Experiencia de entrenadores deportivos y padres en el proceso de inclusión de niños y jóvenes con síndrome de Down en Puerto Rico / Experience of sports coaches and parents in the inclusion process of children and youth with Down syndrome in Puerto Rico

Introducción Los jóvenes con discapacidad suelen ser menos activos físicamente que los jóvenes sin discapacidad y existen barreras que limitan el nivel de actividad física en su diario vivir. El propósito de esta investigación cualitativa con diseño fenomenológico fue explorar y describir la experiencia de los padres y entrenadores de equipos deportivos en Puerto Rico, en el proceso de inclusión de niños y jóvenes con síndrome de Down. Método Los participantes fueron 3 entrenadores deportivos y 3 padres de niños y/o jóvenes con síndrome de Down, cuyos hijos fueran estudiantes de los entrenadores. Se llevaron a cabo entrevistas semiestructuradas en las que se encontró que la experiencia para los padres fue positiva en términos de los beneficios físicos y sociales que brinda el realizar actividad física junto con niños o jóvenes típicos. Resultados Pudieron ser identificados diferentes barreras y facilitadores para el proceso de inclusión y los entrenadores se consideran una herramienta clave en este proceso. Los fisioterapeutas fueron identificados como facilitadores de la inclusión, por su rol como promotores de salud, desarrollo y actividad física. Conclusiones Existe un espacio de oportunidad para la creación y promoción de más programas de deporte inclusivo, y se resaltó la importancia de que profesionales de la salud como los fisioterapeutas estén involucrados en la promoción de la inclusión y educación a los padres de niños o jóvenes con síndrome de Down sobre alternativas disponibles para que sus hijos estén físicamente activos (AU)

Introduction Children and young people with disabilities are usually less physically active than young people without disabilities with barriers that limit the levels of physical activity in their daily lives. The purpose of this qualitative research with phenomenological design was to explore and describe the experience of parents and coaches of sports teams in Puerto Rico, in the inclusion process of children and young people with Down syndrome. Method The participants were 3 sports coaches and 3 parents of children and/or young people with Down syndrome, whose children were students of the coaches. Semi-structured interviews were carried out in which it was found that the experience for the parents was positive in terms of the physical and social benefits provided by performing physical activity together with typical children or young people. Results Different barriers and facilitators were identified for the inclusion process and the sports coaches are considered a key tool in this process. Physiotherapists were identified as facilitators of inclusion, due to their role as promoters of health, development, and physical activity. Conclusions There is a window of opportunity for the creation and promotion of more inclusive sports programmes, and the importance is highlighted of health professionals such as physiotherapists being involved in promoting the inclusion and education of parents of children or young people with Down syndrome on available alternatives for their children to be physically active (AU)

Manejo de la membrana neovascular coroidea secundaria a toxoplasmosis ocular / Management of the neovascular choroidal membrane secondary to ocular toxoplasmosis

Paciente de 12 años diagnosticado de toxoplasmosis congénita sin tratamiento sistémico en el momento actual que acude por disminución de la agudeza visual (AV) en su ojo izquierdo (OI). A la exploración se objetiva una AV en su OI de 0,05 y al examen funduscópico un foco de coriorretinitis adyacente a una cicatriz macular pigmentada y una gran hemorragia subretiniana asociada. Tras confirmar el diagnóstico de membrana neovascular coroidea (MNVC) secundaria a toxoplasmosis ocular, se inicia tratamiento con fármacos anti-toxoplásmicos sistémicos y 2 dosis de anti-VEGF intravítreos separadas por un mes de diferencia. Finalmente, alcanza una AV en el OI de 0,4, y se logra una reabsorción de la hemorragia quedando una cicatriz pigmentada macular inactiva. El uso de anti-VEGF intravítreos en cuadros de toxoplasmosis ocular se han asociado a la reactivación de antiguas lesiones, por lo que se recomienda el uso profiláctico de fármacos anti-toxoplásmicos orales en estos casos

A 12-year-old patient diagnosed with congenital toxoplasmosis, with no systemic treatment at the time, who presented with a decreased visual acuity (VA) in his left eye (LE). On examination, VA in the LE was 0.05 and the fundus examination revealed a focus of chorioretinitis adjacent to a pigmented macular scar, as well as a large associated subretinal haemorrhage. After confirming the diagnosis of choroidal neovascular membrane secondary to ocular toxoplasmosis, treatment was started with systemic anti-toxoplasmosis drugs and two anti-VEGF intravitreal injections separated by one month. Finally, the patients had a VA in LE of 0.4, with reabsorption of the haemorrhage, leaving an inactive pigmented macular scar. The use of anti-VEGF intravitreal injections in cases of ocular toxoplasmosis has been associated with a reactivation of old lesions, so the prophylactic use of oral anti-toxoplasmosis drugs is recommended in these cases

Metástasis coroidea como primera manifestación de carcinoma papilar de tiroides: a propósito de un caso / Choroidal metastases as initial manifestation of a papillary thyroid carcinoma: A case report

Se presenta el caso de un varón de 78 años que consultó por disminución de visión en ojo derecho de meses de evolución. En la exploración funduscópica se detectó existencia de una masa coroidea de coloración amarillo-anaranjado, sin desprendimiento de retina asociado. La tomografía computarizada demostró presencia de una masa localizada en istmo tiroideo así como múltiples adenopatías y focos de diseminación de aspecto metastásico. La broncoscopia con biopsia pulmonar mostró hallazgos compatibles con diseminación metastásica. La punción-aspiración con aguja fina del nódulo tiroideo fue diagnóstica para un carcinoma papilar de tiroides subtipo células columnares y la tomografía por emisión de positrones confirmó secundarismo a carcinoma primario de tiroides. Se trató al paciente con tiroidectomía total y tratamiento sustitutivo tiroideo, y posteriormente tratamiento ablativo con radioyodo

The case is presented of 78 year-old who consulted due to decreased visual acuity in right eye for several months. Indirect ophthalmoscopy revealed an orange-yellow coloured choroidal mass at the posterior pole, without retinal detachment. Computed tomography showed a thyroid mass in the isthmus, as well as multiple pulmonary nodules and metastatic foci. The findings of transbronchial lung biopsy were compatible with metastatic dissemination. Fine-needle aspiration biopsy of thyroid nodule was diagnostic for a with columnar cell variant of papillary thyroid cancer. Positron emission tomography confirmed papillary thyroid carcinoma. The patient underwent total thyroidectomy and radioactive iodine therapy

Choroidal metastases as initial manifestation of a papillary thyroid carcinoma: A case report. / Metástasis coroidea como primera manifestación de carcinoma papilar de tiroides: a propósito de un caso.

The case is presented of 78 year-old who consulted due to decreased visual acuity in right eye for several months. Indirect ophthalmoscopy revealed an orange-yellow coloured choroidal mass at the posterior pole, without retinal detachment. Computed tomography showed a thyroid mass in the isthmus, as well as multiple pulmonary nodules and metastatic foci. The findings of transbronchial lung biopsy were compatible with metastatic dissemination. Fine-needle aspiration biopsy of thyroid nodule was diagnostic for a with columnar cell variant of papillary thyroid cancer. Positron emission tomography confirmed papillary thyroid carcinoma. The patient underwent total thyroidectomy and radioactive iodine therapy.

Management of the neovascular choroidal membrane secondary to ocular toxoplasmosis. / Manejo de la membrana neovascular coroidea secundaria a toxoplasmosis ocular.

A 12-year-old patient diagnosed with congenital toxoplasmosis, with no systemic treatment at the time, who presented with a decreased visual acuity (VA) in his left eye (LE). On examination, VA in the LE was 0.05 and the fundus examination revealed a focus of chorioretinitis adjacent to a pigmented macular scar, as well as a large associated subretinal haemorrhage. After confirming the diagnosis of choroidal neovascular membrane secondary to ocular toxoplasmosis, treatment was started with systemic anti-toxoplasmosis drugs and two anti-VEGF intravitreal injections separated by one month. Finally, the patients had a VA in LE of 0.4, with reabsorption of the haemorrhage, leaving an inactive pigmented macular scar. The use of anti-VEGF intravitreal injections in cases of ocular toxoplasmosis has been associated with a reactivation of old lesions, so the prophylactic use of oral anti-toxoplasmosis drugs is recommended in these cases.

Pre-operative voice evaluation as a hypothetical predictor of difficult laryngoscopy

We examined the potential for voice sounds to predict a difficult airway as compared with prediction by the modified Mallampati test. A total of 453 patients scheduled for elective surgery under general anaesthesia with tracheal intubation were studied. Five phonemes were recorded and their formants analysed. Difficult laryngoscopy was defined as the Cormack-Lehane grade 3 or 4. Univariate and multivariate logistic regression were used to examine the association between some variables (mouth opening, sternomental distance, modified Mallampati and formants) and difficult laryngoscopy. Difficult laryngoscopy was reported in 29/453 (6.4%) patients. Among five regression models evaluated, the model achieving better performance to predict difficult laryngoscopy, after a variable selection criteria (stepwise, multivariate) and included a modified Mallampati classification (OR 2.920; 95%CI 1.992-4.279; p < 0.001), first formant of /i/(iF1) (OR 1.003; 95%CI 1.002-1.04; p < 0.001), and second formant of /i/(iF2) (OR 0.998; 95%CI 0.997-0.998; p < 0.001). The receiver operating curve for a regression model that included both formants and Mallampati showed an area under curve of 0.918, higher than formants alone (area under curve 0.761) and modified Mallampati alone (area under curve 0.874). Voice presented a significant association with difficult laryngoscopy during general anaesthesia showing a 76.1% probability of correctly classifying a randomly selected patient. (AU)

Pre-operative voice evaluation as a hypothetical predictor of difficult laryngoscopy.

We examined the potential for voice sounds to predict a difficult airway as compared with prediction by the modified Mallampati test. A total of 453 patients scheduled for elective surgery under general anaesthesia with tracheal intubation were studied. Five phonemes were recorded and their formants analysed. Difficult laryngoscopy was defined as the Cormack-Lehane grade 3 or 4. Univariate and multivariate logistic regression were used to examine the association between some variables (mouth opening, sternomental distance, modified Mallampati and formants) and difficult laryngoscopy. Difficult laryngoscopy was reported in 29/453 (6.4%) patients. Among five regression models evaluated, the model achieving better performance to predict difficult laryngoscopy, after a variable selection criteria (stepwise, multivariate) and included a modified Mallampati classification (OR 2.920; 95%CI 1.992-4.279; p < 0.001), first formant of /i/(iF1) (OR 1.003; 95%CI 1.002-1.04; p < 0.001), and second formant of /i/(iF2) (OR 0.998; 95%CI 0.997-0.998; p < 0.001). The receiver operating curve for a regression model that included both formants and Mallampati showed an area under curve of 0.918, higher than formants alone (area under curve 0.761) and modified Mallampati alone (area under curve 0.874). Voice presented a significant association with difficult laryngoscopy during general anaesthesia showing a 76.1% probability of correctly classifying a randomly selected patient.

The SASE1 X-ray beam transport system.

SASE1 is the first beamline of the European XFEL that became operational in 2017. It consists of the SASE1 undulator system, the beam transport system, and the two scientific experiment stations: Single Particles, Clusters, and Biomolecules and Serial Femtosecond Crystallography (SPB/SFX), and Femtosecond X-ray Experiments (FXE). The beam transport system comprises mirrors to offset and guide the beam to the instruments and a set of X-ray optical components to align, manipulate and diagnose the beam. The SASE1 beam transport system is described here in its initial configuration, and results and experiences from the first year of user operation are reported.

Valorization of poly(lactic acid) wastes via mechanical recycling: Improvement of the properties of the recycled polymer.

Poly(lactic acid) (PLA) is a biobased polymer that represents one of the most interesting alternatives to fossil-fuel based polymers in food packaging applications. Most of the PLA used in food packaging is used only once and then discarded, even though the PLA types used in packaging have good properties and stability. Therefore, it seems reasonable to consider the possibility of recycling the used polymer through a mechanical recycling process. The main aims of this work are to study the effect of the mechanical recycling on the properties of PLA and the usefulness of different upgrading methods to obtain recycled PLA with improved properties. A commercial type of PLA was subjected to accelerated thermal, photochemical and hydrolytic aging and then reprocessed. During reprocessing, aged PLA was blended with virgin PLA and a commercial chain extender was added. Results point out that recycling causes the degradation of PLA, and negatively affects the thermal stability and mechanical properties. However, addition of virgin PLA, and the chain extender, led to an increase of up to 9% in the intrinsic viscosity and 8% in the Vickers hardness of the recycled material. These results suggest that mechanically recycled PLA with improved performance can be obtained, a fact which might improve the recyclability of PLA and thus the environmental impact of this material.

Clinical impact of NK-cell reconstitution after reduced intensity conditioned unrelated cord blood transplantation in patients with acute myeloid leukemia: analysis of a prospective phase II multicenter trial on behalf of the Société Française de Greffe de Moelle Osseuse et Thérapie Cellulaire and Eurocord.

Unrelated cord blood transplantation (UCBT) after a reduced intensity conditioning regimen (RIC) has extended the use of UCB in elderly patients and those with co-morbidities without an HLA-identical donor, although post-transplant relapse remains a concern in high-risk acute myeloid leukemia (AML) patients. HLA incompatibilities between donor and recipient might enhance the alloreactivity of natural killer (NK) cells after allogeneic hematopoietic stem-cell transplantation (HSCT). We studied the reconstitution of NK cells and KIR-L mismatch in 54 patients who underwent a RIC-UCBT for AML in CR in a prospective phase II clinical trial. After RIC-UCBT, NK cells displayed phenotypic features of both activation and immaturity. Restoration of their polyfunctional capacities depended on the timing of their acquisition of phenotypic markers of maturity. The incidence of treatment-related mortality (TRM) was correlated with low CD16 expression (P=0.043) and high HLA-DR expression (P=0.0008), whereas overall survival was associated with increased frequency of NK-cell degranulation (P=0.001). These features reflect a general impairment of the NK licensing process in HLA-mismatched HSCT and may aid the development of future strategies for selecting optimal UCB units and enhancing immune recovery.

Ab initio study of several static and dynamic properties of bulk liquid Ni near melting.

Several static and dynamic properties of bulk liquid Ni at a thermodynamic state near its triple point have been evaluated by ab initio molecular dynamics simulations. The calculated static structure shows very good agreement with the available experimental data, including an asymmetric second peak in the static structure factor, which underlines a marked local icosahedral short-range order in the liquid. The dynamical structure reveals propagating density fluctuations, and the calculated dynamic structure factors, S(q,ω), show a good agreement with the inelastic x-ray scattering measurements. The obtained dispersion relation closely follows that obtained from the inelastic x-ray scattering measurements; moreover we analyze the possible reasons behind its discrepancy with respect to the dispersion relation derived from the inelastic neutron scattering data. The dynamical processes behind the S(q,ω) have been analyzed by using a model with two decay channels (a fast and a slow) associated with the relaxations of the collective excitations. We have found that the transverse current spectral functions exhibit some features which, so far, had previously been shown by high pressure liquid metals only. Furthermore, the calculated S(q,ω) show, within some q-range, the appearance of transverse-like excitation modes, similar to those recently found in other liquid metals. Finally, results are also reported for several transport coefficients.

Impact of HLA mismatch direction on outcomes after umbilical cord blood transplantation for hematological malignant disorders: a retrospective Eurocord-EBMT analysis.

HLA matching is a critical determinant of outcomes for patients who have undergone umbilical cord blood transplantation (UCBT). Data have been published on the importance of donor/recipient HLA mismatch direction on UCBT outcomes. HLA mismatch in the graft-versus-host (GVH) direction is defined as a donor homozygous at an HLA locus, while the recipient shares one HLA Ag with the donor. HLA mismatch in the host-versus-graft (HVG) direction is defined as a recipient homozygous with the donor sharing one HLA Ag. In our study we focused on confirming, using an independent population, whether transplantation outcomes would be different when HLA mismatch direction was considered. We analyzed 1565 patients who received a single-unit UCBT for malignant disease. Median age was 15 years and 72% of patients were transplanted for leukemia. In multivariate analysis, using the 5/6 HLA-matched population as reference, one or two HLA mismatches in the GVH or HVG direction were not associated with non-relapse related mortality and survival. On the basis of our results, there is no evidence to support a change in the current practice for cord blood unit selection.

Acremonium sclerotigenum-Acremonium egyptiacum: a multi-resistant fungal pathogen complicating the course of aplastic anaemia.

A patient with aplastic anaemia, successively treated with caspofungin then liposomal amphotericin, developed a disseminated infection due to Acremonium, further confirmed as resistant in vitro to these drugs. Successful treatment was achieved with voriconazole. Multiple antifungal treatments may expose to the risk of breakthrough of multi-resistant pathogens in haematology patients.

[Macrophage activation syndrome as the presenting manifestation of intravascular lymphoma]. / Lymphome intravasculaire révélé par un syndrome d'activation macrophagique.

INTRODUCTION: Intravascular large B cell lymphoma is a neoplastic cell proliferation leading to the occlusion of the lumen of small vessels. This is a rare haematological malignancy, which is difficult to diagnose because of a heterogeneous clinical presentation. CASE REPORT: We report a 62-year-old man who presented a macrophage activation syndrome as the presenting manifestation of an intravascular lymphoma. This association is frequently marked by a greater severity and clinical care requires an early and appropriate treatment. CONCLUSION: Due to the polymorphism and the systemic presentation of intravascular large B cell lymphoma, the internist may be confronted with this disease, which is considered to be more severe if associated with a macrophage activation syndrome. Awareness of the intravascular large B cell lymphoma is important because the prognosis depends on the rapidity of the initiation of chemotherapy associated with rituximab.

Extensive chronic GVHD is associated with donor blood CD34+ cell count after G-CSF mobilization in non-myeloablative allogeneic PBSC transplantation.

The correlation between the incidence of GVHD and the number of infused CD34(+) cells remains controversial for PBSC transplantation after a reduced-intensity-conditioning (RIC) regimen. We evaluated 99 patients transplanted with an HLA-identical sibling after the same RIC (2-Gy-TBI/fludarabine). Donor and recipient characteristics, donor's blood G-CSF-mobilized CD34(+) cell count, and number of infused CD34(+) and CD3(+) cells were analyzed as risk factors for acute and chronic GVHD There was a trend for an increased incidence of extensive chronic GVHD in the quartile of patients receiving more than 10 × 10(6) CD34(+) cells/kg (P = 0.05). Interestingly, the number of donor's blood CD34(+) cells at day 5 of G-CSF mobilization was closely associated with the incidence of extensive chronic GVHD, that is, 48% (95% CI: 28-68) at 24-months in the quartile of patients whose donors had the highest CD34(+) cell counts versus 24.3% (95% CI: 14-34) in the other patients (P = 0.007). In multivariate analysis, the only factor correlating with extensive chronic GVHD (cGVHD) was the donor's blood CD34(+) cell count after G-CSF (HR 2.49; 95% CI: 1.16-5.35, P = 0.019). This study shows that the incidence of cGVHD is more strongly associated with the donor's ability to mobilize CD34(+) cells than with the number of infused CD34(+) cells.

Reduced-intensity conditioning allogeneic stem cell transplantation for relapsed/refractory mantle cell lymphoma: a multicenter experience.

BACKGROUND: Despite therapeutic approach that combines rituximab-containing chemotherapy, followed or not by autologous stem cell transplantation (auto-SCT), mantle cell lymphoma (MCL) patients experience relapses. Reduced-intensity conditioning allogeneic stem cell transplantation (RIC-allo-SCT) at time of relapse may represent an attractive strategy. PATIENTS AND METHODS: We report a multicenter retrospective analysis. Seventy MCL patients underwent RIC-allo-SCT in 12 centers. RESULTS: Median age at transplantation was 56 years and median time from diagnosis to transplantation was 44 months. The median number of previous therapies was 2 (range, 1-5) including autologous transplantation in 47 cases. At time of transplantation, 35 patients were in complete remission, 20 were in partial response and 15 in stable disease or progressive disease. The median follow-up for living patients was 24 months. The 2-year event-free survival (EFS) and overall survival (OS) rates were 50% and 53%, respectively. The 1- and 2-year transplant-related mortality rates were 22% and 32%, respectively. The statistical analysis demonstrated that disease status at transplantation was the only parameter influencing EFS and OS. CONCLUSIONS: These results suggest that RIC-allo-SCT may be an effective therapy in MCL patients with a chemo-sensitive disease at time of transplantation, irrespective of the number of lines of prior therapy. Studies are warranted to investigate the best type of RIC regimen.

Autologous stem-cell transplantation in patients with mantle cell lymphoma beyond 65 years of age: a study from the European Group for Blood and Marrow Transplantation (EBMT).

BACKGROUND: Limited experience is available on the feasibility and efficacy of autologous stem-cell transplantation (ASCT) in patients with mantle cell lymphoma (MCL) beyond 65 years. DESIGN AND METHODS: We analysed 712 patients with MCL treated with ASCT from 2000 to 2007 and reported to the European Group for Blood and Marrow Transplantation registry. Patients>65 years were compared with patients<65 years for the end points non-relapse mortality (NRM), relapse incidence, progression-free survival (PFS), and overall survival (OS). RESULTS: Seventy-nine patients were ≥65 years old. Median time from diagnosis to ASCT was longer in the elderly patients (11 versus 9 months, P=0.005); they had more commonly received at least two treatment lines (62.0% versus 47.9%, P=0.02) and were less commonly in first complete remission at ASCT (35.4% versus 51.2%, P=0.002). Median follow-up after ASCT was 19 and 25 months, respectively. NRM was comparable at 3 months (3.8% versus 2.5%) and at 5 years (5.6% versus 5.0%). There were no differences in relapse rate (66% versus 55% at 5 years), PFS (29% versus 40%) and OS (61% versus 67%) between both populations of patients. CONCLUSION: ASCT beyond 65 years of age is feasible in selected patients with MCL and results in similar disease control and survival as in younger patients.