Hereditary angioedema in Spain: medical care and patient journey.

BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated urticaria. The characteristics of the disease have a considerable impact on the quality of life of patients. The aim of this study was to increase understanding of the patient journey of HAE in Spain. METHODS: A multidisciplinary committee of 16 HAE experts (allergy, immunology, emergency department, hospital pharmacy and nursing) and 3 representatives of the Spanish Hereditary Angioedema Patient Association (AEDAF) who were patients or caregivers participated in the study. A review of the publications on HAE treatment was performed. Semi-structured interviews were performed to HAE experts, patients, or caregivers. Three meetings with the experts, patients and caregivers were held to share, discuss, and validate data obtained from literature and interviews and to build the model. RESULTS: Throughout the project, the patient journey has been drawn up, dividing it into the stages of pre-diagnosis, diagnosis and treatment/follow-up. Some areas for improvement have been identified. Firstly, there is a need to enhance awareness and training on HAE among healthcare professionals, with a particular emphasis on primary care and emergency department personnel. Secondly, efforts should be made to minimize patient referral times to allergy/immunology specialists, ensuring timely access to appropriate care. Thirdly, it is crucial to encourage the study of the relatives of diagnosed patients to early identify potential cases. Fourthly, equitable access to self-administered treatments should be ensured, facilitated by systems that enable medication delivery at home and proper education and training for patients. Equitable access to long-term prophylactic treatment should also be prioritized for all patients in need. To standardize HAE management, the development of consensus guidelines that reduce variability in clinical practice is essential. Lastly, promoting research studies to enhance knowledge of the disease and align its treatment with new developments in the healthcare field should be encouraged. CONCLUSIONS: The knowledge of the patient journey in HAE allowed us to identify improvement areas with the final aim to optimize the disease management.

The visual impact of higher-order aberrations in patients with pediatric blepharokeratoconjunctivitis.

PURPOSE: To analyze higher-order aberrations (HOAs) and their visual impact in a pediatric blepharokeratoconjunctivitis (PBKC) cohort compared with healthy controls. METHODS: Prospective case-control study of pediatric patients (≤ 16 years old). Subjects underwent wavefront aberrometry analysis to compare HOAs and their impact on visual quality. RESULTS: A total of 150 eyes from 76 patients were included in the analysis. The PBKC group consisted of 50 eyes and the control group of 100 healthy eyes. Mean age was 10.39 ± 3.81 years for the PBKC group and 10.80 ± 3.61 years for the controls. Mean corrected-distance visual acuity (CDVA) was 0.24 ± 0.21 logMAR in the PBKC group and 0.07 ± 0.1 in the controls (P < 0.001). Mean astigmatism was 1.6 ± 1.98D in the PBKC group vs. 0.67 ± 0.76D in the control group (P = 0.01). Mean RMS of HOAs was 1.05 ± 1.7mm in the PBKC group and 0.41 ± 0.18mm in the controls (P < 0.001). The mean modulation transfer function (MTF) in the PBKC group was significantly lower (16.37 ± 16.32) than controls (30.3 ± 23.57) (P < 0.001). Corneal leukomas, stromal vascularization, peripheral nummular subepithelial scars, and pannus formation are associated with increased HOAs. CONCLUSIONS: There was a significant increase in total HOAs of eyes with PBKC compared to healthy controls. Corneal opacity, vascularization, and scarring are associated with increased HOAs. The PBKC eye aberration profile: coma, secondary astigmatism, quadrafoil, and pentafoil, were associated with decreased CDVA and visual quality (PSF and MTF).

Individualized Housing Modifies the Immune-Endocrine System in CD1 Adult Male Mice.

In the last years, different research groups have made considerable efforts to improve the care and use of animals in research. Mice (Mus musculus) are the most widely used animal species in research in the European Union and are sociable and hierarchical creatures. During experiments, researchers tend to individualize males, but no consideration is given to whether this social isolation causes them stress. The aim of this study was, therefore, to explore whether 4 weeks of social isolation could induce changes in different physiological parameters in adult Crl:CD1(ICR) (CD1) males, which may interfere with experimental results. Body weight, blood cells, and fecal corticosterone metabolites levels were the analyzed parameters. Blood and fecal samples were collected at weeks 1 and 4 of the experimental procedure. Four weeks of single housing produced a significant time-dependent decrease in monocytes and granulocytes. Fecal corticosterone metabolite levels were higher in single-housed mice after 1 week and then normalized after 4 weeks of isolation. Body weight, red blood cells, and platelets remained unchanged in both groups during this period. We can, therefore, conclude that social isolation affects some immune and endocrine parameters, and that this should be taken into account in the interpretation of research data.

Technology-Facilitated Abuse Against Women From Culturally and Linguistically Diverse Backgrounds: A Scoping Review of the Literature.

Women from culturally and linguistically diverse (CALD) backgrounds are particularly vulnerable to domestic and family violence, including technology-facilitated abuse. Often CALD women depend on technology to connect with support networks in their home country. Technology-facilitated abuse can be devastating and isolating. There is limited comprehensive knowledge of how technology-facilitated abuse is experienced by CALD women. This scoping review addresses this gap by exploring and analysing the available literature on technology-facilitated abuse amongst CALD women in the context of domestic and family violence. Employing a scoping review methodology, a total of nine studies were identified from a database search and other sources (including snowball, web search, and search verification processes). Studies were included if they contained the following three elements: (1) a focus on technology-facilitated abuse, (2) the inclusion of CALD women's experiences, and (3) a context of domestic and family violence (DFV). This review firstly maps the methodologies and characteristics of the studies. Second, the most common types of technology-facilitated abuse that disproportionally affect CALD women are identified together with culturally related help-seeking barriers. Areas for future research are discussed along with suggestions for improving practises and policies for prevention and intervention.

Postweaning Grouping as a Strategy to Reduce Singly Housed Male Mice.

Rearing laboratory mice in groups is important since social isolation after weaning induces brain alterations, which entails behavioral abnormalities in adulthood. Age is an important factor when grouping males of different litters due to inter-male aggressiveness. The aim of this study was to determine whether newly weaned mice could safely be grouped with late juvenile or early and late pubescent mice, and whether cage cleaning, the number of the hosting group members and testosterone plasma levels have any influence. Newly weaned C57BL/6J, CD1, and SCID Beige male mice were systematically grouped with same strain late juvenile, early or late pubescent male mice in clean or dirty cages of 1, 2 or 3 hosting members. We also analyzed plasma testosterone levels at different postnatal days. Our result showed that only strain and hosting male's age influence agonistic behavior toward newly weaned mice. Thus, in order not to house a recently weaned male alone, we would recommend grouping it with late juvenile same strain mice in all studied strains. In the same way, CD1 and SCID Beige pubescent mice will admit a newly weaned mouse in their group. However, we would not recommend grouping newly weaned and pubescent C57BL/6J males.

Traumatismo de pene en el Hospital Domingo Luciani / Penis trauma in the Hospital Domingo Luciani

Conocer la incidencia, etiología, diagnóstico y tratamiento de los traumatismos en el pene. Se realizó un trabajo descriptivo retrospectivo en los archivos médicos del Hospital General del Este Dr. Domingo Luciani, desde 1987 a diciembre de 2004. Los datos fueron analizados porcentualmente. Se encontraron 79 pacientes con traumatismos en el pene, el grupo etario de 20 a 29 años fue el más afectado. El 75,94 por ciento de las lesiones fueron causadas por proyectil de arma de fuego, el resto por contusiones. El 94,93 por ciento se presentó con hematoma peneano, el 27,84 por ciento con uretrorragia y el 15,18 por ciento con hematoma perineal. Sólo a 12 pacientes se les realizaron estudios imagenológicos. El 77,21 por ciento de los pacientes se llevó a mesa quirúrgica, con un promedio de tiempo entre la llegada al hospital y la resolución quirúrgica de 6 horas. Se realizó fimosectomía a 5 pacientes, reparación de cuerpos cavernosos a 35, drenaje de hematoma y cura compresiva a 46 y cistostomía a 41. Solo un paciente presentó infección de la herida operatoria y 3 disfunción eréctil en el Postoperatorio. La reparación temprana garantiza la oportunidad de recobrar completamente una buena función eréctil y disminuye la rata de complicaciones

Cálculo coraliforme: diagnóstico y manejo, experiencia de 10 años en el Hospital Dr. Domingo Luciani / Calculation diagnostic coraliforme and handling 10 year-old experience in the Hospital Dr. Domingo Luciani

Los Cálculos de Estruvita o de triple fosfato, son formados por microorganismos que desdoblan la urea, conllevando a una pérdida de la función renal progresiva y a la muerte al 28 por ciento de los casos. El principal agente etiológico en el P. mirabilis, seguido de E. coli y U. urealyticum. La clínica se presenta generalmente con dolor lumbar, fiebre, debilidad general y pielonefritis. El tratamiento médico consiste en antibioticoterapia, bicarbonato de Na y K, D-penicilaminas, y otros. Entre las opciones quirúrgicas se cuenta con nefrolitotomía abierta, litotripsia extracorpórea, procedimientos percutáneos, endourológicos y mixtos. En vista de escasez de datos estadísticos en Venezuela se plantea la revisión retrospectiva del manejo de los pacientes con cálculos de estruvita que acudieron al Hospital "Dr. Domingo Luciani" en el período 1991-2001. Los resultados fueron el rango de edad más afectado estuvo entre los 46 a 55 años, siendo más frecuente en el sexo femenino con 61 por ciento, en el tiempo de evolución se destacan los rangos extremos: menores de 6 meses y más de 5 años. El 100 por ciento acudió por dolor lumbar: El riñón derecho e izquierdo tuvieron cálculos en 13 casos cada uno y 10 pacientes fueron afectados en forma bilateral. El exámen de orina tuvi infección en 21 pacientes se realizaron Urotac. En cuento al tratamiento quirúrgico se realizaron 6 nefrectomías totales, 8 pielolitotomías, 1 polectomía inferior, 9 nefrolitotomías, 12 pacientes resueltos de manera percutánea de los cuales 2 ameritaron litotripsia endoscópica posteriormente. Sólo 3 pacientes se resolvieron como emergencias siendo el promedio de hospitalización de 15 días con un rango de 2 a 90 días. La complicación más frecuente fue la hemorragia en el 12 por ciento de los casos. Queda demostrado el rol de las infecciones urinarias en la formación de cálculos de estruvita, así como la pérdida progresiva en la función renal. Se constata que el método más rápido y menos mórbido para la resolución quirúrgica del paciente son los procedimientos percutáneos, aún cuando sólo se realizaron en el 33 por ciento de los casos estando publicado internacionalmente resoluciones del 70 al 80 por ciento. Se evidencia el retraso en la resolución quirúrgica debido a la resolución de sólo 3 casos ppor emergencia con un lato promedio de hospitalización, a pesar de esto las complicaciones presentadas se equiparan a otros centros en el ámbito mundial

Trauma infanto juvenil / Trauma children and adolescents

Presentamos una revisión retrospectiva de los traumatismos en los menores de 18 años en el Hospital "Leopoldo Manrique" entre los años de 1981 a 1991, con el objeto de evaluar este problema de salud pública. Durante este lapso, 231 casos fueron operados por el Servicio de Cirugía, con predominio evidente del sexo masculino; 134 pacientes presentaron heridas por arma de fuego. Las lesiones abdominales fueron las más frecuentes (1991 pacientes), aun cuando muchos pacientes presentaron lesiones multisistémicas. Las vísceras huecas, hígado y vasos fueron la estructuras más comunmente lesionadas. La mortalidad de acuerdo al agente agresor fue de 119 por arma de fuego, cuarenta y nueve por accidentes de tránsito, veintiocho con armas blancas y sesenta y nueve por otras causas diferentes