The ultimate goal of a preimplantation genetic testing and human leukocyte antigen (PGT-HLA) matching programme is the birth of a healthy, HLA-compatible child for the treatment or cure of a sick ...sibling. Several authors have published successful cases of the births of children HLA-matched to siblings affected by different conditions and diseases. However, there are many reports of failed attempts. Couples seeking an HLA-matched sibling for their affected child look for positive outcomes in the shortest possible time. Nevertheless, there is no published consensus or guidelines with recommendations for these cases. Here, the authors aimed to analyse different approaches for these programmes, highlighting the most promising strategies for the families and fertility units. Furthermore, the authors mention a successful case of a PGT-HLA matching programme after a previous failed attempt following the strategies proposed. Which is the most cost-effective and time-efficient approach in a PGT-HLA matching programme?
Abstract Human hands have a complex anatomical structure. The thumb, being an integral part of the hand, has an essential function in gripping. In this sense, thumb fractures account for 4% of all ...hand fractures (it may occur in association with fractures of the trapezium). The majority of hand fractures should be treated non-surgically and surgeons must avoid unnecessary surgery. Historically, hand surgery has used a combination of local/regional/general anaesthesia and a tourniquet. This study aims to carry out a systematic review to determine whether the WALANT technique is an advantageous alternative to conventional anaesthesia for surgical procedures on thumb injuries, in terms of patient function and pain. Method: We conducted a search in the following databases: Pubmed/Medline, EBSCOhost, Web of Science, Scopus, ScienceDirect and Google Scholar, using the equation "WALANT" OR "Wide Awake Local Anesthesia No Tourniquet" AND "thumb pathology". Results: In five of the 584 articles included, two studied trapeziometacarpal osteoarthritis, one De Quervain's disease and the remaining two flexor injuries. WALANT showed good results in active movements, but with similar levels of pain between anaesthetics. Patients were more anxious during general anaesthesia, plus the fact that they were fasting and suspending medication. Conclusion: WALANT is a convenient and favourable option in several studies. It has been demonstrated the benefits in terms of return to function and pain.
Objective
Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date, several shared SSc–RA genetic loci have ...been identified independently. The aim of the current study was to systematically search for new common SSc–RA loci through an interdisease meta–genome‐wide association (meta‐GWAS) strategy.
Methods
The study was designed as a meta‐analysis combining GWAS data sets of patients with SSc and patients with RA, using a strategy that allowed identification of loci with both same‐direction and opposite‐direction allelic effects. The top single‐nucleotide polymorphisms were followed up in independent SSc and RA case–control cohorts. This allowed an increase in the sample size to a total of 8,830 patients with SSc, 16,870 patients with RA, and 43,393 healthy controls.
Results
This cross‐disease meta‐analysis of the GWAS data sets identified several loci with nominal association signals (P < 5 × 10−6) that also showed evidence of association in the disease‐specific GWAS scans. These loci included several genomic regions not previously reported as shared loci, as well as several risk factors that were previously found to be associated with both diseases. Follow‐up analyses of the putatively new SSc–RA loci identified IRF4 as a shared risk factor for these 2 diseases (Pcombined = 3.29 × 10−12). Analysis of the biologic relevance of the known SSc–RA shared loci identified the type I interferon and interleukin‐12 signaling pathways as the main common etiologic factors.
Conclusion
This study identified a novel shared locus, IRF4, for the risk of SSc and RA, and highlighted the usefulness of a cross‐disease GWAS meta‐analysis strategy in the identification of common risk loci.
In chronic kidney disease (CKD) patients, increased levels of fibroblast growth factor 23 (FGF23) are associated with cardiovascular mortality. The relationship between FGF23 and heart hypertrophy ...has been documented, however, it is not known whether FGF23 has an effect on vasculature. Vascular smooth muscle cells VSMCs may exhibit different phenotypes; our hypothesis is that FGF23 favours a switch from a contractile to synthetic phenotype that may cause vascular dysfunction. Our objective was to determine whether FGF23 may directly control a change in VSMC phenotype.
This study includes in vitro, in vivo and ex vivo experiments and evaluation of patients with CKD stages 2-3 studying a relationship between FGF23 and vascular dysfunction.
In vitro studies show that high levels of FGF23, by acting on its specific receptor FGFR1 and Erk1/2, causes a change in the phenotype of VSMCs from contractile to synthetic. This change is mediated by a downregulation of miR-221/222, which augments the expression of MAP3K2 and PAK1. miR-221/222 transfections recovered the contractile phenotype of VSMCs. Infusion of recombinant FGF23 to rats increased vascular wall thickness, with VSMCs showing a synthetic phenotype with a reduction of miR-221 expression. Ex-vivo studies on aortic rings demonstrate also that high FGF23 increases arterial stiffening. In CKD 2-3 patients, elevation of FGF23 was associated with increased pulse wave velocity and reduced plasma levels of miR-221/222.
In VSMCs, high levels of FGF23, through the downregulation of miR-221/222, causes a change to a synthetic phenotype. This change in VSMCs increases arterial stiffening and impairs vascular function, which might ultimately worsen cardiovascular disease.
The progression of chronic kidney disease (CKD) involves the development of alterations in mineral metabolism that are closely related to cardiovascular outcomes and bone disease. Hypomagnesemia is ...associated with more rapid progression of CKD and other comorbidities. Our objective was to analyze in CKD patients stages 3–4 the impact of the administration of magnesium (Mg) carbonate on bone mineral density (BMD) and hemodynamic changes associated with by vascular calcification (VC).
Patients with CKD stages 3–4 were randomized into controls (n=12) or intervention (n=7) group receiving 360mg of Mg carbonate daily during a 15-month period. Parameters related to mineral metabolism, BMD, VC, and pulse wave velocity (PWV) were evaluated.
Supplementation with Mg produced an increase in the urinary excretion of Mg while serum Mg levels remained stable and no episodes of hypermagnesemia were reported. In addition, no significant changes were found in the degree of VC assessed by Adragao index, however, both serum and urine Mg were significantly associated with a decrease in PWV, suggesting an increase in vascular compliance. Likewise, BMD did not change following treatment, but serum Mg significantly correlated with the levels of N-terminal propeptide of collagen alpha-1(I) chain (PINP), a marker of bone synthesis.
In sum, these results suggest a possible beneficial effect of Mg on vascular compliance with no detrimental effects on bone status. In addition, our results highlight the need to consider monitorization of urinary Mg status in CKD patients.
La progresión de la enfermedad renal crónica (ERC) supone el desarrollo de alteraciones del metabolismo mineral que están estrechamente relacionadas con eventos cardiovasculares y enfermedad ósea. La hipomagnesemia se asocia con una progresión más rápida de la ERC, así como con otras comorbilidades. Nuestro objetivo fue analizar en pacientes con ERC estadios 3-4 el impacto de la administración de carbonato de magnesio (Mg) sobre la densidad mineral ósea (DMO) y los cambios hemodinámicos asociados a la calcificación vascular (CV).
Los pacientes con enfermedad renal crónica estadios 3-4 se distribuyeron aleatoriamente en los grupos control (n=12) o intervención (n=7), que recibió 360 mg de carbonato de Mg diariamente durante un periodo de 15 meses. Se evaluaron parámetros relacionados con el metabolismo mineral además de la DMO, CV, y velocidad de onda de pulso (VOP).
La suplementación con Mg produjo un aumento en la excreción urinaria de Mg, mientras que los niveles séricos de Mg permanecieron estables y no se reportaron episodios de hipermagnesemia. Además, no se observaron cambios significativos en cuanto al grado de CV valorado en base al índice de Adragao. No obstante, tanto los niveles séricos como urinarios de Mg se asociaron significativamente con un descenso en la VOP, lo que sugiere un aumento en la distensibilidad vascular. De manera similar, la DMO no se modificó con la administración del tratamiento, pero los niveles séricos de Mg correlacionaron significativamente con los del propétido N-terminal del colágeno tipo I (PINP), un marcador de la síntesis ósea.
En conjunto, estos resultados sugieren un posible efecto beneficioso del Mg sobre la distensibilidad vascular sin efectos negativos a nivel óseo. Además, nuestros resultados subrayan la necesidad de considerar la monitorización del nivel de Mg urinario en pacientes con ERC.
TC-325 (Hemospray, Cook Medical, Winston-Salem, NC) is an inorganic hemostatic powder recently approved by the U.S. Food and Drug Administration. This study aimed to examine the effectiveness, ...safety, and predictors of TC-325 failure in a large real-life cohort.
This was a retrospective study conducted at 21 Spanish centers. All patients treated with TC-325 until September 2018 were included. The primary outcome was treatment failure, defined as failed intraprocedural hemostasis or recurrent bleeding within the first 30 postprocedural days. Secondary outcomes included safety and survival. Risk and predictors of failure were assessed via competing-risk models.
The cohort comprised 261 patients, of whom 219 (83.9%) presented with upper gastrointestinal bleeding (GIB). The most common causes were peptic ulcer (28%), malignancy (18.4%), and therapeutic endoscopy-related GIB (17.6%). TC-325 was used as rescue therapy in 191 (73.2%) patients. The rate of intraprocedural hemostasis was 93.5% (95% confidence interval CI, 90%-96%). Risks of TC-325 failure at postprocedural days 3, 7, and 30 were 21.1%, 24.6%, and 27.4%, respectively. On multivariate analysis, spurting bleeding (P = .004), use of vasoactive drugs (P = .02), and hypotension (P = .008) were independent predictors of failure. Overall 30-day survival was 81.9% (95% CI, 76%-86%) and intraprocedural hemostasis was associated with a better prognosis (adjusted hazard ratio, 0.29; P = .006). Two severe adverse events were noted.
TC-325 was safe and effective for intraprocedural hemostasis in more than 90% of patients, regardless of the cause or site of bleeding and its use as rescue therapy. In this high-risk cohort treated with TC-325, the 30-day failure rate exceeded 25% and was highest with spurting bleeding or hemodynamic instability.
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There are 61 (9%) female urologist enrolled at Sociedad Colombiana de Urología. 41 (40%) of urology residentes in Colombia are women. The aim of this study is to demonstrate the work tendencies of ...female urologist, female residents and patient's preferences regarding the gender of their urologist. MATERIALS AND METHODS: Descriptive observational sectional study with anonymous surveys carried out to practicing female urologists, female residents, and patients. The questions evaluated the demographic characteristics of the surveyed individuals; the questions for female urologists evaluated their work tendencies; for the residents we evaluated their plans as urologists; and the patients were asked about their preferences to be evaluated in medical consultation and to have a surgery performed by either a male or female urologist. RESULTS: The survey was answered by 53 female urologists. The average age was 37 years, the majority (54%) worked in Bogotá. 34% have subspecialized, the majority in andrology (16%) endourology (16%) and pediatric urology (16%). Most of them (73.6%) perform surgery between 5-20 hours weekly, and the most performed surgery was varicocelectomy. 34% referred to have been harassed in their work environment based on their gender.Thirty-six female residents answered the survey. Th eaverage age was 28 years. The average number of academic publications was 3. 80% wish to achieve a sub-specialization, of which 24% would do it in endourology. 41% referred to have been harassed. 188 patients answered the survey, 96 men and 87 women; 44.1% preferred to be attended in medical consultation by a female urologist, and 49.2% preferred to be operated by a male urologist. CONCLUSIONS: The number of female urologists has exponentially increased, just as the percentage of female residents. Female residents wish to subspecialize in diverse areas. Patients prefer to be attended by a female urologist in medical consultation but prefer to have surgery performed by a male urologist.
El aprendizaje-servicio es un eficaz modo de conectar las prácticas académicas con la sociedad. Esta aportación presenta una experiencia educativa que se desarrolló en el marco de una campaña de ...concienciación sobre la conservación de los aguiluchos cenizos. En este proyecto colaboraron la Sociedad Española de Ornitología (SEO/BirdLife), la Facultad de Educación de Segovia de la Universidad de Valladolid, la Diputación Provincial de Segovia y varias escuelas rurales. El objetivo del artículo es evaluar la utilidad y el alcance de la experiencia diseñada por estudiantes del Grado en Educación Primaria. Para ello, se ha diseñado un cuestionario dirigido a los seis profesionales que implementaron la propuesta entre 2016 y 2018. Los resultados, organizados en cuatro categorías de análisis, evidencian que la experiencia de aprendizaje-servicio ha funcionado adecuadamente, pues, además de tener un indudable valor formativo para las estudiantes implicadas, ha respondido a las necesidades de la campaña de concienciación, cuyo objetivo es generar ciudadanos comprometidos con su entorno.
Este artículo propone una metodología para evaluar el impacto social de un proyecto que es producto de una investigación denominada: “Vivienda emergente y sustentable: una solución para la comunidad ...de Río Muchacho” realizada en la Universidad Nacional de Chimborazo por la carrera de Arquitectura con el apoyo de Ingeniería Civil. Su propósito fue donar viviendas emergentes a la comunidad antes mencionada para ayudar a remediar los problemas de hábitat de los damnificados por el terremoto ocurrido en Ecuador en abril de 2016. Después del evento ocurrido esta congregación no recibió atención prioritaria porque era pequeña. Como parte de la metodología, se elaboraron dos instrumentos destinados a emitir criterios sobre los resultados y el impacto de la construcción de las viviendas tanto en los beneficiarios como en todos los entes involucrados. Los resultados de su aplicación demuestran su confiabilidad para lograr los objetivos establecidos, obteniendo información vital sobre los efectos que el proyecto tuvo en los involucrados. Se concluye que el hecho de que un procedimiento formal para evaluar el impacto social de un proyecto sea elaborado previa y científicamente contribuye significativamente a una evaluación objetiva de sus beneficios.
Subungual melanomas are rare neoplasms that tend to debut as longitudinal melanonychia. They are primarily found in patients over 60 years of age and are usually diagnosed late, representing a ...diagnostic challenge. We present a case report of a 59-year-old female Hispanic patient who initially presented with melanonychia and was eventually diagnosed with subungual melanoma in situ. She was surgically treated and, after three months, remained healthy. Relevant risk factors, clinical and onychoscopic findings, diagnostic criteria, and treatment options are also discussed. Since many benign entities present similarly, high clinical suspicion is critical for diagnosing this entity.
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