NFKB1 variants were associated with the risk of Parkinson´s disease in male.

The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes were associated with the risk of PD. A total of 532 Spanish PD cases (61% male; 38% early-onset, ≤ 55 years) and 300 population controls (50% ≤55 years) were genotyped for the NFKB1 rs28362491 and rs7667496, NFKBIA rs696, and NFKBIZ rs1398608 polymorphisms. We compared allele and genotype frequencies between early and late-onset, male and female, and patient's vs. controls. We found that the two NFKB1 alleles were significantly associated with PD in our population (p = 0.01; total patients vs. controls), without difference between Early and Late onset patients. The frequencies of the NFKB1 variants significantly differ between male and female patients. Compared to controls, male patients showed a significantly higher frequency of rs28362491 II (p = 0.02, OR = 1.52, 95%CI = 1.10-2.08) and rs28362491 C (p = 0.003, OR = 1.62, 95%CI = 1.18-2.22). The two NFKB1 variants were in strong linkage disequilibrium and the I-C haplotype was significantly associated with the risk of PD among male (p = 0.002). In conclusion, common variants in the NF-kB genes were associated with the risk of developing PD in our population, with significant differences between male and female. These results encourage further studies to determine the involvement of the NF-kB components in the pathogenesis of Parkinson´s disease.

Vacunación antineumocócica: situación actual / Pneumococcal vaccination: current status

Las infecciones por Streptococcus pneumoniae originan una importante morbilidad y mortalidad. Entre las personas más susceptibles a su desarrollo se encuentran las de mayor edad, los pacientes inmunodeprimidos y aquellos con comorbilidad, pudiendo presentar además una mayor gravedad y una evolución más desfavorable. Las pautas de vacunación frente al neumococo tienen como objetivo disminuir la incidencia de estas infecciones. Las recomendaciones para ello han ido cambiando a lo largo de los años. La reciente aprobación de la vacuna neumocócica conjugada 20-valente simplifica la pauta previa, al unificar las indicaciones de vacunación en población adulta a partir de los 60 años con y sin factores predisponentes, así como en menores de 60 años con condiciones de riesgo. Está autorizada para mayores de 18 años, por lo que en menores se mantiene la pauta previa: a) si no hay factores ni condiciones de riesgo, se indican tres dosis de vacuna neumocócica conjugada 13 o 15-valente a los 2, 4 y 11 meses; b) si existen factores o condiciones de riesgo, a partir de los 2 años de edad puede ser necesario asociar la vacuna neumocócica de polisacáridos de 23 serotipos. (AU)

Streptococcus pneumoniae infections cause significant morbidity and mortality. Among the people most susceptible to infections are the elderly, immunosuppressed patients, and those with comorbidities, presenting a greater severity and a more unfavorable condition. Vaccination guidelines against pneumococcus aim to reduce the incidence of these infections, whose recommendations have changed over the years. The recent approval of the 20-valent conjugate pneumococcal vaccine simplifies the previous regimen, by unifying the indications for vaccination in the adult population aged 60 years and older with and without predisposing factors, as well as in those aged under 60 years with conditions of risk. It is authorized for the individuals aged over 18 years, so the previous regimen has been maintained in minors: a) if there are no risk factors or conditions, three doses are indicated: 13- or 15-valent pneumococcal conjugate vaccine at 2, 4, and 11 months and b) if there are risk factors or conditions, it may be necessary to associate the 23 serotypes pnemococcal polysaccharide vaccine from 2 years of age. (AU)

High-flow nasal cannula for Acute Respiratory Distress Syndrome (ARDS) due to COVID-19.

INTRODUCTION: High-flow nasal cannula oxygen therapy (HFNC) has been shown to be a useful therapy in the treatment of patients with Acute Respiratory Distress Syndrome (ARDS), but its efficacy is still unknown in patients with COVID-19. Our objective is to describe its utility as therapy for the treatment of ARDS caused by SARS-CoV-2. METHODS: A retrospective, observational study was performed at a single centre, evaluating patients with ARDS secondary to COVID-19 treated with HFNC. The main outcome was the intubation rate at day 30, which defined failure of therapy. We also analysed the role of the ROX index to predict the need for intubation. RESULTS: In the study period, 196 patients with bilateral pneumonia were admitted to our pulmonology unit, 40 of whom were treated with HFNC due to the presence of ARDS. The intubation rate at day 30 was 52.5%, and overall mortality was 22.5%. After initiating HFNC, the SpO2/FiO2 ratio was significantly better in the group that did not require intubation (113.4±6.6 vs 93.7±6.7, p=0.020), as was the ROX index (5.0±1.6 vs 4.0±1.0, p=0.018). A ROX index less than 4.94 measured 2 to 6 h after the start of therapy was associated with increased risk of intubation (HR 4.03 [95% CI 1.18 - 13.7]; p=0.026). CONCLUSION: High-flow therapy is a useful treatment in ARDS in order to avoid intubation or as a bridge therapy, and no increased mortality was observed secondary to the delay in intubation. After initiating HFNC, a ROX index below 4.94 predicts the need for intubation.

Assessment of Two Nutritional Screening Tools in Hospitalized Children.

AIM: to evaluate validity and concordance of Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP) and Screening Tool for Risk On Nutritional status and Growth (STRONGkids) screening tools for assessment of nutritional risk in pediatric inpatients. METHODS: Prospective longitudinal observational multicenter study in children aged 1 month or older admitted as inpatients. Weight, height, cause of admission, demographic data, length of stay, and nutritional interventions were recorded. STAMP and STRONGkids were applied within the first 72 h of admission. Anthropometric measurements were recorded again 12-18 months after admission. RESULTS: Eighty-one patients with median age of 4.1 years completed the study. Agreement between tools was moderate (κ = 0.47). STAMP had a greater tendency to classify patients as high risk (12.3% vs. 2.5%). Both tools showed very weak correlation with height for age. All undernourished patients at the beginning and the end of the study were classified as medium or high risk by STAMP and STRONGkids (100% sensitivity), although specificity was below 50% in all cases. There were no differences in length of stay based on nutritional risk with any of the tools. CONCLUSIONS: STAMP and STRONGkids demonstrated moderate agreement, with high sensitivity but low specificity for the diagnosis of undernutrition. Further studies are required to analyze cost-effectiveness of these tools and nutritional interventions derived from them.

[Nontraumatic medical emergencies in mountain rescues]. / Utilidad de la ecografi ́a en urgencias: el protocolo RUSH.

OBJECTIVES: To describe the clinical and epidemiologic characteristics of patients with nontraumatic medical problems rescued by a Spanish mountain emergency response service (061 Aragon). MATERIAL AND METHODS: Retrospective observational analysis of records of mountain rescues completed between July 2010 and December 2016. RESULTS: A total of 164 patients with nontraumatic medical emergencies were rescued; 82.3% were males. Most patients were between the ages of 50 and 59 years. Environmentally related problems, most often hypothermia, accounted for 36.6% of the emergencies. Cardiac problems led to 20.7% and digestive problems to 12.8%. Eighty-two percent of the patients were hiking or engaged in general mountain activities (other than rock climbing, canyoning, hunting, or skiing). CONCLUSION: Recent years have seen a rise in the number of patients requiring rescue from mountains for nontraumatic medical emergencies, particularly heart problems. The typical patient to expect would be a man between the ages of 50 and 59 years who is hiking in the summer.

OBJETIVO: Describir las características clínico-epidemiológicas de los pacientes rescatados por la unidad de rescate de montaña del 061 de Aragón que presentaron patologías médicas no traumáticas. METODO: Estudio observacional retrospectivo de los rescates de montaña realizados entre julio de 2010 y diciembre de 2016. RESULTADOS: Se analizaron 164 pacientes con patología médica de origen no traumático durante el rescate (82,3% varones). El intervalo de edad más frecuente fue de 50 a 59 años. El 36,6% presentaban patologías relacionadas con el medio, siendo la hipotermia la más frecuente. El 20,7% fue patología cardiaca y el 12,8% fueron problemas digestivos. La actividad practicada por los pacientes fue el senderismo/montañismo en un 82% de las ocasiones. CONCLUSIONES: Se observa un aumento del número de pacientes rescatados con patología médica no traumática en los últimos años, y destaca el aumento de problemas cardiacos. El paciente tipo esperable sería un varón de entre 50 y 59 años practicando senderismo en época estival.

Patología médica no traumática en pacientes rescatados en montaña / Nontraumatic medical emergencies in mountain rescues

Objetivo. Describir las características clínico-epidemiológicas de los pacientes rescatados por la unidad de rescate de montaña del 061 de Aragón que presentaron patologías médicas no traumáticas. Método. Estudio observacional retrospectivo de los rescates de montaña realizados entre julio de 2010 y diciembre de 2016. Resultados. Se analizaron 164 pacientes con patología médica de origen no traumático durante el rescate (82,3% varones). El intervalo de edad más frecuente fue de 50 a 59 años. El 36,6% presentaban patologías relacionadas con el medio, siendo la hipotermia la más frecuente. El 20,7% fue patología cardiaca y el 12,8% fueron problemas digestivos. La actividad practicada por los pacientes fue el senderismo/montañismo en un 82% de las ocasiones. Conclusiones. Se observa un aumento del número de pacientes rescatados con patología médica no traumática en los últimos años, y destaca el aumento de problemas cardiacos. El paciente tipo esperable sería un varón de entre 50 y 59 años practicando senderismo en época estival (AU)

Objective. To describe the clinical and epidemiologic characteristics of patients with nontraumatic medical problems rescued by a Spanish mountain emergency response service (061 Aragon). Methods. Retrospective observational analysis of records of mountain rescues completed between July 2010 and December 2016. Results. A total of 164 patients with nontraumatic medical emergencies were rescued; 82.3% were males. Most patients were between the ages of 50 and 59 years. Environmentally related problems, most often hypothermia, accounted for 36.6% of the emergencies. Cardiac problems led to 20.7% and digestive problems to 12.8%. Eighty-two percent of the patients were hiking or engaged in general mountain activities (other than rock climbing, canyoning, hunting, or skiing). Conclusion. Recent years have seen a rise in the number of patients requiring rescue from mountains for nontraumatic medical emergencies, particularly heart problems. The typical patient to expect would be a man between the ages of 50 and 59 years who is hiking in the summer (AU)

Cerebral air embolism after ERCP.

Digestive endoscopic procedures have become increasingly common diagnostic and therapeutic procedures in hospitals. Generally they are safe procedures and complications, though infrequent, can occur and are potentially lethal. As the number of procedures performed increases, the complications arising are likely to become more frequent, so it is advisable to bear this in mind when establishing early diagnosis and treatment. Cerebral air embolism is a rare complication after a digestive endoscopic procedure, although in the case of endoscopic retrograde cholangiopancreatography (ERCP), may be as high as 10%. In such cases there are usually local circumstances exist favoring the entry of air into the bloodstream, and in some cases it is the presence of a patent foramen ovale that favors the passage of air into the arterial system. The clinical signs and symptoms will depend on the speed and volume of the air infused and on the territory affected, and in some cases the consequences may be fatal.

Retroperitoneal fibrosis with periaortitis: A case report of an unusual form of presentation of granulomatosis with polyangiitis.

Granulomatosis with polyangiitis (GPA) is the name that has been used in recent years for Wegener's granulomatosis. This condition is a systemic inflammatory disease characterised by necrotizing vasculitis that affects small and medium-sized blood vessels (capillaries, arterioles, venules and arteries). The granulomatous inflammation affects the respiratory system; it also commonly affects the kidney and can very rarely affect large vessels such as the aorta and the surrounding retroperitoneal tissue. Early diagnosis and treatment is of vital importance because of the high risk of dissection and of obstruction of retroperitoneal structures. We present the case of a 74-year-old man with a past history of infrarenal abdominal aortic aneurysm. He consulted for abdominal pain. Cavitating pulmonary nodules and retroperitoneal fibrosis with periaortic alterations were detected on computed tomography. Laboratory investigations revealed that the patient was positive for cytoplasmic antineutrophil cytoplasmic antibodies (c-ANCA) and necrotizing granulomas were observed on biopsies of the lung lesions and retroperitoneal tissue. The patient was diagnosed with GPA and treatment was started with glucocorticoids and immunosuppressive agents, which led to a significant clinical and radiological improvement over the following months.