty-three percent (47 patients) of the cases had an initial mastectomy indication and 39.7% (41 patients) were candidates for conservative surgery. After chemotherapy, conservative surgeries were indicated in 52.6% (n = 41) and mastectomy in 47.4% (n = 37), with a conversion rate to conservative surgery of 24.4%. The complete clinical response was 28.2% (n = 22) and the complete pathological response was 16.6%. Conclusion A clinical and pathological response was observed according to the experience of other centers, especially in luminal subtype B, with a high conversion rate to conservative surgery of 24.4%. This allows us to consider neoadjuvant chemotherapy as a valid treatment option for those patients with luminal B-Her 2 negative breast cancer.


Asunto(s)
Humanos , Femenino , Neoplasias de la Mama , Terapia Neoadyuvante , Quimioterapia
18.
Exp Gerontol ; 140: 111062, 2020 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-32827712

RESUMEN

BACKGROUND: Cardiovascular disease (CVD) is the leading cause of death. The mainly risks factors for CVD are diabetes, hypertension and high levels of homocysteine (Hcys), among others. Paraoxonase 1 (PON1) has been proposed as an antiatherogenic target for its ability to hydrolyzing oxi-Low-Density-Lipoproteins (LDL) and Hcys-thiolactone. Thus, the aim of the present study was to evaluate the association of Hcys levels, and the activities and concentration of PON1, as well as vitamin B from the diet with a risk for CVD. METHODS: A case-control study was carry out in patients with cardiovascular diseases (CVD), Arterial hypertension, but not CVD (AH), and in healthy controls (control group) from the Mexican Institute of Social Security. Lipid profile, intake of vitamin B, Hcys, serum amyloid A (SAA), PON1 concentration, and PON1 activities (Arylesterase activity (ARE), Lactonase activity (LAC), and CMPA activity (CMPA)) were evaluated. RESULTS: The CVD group had the highest concentration of Hcys and SAA than in the AH and control groups (p < 0.01). ARE, LAC, and CMPA activities and PON1 concentration were lowest in the CVD group. A positive-independent association between Hcys levels and CVD was found (OR = 2.09; 95% CI: 1.69-2.56) and this increase when it was adjusted by age, BMI, ApoA1, vitamin B intake, SAA, and PON1 (OR = 14.41; 95% CI: 1.75-118.71). LAC and CMPA, as well as PON1 concentration, were inversely associated with CVD. CONCLUSION: LAC activity, PON1 concentration, and Hcys levels might be good biomarkers for CVD and their association could be modified by the intake of vitamin B.


Asunto(s)
Arildialquilfosfatasa , Enfermedades Cardiovasculares , Biomarcadores , Estudios de Casos y Controles , Homocisteína , Humanos , México
20.
Neotrop Entomol ; 49(1): 61, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31916202

RESUMEN

In order to properly acknowledge the institute at which the research was performed, the affiliations of the authors should have been stated in full in the original publication.

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