[Physiological assessment and management of post-COVID patients with normal cardiopulmonary imaging and functional tests]. / Valoración fisiológica y manejo de pacientes post-COVID con pruebas funcionales cardiopulmonares y de imagen normales.

OBJECTIVE: Contributing to elucidate the pathophysiology of dyspnoea and exertion intolerance in post-COVID syndrome patients with normal cardiopulmonary imaging and functional tests at rest, while determining their fitness and level of endurance in order to individualize working parameters for physical rehabilitation. MATERIAL AND METHODS: After an anamnesis and clinical examination at rest, 27 subjects (50±11.9 years) (14 women) with post-COVID syndrome of more than 6 months of evolution performed a continuous maximal-incremental graded cardiopulmonary exercise test (CPET) with breath-by-breath gas-exchange monitoring and continuous ECG registration, on an electromagnetically braked cycle ergometer. The values obtained were compared with those of reference, gender or controls, using the Chi-square, t-Student or ANOVA test. RESULTS: The clinical examination at rest and the CPET were clinically normal and without adverse events. Reasons for stopping exercise were leg discomfort. It is only worth noting a BMI=29.9±5.8kg/m2 and a basal lactate concentration of 2.1±0.7mmol/L. The physiological assessment of endurance showed the following results relative to predicted VO2máx: 1)peakVO2=80.5±18.6%; 2)VO2 at ventilatory threshold1 (VO2VT1): 46.0±12.9%; 3)VO2VT2: 57.2±16.4%; 4)working time in acidosis: 5.6±3,0minutes; and 5)maximum lactate concentration: 5.1±2.2mmol/L. CONCLUSIONS: The CPET identified limited aerobic metabolism and early increase in glycolytic metabolism as causes of dyspnoea and exercise intolerance, determined fitness for physical rehabilitation, and individualized it based on the level of endurance.

Air pollution and meteorological variables' effects on COVID-19 first and second waves in Spain.

The aim of this research is to study the influence of atmospheric pollutants and meteorological variables on the incidence rate of COVID-19 and the rate of hospital admissions due to COVID-19 during the first and second waves in nine Spanish provinces. Numerous studies analyze the effect of environmental and pollution variables separately, but few that include them in the same analysis together, and even fewer that compare their effects between the first and second waves of the virus. This study was conducted in nine of 52 Spanish provinces, using generalized linear models with Poisson link between levels of PM10, NO2 and O3 (independent variables) and maximum temperature and absolute humidity and the rates of incidence and hospital admissions of COVID-19 (dependent variables), establishing a series of significant lags. Using the estimators obtained from the significant multivariate models, the relative risks associated with these variables were calculated for increases of 10 µg/m3 for pollutants, 1 °C for temperature and 1 g/m3 for humidity. The results suggest that NO2 has a greater association than the other air pollution variables and the meteorological variables. There was a greater association with O3 in the first wave and with NO2 in the second. Pollutants showed a homogeneous distribution across the country. We conclude that, compared to other air pollutants and meteorological variables, NO2 is a protagonist that may modulate the incidence and severity of COVID-19, though preventive public health measures such as masking and hand washing are still very important. Supplementary Information: The online version contains supplementary material available at 10.1007/s13762-022-04190-z.

Engraftment after autologous hematopoietic stem cell transplantation in patients mobilized with Plerixafor: A retrospective, multicenter study of a large series of patients.

Plerixafor (PLX) appears to effectively enhance hematopoietic stem-cell mobilization prior to autologous hematopoietic stem cell transplantation (auto-HCT). However, the quality of engraftment following auto-HCT has been little explored. Here, engraftment following auto-HCT was assessed in patients mobilized with PLX through a retrospective, multicenter study of 285 consecutive patients. Information on early and 100-day post-transplant engraftment was gathered from the 245 patients that underwent auto-HCT. The median number of PLX days to reach the stem cell collection goal (≥2 × 106 CD34+ cells/kg) was 1 (range 1-4) and the median PLX administration time before apheresis was 11 h (range 1-18). The median number of apheresis sessions to achieve the collection goal was 2 (range 1-5) and the mean number of CD34+ cells collected was 2.95 × 106/kg (range 0-30.5). PLX administration was safe, with only 2 mild and transient gastrointestinal adverse events reported. The median time to achieve an absolute neutrophil count (ANC) >500/µL was 11 days (range 3-31) and the median time to platelet recovery >20 × 103/µL was 13 days (range 5-69). At 100 days after auto-HCT, the platelet count was 137 × 109/L (range 7-340), the ANC was 2.3 × 109/L (range 0.1-13.0), and the hemoglobin concentration was 123 g/L (range 79-165). PLX use allowed auto-HCT to be performed in a high percentage of poorly mobilized patients, resulting in optimal medium-term engraftment in the majority of patients in whom mobilization failed, in this case mainly due to suboptimal peripheral blood CD34+ cell concentration on day +4 or low CD34+ cell yield on apheresis.

Monte Carlo simulation of the radiation transport in chromium compensated gallium arsenide detectors / Simulación por Monte Carlo del transporte de las radiaciones en detectores dearseniuro de galio compensado con cromo

Abstract Some results obtained with the use of Monte Carlo mathematical simulation of radiation transport in Timepix hybrid detectors based on chromium compensated gallium arsenide are presented in this contribution. The MCNPX, GEANT4, SRIM and MCCM code systems were used for this purpose. The in-depth profiles of the deposited energy by the incident photons within the sensor active volume, the shapes and dimensions of the generated charge carriers clouds for different incident energies and specific geometrical conditions were obtained and presented. The 22Ne ions ranges in the target material for two different energies and the contributions of each energy loss channel were also determined. Finally, for a selected detector irradiated with photons of different energies, the displacement cross sections for each chemical element in the active material, as well as the number of displacements per atoms produced for each atomic species were calculated.

Resumen En este trabajo se presentan algunos de los resultados obtenidos con el uso de la modelación matemática por Monte Carlo del transporte de radiación en detectores híbridos Timepix basados en el arseniuro de galio compensado con cromo. Se emplearon para este propósito los sistemas de códigos MCNPX, GEANT4, SRIM y MCCM. Fueron obtenidos los perfiles en profundidad de la energía depositada por la radiación incidente dentro del volumen activo del sensor, las formas y dimensiones de las nubes de portadores de cargas generados por fotones incidentes de diferentes energías y condiciones geométricas específicas. También se determinaron los alcances de los iones de 22Ne de dos energías diferentes en el material blanco y las contribuciones de cada canal de pérdida de energía. Finalmente, para un detector seleccionado irradiado con fotones de diferentes energías se calcularon las secciones eficaces de desplazamiento para cada elemento químico en el material activo, así como el número de desplazamientos por átomos producidos para cada especie atómica.

Genetics of hypertrophic cardiomyopathy: A review of current state.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in 1 of 8 sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants. Young patients with severe phenotype and other clinical features are included in proposed scores for prediction of high positive genetic result. The number of genes reported as disease-causing has increased in the last few years, in some cases without robust evidence. Currently available in silico tools are not always useful for differentiation between benign and deleterious variants. There is enough information on genotype-phenotype correlations to start understanding the mechanisms of the disease. Genetic and environmental modifiers have been explored with some interesting insights from miRNA studies with potential as biomarkers and therapeutic agents. There is an additional value of genetic testing in HCM for prognosis. Knowledge about genetics and functional studies are the basis of near future therapies.

Prevalencia y duración de la lactancia materna en el medio rural / Prevalence and nutritional of maternal breastfeeding in the rural setting

Introducción y objetivos. A pesar del reconocimiento generalizado de los beneficios de la lactancia materna para la madre y el recién nacido en la mayoría de países no se alcanzan los niveles deseados El objetivo de este trabajo es evaluar la prevalencia, duración y motivos de abandono de la lactancia materna en un medio rural. Métodos. Se realizó un estudio prospectivo observacional durante un año de todos los recién nacidos en el hospital comarcal de Alcañiz, que se complementó con una encuesta sobre las características de la lactancia durante los primeros meses para rellenar y entregar por el pediatra o médico de familia de Atención Primaria. Resultados. Durante el periodo a estudio hubo 456 recién nacidos. Iniciaron lactancia materna el 96,9% de los neonatos, el 26.5% recibieron suplementos (por indicación médica o por petición de los padres). Al alta, el 84,7% se fueron con lactancia materna exclusiva. La duración media de la lactancia materna fue de cuatro meses y medio con una media de inicio de lactancia artificial a los dos meses y medio. El motivo más frecuente de abandono fue la decisión materna (44,5%). Conclusiones. Tenemos resultados muy positivos en cuanto al inicio de la lactancia materna, pero debemos seguir trabajando en la formación de los profesionales sanitarios y en la información a los padres para el mantenimiento de esta y en las causas de abandono, siendo estas la mayor parte de las veces modificables (AU)

Introduction and objectives. Despite of the knowledge of the benefits of breastfeeding for the mother and newborn, in most countries the desired levels are not reached. The objective of this study is to evaluate the prevalence, duration and reasons for abandoning breastfeeding in a rural setting. Methods. A prospective observational study was conducted for one year of all newborns in the hospital of Alcañiz, which was complemented by a survey on the characteristics of breastfeeding during the first months to be filled in and delivered by the paediatrician of primary care. Results. During the study period there were 456 new-borns. 96.99% of newborns started breastfeeding, 26.5 received supplements (either by medical indication or at the request of the parents). At discharge, 84.7% went on exclusive breastfeeding. The mean duration of breastfeeding was four and a half months with a mean of initiation of artificial breastfeeding at two and a half months. The most frequent reason for abandonment was the internal decision (44.5%). Conclusions. We have very positive results looking the initiation of breastfeeding, but we must continue working in the training of health professionals and in the information given to parents for promote the maintenance of this and decrease the reasons of abandonment, most of times modifiable (AU)

Síndrome Cri du Chat: a propósito de un caso. Características clínicas y evolutivas / Cri du Chat Syndrome: a case report. Clinical and evolutive characteristics

El síndrome Cri du Chat tiene una incidencia de 1/15.000—1/50.000 y es debido a una delección del cromosoma 5p. Los individuos afectos presentan un fenotipo especial, discapacidad intelectual, retraso del lenguaje junto con un llanto agudo característico en las primeras tapas de su vida, si bien, hay una variabilidad clínica según la extensión y localización de la delección. Es muy portante iniciar una terapia rehabilitadora precozmente ara mejorar sus capacidades de aprendizaje y comunicación y así mejorar su calidad de vida. Se presenta el caso 6 un lactante con sospecha clínica del síndrome al nacimiento confirmándose en el estudio genético. Se describen los aspectos clínicos y evolutivos más característicos del síndrome (AU)

The Cri du Chat syndrome has an incidence of 1/15,000 - 1/50,000 and is caused by a deletion of the chromosome 5p. Affected individuals have a special phenotype, intellectual disability, language delay and a characteristic acute cry in the early stages of their life, although there is a clinical variability according to the extent and location of the deletion. It is very important to begin rehabilitation therapy early to improve learning and communication skills and thus improve quality of life. We report the case of an infant with clinical suspicion of the syndrome at birth that was confirmed by genetic testing. We describe the most characteristic clinical and evolutionary aspects of the syndrome (AU)

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy.

Luxación congénita de rodilla: a propósito de 2 casos / Congenital dislocation of the knee: Report of 2 cases

La luxación congénita de rodilla (LCR) es una patología muy poco frecuente cuyo diagnóstico se realiza al nacimiento por los hallazgos clínicos, confirmándose radiológicamente. Se ha relacionado con diversas etiologías, desde malas posiciones fetales intraútero hasta trastornos genéticos. El pronóstico dependerá del inicio precoz del tratamiento y de la asociación de otras anomalías congénitas. Presentamos 2 nuevos casos de LCR observados en nuestro hospital en el período de un mes, diagnosticados en los primeros momentos tras el nacimiento, ambos con buena evolución clínica

Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome

A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of malignant arrhythmia and sudden death particularly in young people. Although it is considered a desmosomal disease, mutations in non-desmosomal genes have also been identified. We report on a family where a mutation in LDB3 is associated with this condition. The index case and first and second degree relatives underwent a complete clinical evaluation: physical examination, electrocardiography (ECG), signal-averaged ECG, 2D echocardiogram, cardiac magnetic resonance and 24-h monitoring. After ruling out mutations in the five desmosomal genes, genetic testing by means of Next Generation Sequencing was carried out on the proband. A heterozygous missense mutation in LDB3 c.1051A>G was identified. This result was confirmed by subsequent Sanger DNA sequencing. Another six carriers were identified amongst her relatives. Three subjects fulfilled the criteria for a definitive diagnosis of ARVC and one reached a borderline diagnosis. In conclusion, this is the first family with ARVC where a mutation in LDB3 is associated with ARVC. Next generation sequencing arises as a particular useful tool to point to new causative genes in ARVC.

Parafilm-assisted microdissection: a sampling method for mass spectrometry-based identification of differentially expressed prostate cancer protein biomarkers.

Mass spectrometry-based methods for prostate cancer biomarker discovery are hampered by their low-throughput capabilities because of extensive sample preparation. We present the parafilm-assisted microdissection technique coupled with label-free quantification and bioinformatics analysis as a means to evaluate directly protein expression changes on benign and tumor regions.

[Congenital dislocation of the knee: report of 2 cases]. / Luxación congénita de rodilla: a propósito de 2 casos.

Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome.

Commissioning and initial experience with a commercial software for in vivo volumetric dosimetry.

INTRODUCTION AND PURPOSE: Dosimetry Check (DC) (Math Resolutions) is a commercial EPID-based dosimetry software, which allows performing pre-treatment and transit dosimetry. DC provides an independent verification of the treatment, being potentially of great interest due to the high benefits of the in vivo volumetric dosimetry, which guarantee the treatment delivery and anatomy constancy. The aim of this work is to study the differences in dose between DC and the Treatment Planning System (TPS) to establish an accuracy level of the system. MATERIAL AND METHODS: DC v.3.8 was used along with Varian Clinac iX accelerator equipped with EPID aS1000 and Eclipse v.10.0 with AAA and Acuros XB calculation algorithms. The DC evaluated version is based on a pencil beam calculation algorithm. Various plans were generated over several homogeneous and heterogeneous phantoms. Isocentre point doses and gamma analysis were evaluated. RESULTS: Total dose differences at the isocentre between DC and TPS for the studied plans are less than 2%, but single field contributions achieve greater values. In the presence of heterogeneities, the discrepancies can reach up to 15%. In transit mode, DC does not consider properly the couch attenuation, especially when there is an air gap between phantom and couch. CONCLUSIONS: The possibility of this in vivo evaluation and the potentiality of this new system have a very positive impact on improving patient QA. But improvements are required in both calculation algorithm and integration with the record and verify system.

Estudio de las enfermedades de las trompas de Falopio mediante resonancia magnética / Fallopian tube disease on magnetic resonance imaging

Conocer las enfermedades de las trompas de Falopio es esencial para valorar la pelvis ginecológica. Las alteraciones primarias y secundarias de las trompas, cursen o no con alteraciones ováricas asociadas, son muy variadas. Pese a que la ecografía, por su gran sensibilidad y disponibilidad, es la técnica inicial para estudiar las alteraciones anexiales, la RM es muy útil en el diagnóstico de las enfermedades tubáricas porque su elevada resolución tisular y el detalle anatómico que proporciona le confieren una mayor especificidad. Los hallazgos morfológicos y las características del contenido tubárico con la RM posibilitan un diagnóstico más preciso o limitan el diagnóstico diferencial y permiten orientar el tratamiento más adecuado en cada caso(AU)

Knowledge about fallopian tube disease is essential in the assessment of the pelvis in female patients. Primary and secondary changes in the tubes vary widely, regardless of whether associated changes in the ovaries are present. Ultrasonography is the initial technique in the study of adnexal disease because it is very sensitive and widely available; however, MRI is also very useful in this context because its high tissue resolution and anatomic detail make it more specific. The morphologic findings and the characteristics of the contents of the tubes on MRI enable a more accurate diagnosis or limit the differential diagnosis, helping to ensure that the most appropriate treatment is provided in each case(AU)

Percepciones de pacientes y profesionales sanitarios sobre la calidad de la atención a personas diabéticas / Patient and health professional perceptions on the quality of care provided to diabetic patients

Objetivo. Describir la percepción y el conocimiento de pacientes y profesionales sanitarios (PS) sobre los factores que influyen en la calidad y continuidad asistencial de los cuidados prestados en atención primaria a personas diabéticas. Material y métodos. Estudio cualitativo de trayectoria fenomenológica. Participantes: profesionales médicos y de enfermería que trabajan en diferentes centros de atención primaria de Zaragoza y pacientes con diabetes atendidos en esos centros. Entre febrero y marzo de 2010 se realizaron 2 entrevistas grupales (grupos de discusión) y 6 individuales. Se siguió un guión preestablecido con las variables a explorar. Resultados. Los pacientes y profesionales entrevistados identificaron dificultades para asumir la diabetes como una enfermedad crónica. Se observaron como factores relacionados con problemas en el cambio de hábitos y estilos de vida el sexo (las mujeres mostraron mayores dificultades para el cambio), el tipo de trabajo y la situación de actividad laboral. Por parte de los profesionales entrevistados, se identificaron como factores favorecedores la existencia de guías y protocolos y la motivación personal, y como factores que dificultan la asistencia, la falta de tiempo y los sistemas de información existentes. Hay discrepancias entre los profesionales respecto al papel de grupos de pacientes y asociaciones. Conclusiones. En el diseño de intervenciones para la modificación de estilos de vida de los pacientes diabéticos se deben tener en cuenta las dificultades para el cambio ligadas al sexo y la situación laboral de los pacientes(AU)

Objective. To describe the knowledge and perceptions of patients and health professionals on the factors that influence the quality and continuity of care of diabetic patients provided in Primary Care. Material and methods. A qualitative study using a phenomenological perspective. Participants. Medical and nursing professionals working in Primary Care Centres in the city of Zaragoza, and patients with diabetes mellitus attended in the same centres. Two group (focus group) and 6 individual interviews were carried out in February and March 2010. A predetermined script, with the variables to explore, was used. Results. The patients and health professionals interviewed identified problems in assuming diabetes as a chronic disease. Among the factors related to success in changing habits and lifestyles, were gender (women showed greater difficulties to change), type of job and work situation. Health professionals identified the availability of guidelines and protocols, and personal motivation as factors that work in favour; and lack of time and current information systems as factors that hamper the provision of good quality care. There were discrepancies among health professionals as regards the role played by patient groups and associations. Conclusions. It is important to take into account the factors that make changes in habits and lifestyles difficult, such as gender and the employment situation, when designing actions aimed at modifying risk factors in diabetic patients(AU)