Objetivo: Diseño y validación de un instrumento de medida de la satisfacción manifestada por pacientes en tratamiento oncológico en régimen ambulatorio en Hospital de Día. Método: Estudio transversal ...descriptivo de periodo mediante la administración de un cuestionario a una muestra de 148 pacientes oncológicos atendidos en régimen ambulatorio en el Hospital Costa del Sol, Marbella. Se analizaron la validez, consistencia interna, y la reproducibilidad de los items del instrumento. Resultados: La correlación ítem-escala mostró coeficientes que superaban el umbral de adecuación de 0,30. El análisis factorial de los componentes determinó un adecuado ajuste dado un valor de KMO de 0,91 y una p<0,001 en el test de esfericidad de Barlett. El análisis de consistencia interna determinó coeficientes de alfa de Cronbach > 0,70. El retest determinó porcentajes de acuerdo absoluto superiores al 90% en todos los ítems, y valores de kappa puntuales que oscilaban entre 0,52 y 0,93. Conclusión: Los resultados obtenidos permiten determinar que a priori el cuestionario es un instrumento fiable y válido para su utilización en lengua castellana.
Vedolizumab is a humanised monoclonal antibody that binds to integrin α4β7 expressed in T-cells, inhibiting its binding to the mucosal addressin cell adhesion molecule-1 (MAdCAM-1), which is ...specifically expressed in the small intestine and colon, playing a fundamental role in T-cell migration to the gastrointestinal tract. Vedolizumab has been shown to be effective in treating adults with inflammatory bowel disease; however, efficacy data for paediatric use are scarce. The objective of the present study was to assess the effectiveness and safety of vedolizumab for inducing and maintaining clinical remission in children with inflammatory bowel disease. We conducted a retrospective multicentre study of patients younger than 18 years with inflammatory bowel disease refractory to anti-tumour necrosis factor alpha (anti-TNF-α) drugs, who underwent treatment with vedolizumab. Clinical remission was defined as a score < 10 points in the activity indices. We included 42 patients, 22 of whom were male (52.3%), with a median age of 13.1 years (IQR 10.2–14.2) at the start of treatment. Of the 42 patients, 14 (33.3%) had Crohn’s disease (CD) and 28 (66.7%) had ulcerative colitis (UC). At the start of treatment with vedolizumab, the Paediatric Crohn’s Disease Activity Index was 36 (IQR 24–40) and the Paediatric Ulcerative Colitis Activity Index was 47 (IQR 25–65). All of them had received prior treatment with anti-TNF and 3 patients ustekinumab. At week 14, 69% of the patients responded to the treatment (57.1% of those with CD and 75% of those with UC;
p
=0.238), and 52.4% achieved remission (35.7% with CD and 60.7% with UC;
p
=0.126). At 30 weeks, the response rate was 66.7% (46.2% and 78.3% for CD and UC, respectively;
p
=0.049), and 52.8% achieved remission (30.8% and 65.2% for CD and UC, respectively;
p
=0.047). Among the patients with remission at week 14, 80% of the patients with CD and 84.5% of those with UC maintained the remission at 52 weeks. Adverse effects were uncommon and mild. Three patients (7.1%) presented headaches, 1 presented alopecia, 1 presented anaemia and 1 presented dermatitis.
Conclusion
: The results show that treatment with vedolizumab is a safe and effective option for achieving clinical remission in paediatric patients with inflammatory bowel disease with primary failure or loss of response to other treatments, especially in UC.
What is Known:
• Vedolizumab is effective in inducing and maintaining remission in adult patients with inflammatory bowel disease.
• Most studies and clinical trials have been performed on adult populations, and there is currently no indication for paediatric populations.
What is New:
• Children with inflammatory bowel disease refractory to anti-TNF presented higher clinical remission rates than those published for adults.
• There are few publications of this magnitude on paediatric populations treated with vedolizumab and with long-term follow-up (52 weeks).
Liver Mesenchymal Hamartoma Cahís Vela, Nuria; Loverdos Eseverri, Inés; Beltrán Salazar, Viviana Patricia ...
Journal of pediatric surgery case reports,
20/May , Letnik:
68
Journal Article
Recenzirano
Odprti dostop
Liver Mesenchymal Hamartoma (LMH) is a rare benign lesion occurring primarily in the pediatric population. The pathogenesis is not certain, although an association has been seen with abnormal ...mesodermal synchronous development in the portal tract. A 4-year-old female patient, with no relevant personal and family history, was evaluated for abdominal distension. Hepatomegaly was detected as a casual finding. Image tests showed a multiseptae cystic lesion in the right lobe of the liver. Gross pathological review of the lesion identified a cystic consistency tumor occupying the entire right lobe and displacing suprahepatic vessels, gallbladder and vascular pedicle. Complete dissection was performed. Histologically studies showed a smooth and shiny external surface, multiloculated, with a liquid content exit of yellowish coloration and thickened walls with areas of yellowish coloration and focally of increased consistency. The mass consisted on cystic neoplasm of thickened walls and abundant vessels, with calcified areas, as well as dilated biliary and lymphatic ducts and mild associated chronic inflammatory component. The patient was discharged home on postoperative day seven. A review of the literature for LMH in children reports a few publications, most of them limited to case reports. LMH has the potential for mixed pathology, multifocality, incomplete regression and rare malignant transformation, so it is important to make a correct differential diagnosis in order to not underdiagnose.
We present the case of a 56-year-old patient with a generalized adenomegalic syndrome who presented a mixed cellular Hodgkin’s lymphoma associated with Epstein Barr Virus. The patient had had great ...emotional stress prior to the onset of lymphoma, which possibly contributed to the decrease in immunological surveillance. The case was addressed by the students of the fifth semester in the subject “Medical Act”, an interdisciplinary didactic strategy. We present the aspects to be taken into account in the approach of the clinician of patients with adenopathies from an integrative perspective of immunology, clinical and differential diagnoses; and the value of the study of clinical cases with several diagnostic approaches as a didactic strategy is highlighted. Finally, we present a literature review about Hodgkin lymphoma and the role which plays stress related Epstein Barr Virus infection.
Objective
GNAO1‐related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, ...and epilepsy. Neither a genotype–phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1‐related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity.
Methods
A total of 16 individuals with GNAO1‐related disorders harboring 12 distinct missense variants, including four novel variants (p.K46R, p.T48I, p.R209P, and p.L235P), were examined with repeated clinical assessments, video‐electroencephalogram monitoring, and brain magnetic resonance imaging. The molecular pathology of each variant was delineated using a molecular deconvoluting platform.
Results
The patients displayed a wide variability in the severity of their symptoms. This heterogeneity was well represented in the GNAO1‐related disorders severity score, with a broad range of results. Patients with the same variant had comparable severity scores, indicating that differences in disease profiles are not due to interpatient variability, but rather, to unique disease mechanisms. Moreover, we found a significant correlation between clinical severity scores and molecular mechanisms.
Interpretation
The clinical score proposed here provides further insight into the correlation between pathophysiology and phenotypic severity in GNAO1‐related disorders. We found that each variant has a unique profile of clinical phenotypes and pathological molecular mechanisms. These findings will contribute to better understanding GNAO1‐related disorders. Additionally, the severity score will facilitate standardization of patients categorization and assessment of response to therapies in development. ANN NEUROL 2023;94:987–1004
Se muestra el caso de un paciente con 56 años de edad, con un síndrome adenomegálico generalizado que presentó un linfoma de Hodgkin de celularidad mixta, asociado al virus de Epstein-Barr. El ...paciente previo al inicio del linfoma presentó episodios prolongados de estrés emocional, lo que posiblemente contribuyó a la disminución de la vigilancia inmunológica. El caso fue abordado por los estudiantes de quinto semestre en la asignatura Acto médico, una estrategia didáctica interdisciplinaria. Este artículo presenta los aspectos a tener en cuenta en el enfoque clínico de los pacientes con adenopatías desde una perspectiva integradora de la inmunología, la clínica y los diagnósticos diferenciales. Se resalta el valor del estudio de los casos clínicos con varios métodos diagnósticos como estrategia didáctica. Finalmente, se realiza una revisión de la literatura sobre el linfoma Hodgkin orientada al papel en el que participa la infección por el virus de Epstein-Barr, relacionada con la inmunosupresión por estrés.
This article describes the development of a small-scale model for Ficoll-based cell separation as part of process development of an advanced therapy medicinal product and its qualification. Because ...of the complexity of biological products, their manufacturing process as well as characterization and control needs to be accurately understood. Likewise, scale-down models serve as an indispensable tool for process development, characterization, optimization and validation. This scale-down model represents a cell processor device widely used in advance therapies. This approach is inteded to optimise resources and to focus its use on process characterisation studies under the paradigm of the Quality by design. A scale-down model should reflect the large manufacturing scale. Consequently, this simplified system should offer a high degree of control over the process parameters to depict a robust model, even considering the process limitations. For this reason, a model should be developed and qualified for the intended purpose.
Process operating parameters were studied, and their resulting performance at full scale was used as a baseline to guide scale-down model development. Once the model was established, comparability runs were performed by establishing standard operating conditions with bone marrow samples. These analyses showed consistency between the bench and the large scale. Additionally, statistical analyses were employed to demonstrate equivalence.
The process performance indicators and assessed quality attributes were equivalent and fell into the acceptance ranges defined for the large-scale process.
This scale-down model is suitable for use in process characterization studies.
Abstract
Background
Myopia prevalence has been increasing in the last decades, and its pathological consequences, including myopic maculopathy and high myopia-associated optic neuropathy, are now one ...of the most common causes of visual impairment. It is estimated that by 2050, more than 50% of Europeans and Americans will be myopes, which is alarming due to the high morbidity of myopes over − 6.00D. Once myopia has appeared, there are different options with scientific evidence to try to slow the axial length growth. Ophthalmic lenses are the less invasive treatment to control myopia, and there is evidence about the efficacy of different designs, mainly in the Asiatic population. However, new designs have been launched, and it is not known if efficacy is the same between Asiatic and European subjects. Thus, we have set up a randomized, controlled, double-blind, and multicenter trial to investigate the efficacy of a new design of ophthalmic lenses for myopia control in European children.
Methods
A 2-year prospective, multicenter, randomized controlled, and double-blind clinical trial is used to investigate the efficacy of a new design of ophthalmic lenses to slow the progression of myopia. Three hundred children aged from 6 to 13 years old will be recruited and randomly assigned to a study or control group. The study group will be composed of 150 children wearing MyoCare while the control group will be composed of 150 children wearing Clearview. The inclusion criteria will be myopia with a spherical equivalent between − 0.75D and − 5.00D, astigmatism < 1.50D, and anisometropia < 1.00D and having a historical evolution of at least − 0.50 The primary outcome is to compare the mean annual progression of the spherical equivalent between both groups. The secondary outcomes are axial length, choroidal thickness, phorias, and accommodative status of both groups.
Discussion
This study will be the first randomized and controlled clinical trial in European children with spectacle lenses based on simultaneous competing defocus. The results will shed light on the clinical evidence of spectacle lenses relying on this new design for the management of myopia with results of efficacy in the non-Asiatic population.
Trial registration
EU Clinical Trials Register (EudraCT) 2022–001696. Registered on 27 April 2022. ClinicalTrials.gov NCT05919654. Registered on 26 June 2023.
The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced
...GATA2
and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2). A daughter of P1 had died at 20 years from infectious complications. Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence
GATA2
. Patients were heterozygous for a novel, hypomorphic, R396L mutation leading to haplo-insufficiency. B- and T-cell rearrangement in peripheral blood from P1 during the influenza episode showed expansion of one major clone. No T-cell receptor excision circles were detected in P1 and P3 since they were 35 and 18 years, respectively. Both patients presented an exuberant, interferon (IFN)-γ-mediated hypercytokinemia during H1N1pdm infection. No data about patients with viremia was available. Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. However, a role of other genetic variants involved in immune responses cannot be ruled out. Patients with GATA2 deficiency can reach young adulthood without severe infections, including influenza, despite long-lasting complete B-cell and natural killer (NK) cell deficiency, as well as profoundly diminished T-cell thymic output.
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