Microangiopatía trombótica

A female patient of 26 years old, with personal pathological history of congenital glaucoma and blindness in the right eye that three days before his admission to “Arnaldo Milian Castro” Hospital began with chills, fever of 39-410°C, universal headache, nausea, projectile vomiting and fetid dark urine, fot those reasons she was admitted in the “Celestino Hernández Robau” Hospital with the presumptive diagnosis of dengue; she evolved bad, so she was sent to “Arnaldo Milian Castro” Hospital with the same symptoms and taking consciousness. On physical examination of the central nervous system, It was appreciated nuchal rigidity ++, bilateral Babinsky, somnolence, disorientation and Glasgow 13/15. An axial computerized tomography was realized that showed hypodense of both thalamuses badly definite, in the midline of both cerebellar hemispheres an image of similar characteristics and III ventricle collapsed. It raised vasculitis with multiple several cerebral infarctions and possible meningoencephalitis and died 26 days admitted. Pathologic findings allowed the diagnosis of damage and multiple organ failure in patient suffering thrombotic microangiopathy.Se trata de una paciente femenina de 26 años de edad, con antecedentes patológicos personales de glaucoma congénito y ceguera del ojo derecho que tres días antes de su ingreso en el Hospital “Arnaldo Milián Castro” comenzó con escalofríos, fiebre de 39-410°C, cefalea universal, náuseas, vómitos en proyectil y orinas oscuras fétidas, razones por las que fue ingresada en el Hospital “Celestino Hernández Robau” con el diagnóstico presuntivo de dengue; evolucionó mal, por lo que fue remitida al Hospital “Arnaldo Milián Castro”, con iguales síntomas y toma de la conciencia. En el examen físico del sistema nervioso central se apreció rigidez nucal ++, Babinsky bilateral, somnolencia, desorientación y Glasgow 13/15. Se le realizó una tomografía axial computadorizada que mostró hipodensidad de ambos tálamos mal definida, en línea media de ambos hemisferios cerebelosos una imagen de similares características y III ventrículo colapsado. Se planteó vasculitis con infartos cerebrales múltiples y posible meningoencefalitis y falleció a los 26 días de ingresada. Los hallazgos anatomopatológicos permitieron el diagnóstico de daño y fallo multiorgánico en paciente que padecía microangiopatía trombótica

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large gene, showing a high number of variants, most of them of uncertain significance. Hence, we initiated a collaborative effort to improve and standardize variant classification for the ATM gene. Methods Six independent laboratories collected information from 766 ATM variant carriers harboring 283 different variants. Data were submitted in a consensus template form, variant nomenclature and clinical information were curated, and monthly team conferences were established to review and adapt American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria to ATM, which were used to classify 50 representative variants. Results Amid 283 different variants, 99 appeared more than once, 35 had differences in classification among laboratories. Refinement of ACMG/AMP criteria to ATM involved specification for twenty-one criteria and adjustment of strength for fourteen others. Afterwards, 50 variants carried by 254 index cases were classified with the established framework resulting in a consensus classification for all of them and a reduction in the number of variants of uncertain significance from 58% to 42%. Conclusions Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.FEDER funds-a way to build Europe PI19/00553 PI16/00563 PI16/01898 SAF2015-68016-RGeneralitat de Catalunya 2017SGR1282 2017SGR496CERCA Program: Government of CataloniaXunta de GaliciaInstituto de Salud Carlos III. AES PI19/00340Spanish Government SAF2016-80255-REuropean Commission EFA086/15Instituto de Salud Carlos III European Commissio

Cryptogenic organizational pneumonia

Paciente masculino de 74 años de edad, con antecedentes patológicos personales de obesidad, hipertensión arterial, diabetes mellitus y bloqueo de rama izquierda del haz de His. Comenzó con disnea y tos seca que no mejoró con el tratamiento impuesto por el médico de familia. Acudió al Cardiocentro “Ernesto Che Guevara” -se le realizaron complementarios: hemoglobina (cifras bajas), creatinina y acido úrico (elevados)-, desde donde fue remitido al Cuerpo de Guardia del Hospital “Arnaldo Milián Castro”: se le auscultaron crepitantes bibasales en el aparato respiratorio, soplo sistólico II/VI en focos aórticos y pulmonar y edema de miembros inferiores; una radiografía de torax arrojó moteado algodonoso en ambas  bases pulmonares y un  ecocardiograma signos de hipertensión pulmonar severa. Fue ingresado con diagnósticos de enfermedad renal crónica por nefropatía diabética e hipertensión arterial; evolucionó mal, no respondió a los tratamientos y falleció por insuficiencia respiratoria a los 18 días de admitido. Los hallazgos en la necropsia permitieron el diagnóstico de cor pulmonale crónico descompensado en paciente que padece hipertensión pulmonar severa por neumonía organizativa criptógena como causa básica de muerte.Male patient of 74 years old, with personal pathological histories of obesity, hypertension, diabetes mellitus and left branch block of the bundle of His. He began with dyspnea and dry cough that did not improve with the treatment imposed by the family doctor. He went to the Cardiocentro “Ernesto Che Guevara” and carried out complementary tests: hemoglobin (low figures), creatinine and uric acid (elevated), from where he was referred to “Arnaldo Milián Castro” Hospital Guardhouse: bibasal crackles were heard in the respiratory system, systolic murmur II/VI in aortic and pulmonary focus and edema of the lower limbs; a chest x-ray showed cottony speckling on both lung bases and an echocardiogram signs of severe pulmonary hypertension. He was admitted with diagnoses of chronic kidney disease due to diabetic nephropathy and arterial hypertension; he evolved poorly, he did not respond to the treatments and died of respiratory failure 18 days after admission. The findings at necropsy allowed the diagnosis of decompensated chronic cor pulmonale in a patient suffering from severe pulmonary hypertension due to cryptogenic organizing pneumonia as a basic cause of death

Healthcare workers hospitalized due to COVID-19 have no higher risk of death than general population. Data from the Spanish SEMI-COVID-19 Registry

Aim To determine whether healthcare workers (HCW) hospitalized in Spain due to COVID-19 have a worse prognosis than non-healthcare workers (NHCW). Methods Observational cohort study based on the SEMI-COVID-19 Registry, a nationwide registry that collects sociodemographic, clinical, laboratory, and treatment data on patients hospitalised with COVID-19 in Spain. Patients aged 20-65 years were selected. A multivariate logistic regression model was performed to identify factors associated with mortality. Results As of 22 May 2020, 4393 patients were included, of whom 419 (9.5%) were HCW. Median (interquartile range) age of HCW was 52 (15) years and 62.4% were women. Prevalence of comorbidities and severe radiological findings upon admission were less frequent in HCW. There were no difference in need of respiratory support and admission to intensive care unit, but occurrence of sepsis and in-hospital mortality was lower in HCW (1.7% vs. 3.9%; p = 0.024 and 0.7% vs. 4.8%; p<0.001 respectively). Age, male sex and comorbidity, were independently associated with higher in-hospital mortality and healthcare working with lower mortality (OR 0.211, 95%CI 0.067-0.667, p = 0.008). 30-days survival was higher in HCW (0.968 vs. 0.851 p<0.001). Conclusions Hospitalized COVID-19 HCW had fewer comorbidities and a better prognosis than NHCW. Our results suggest that professional exposure to COVID-19 in HCW does not carry more clinical severity nor mortality

The evolution of the ventilatory ratio is a prognostic factor in mechanically ventilated COVID-19 ARDS patients

Background: Mortality due to COVID-19 is high, especially in patients requiring mechanical ventilation. The purpose of the study is to investigate associations between mortality and variables measured during the first three days of mechanical ventilation in patients with COVID-19 intubated at ICU admission. Methods: Multicenter, observational, cohort study includes consecutive patients with COVID-19 admitted to 44 Spanish ICUs between February 25 and July 31, 2020, who required intubation at ICU admission and mechanical ventilation for more than three days. We collected demographic and clinical data prior to admission; information about clinical evolution at days 1 and 3 of mechanical ventilation; and outcomes. Results: Of the 2,095 patients with COVID-19 admitted to the ICU, 1,118 (53.3%) were intubated at day 1 and remained under mechanical ventilation at day three. From days 1 to 3, PaO2/FiO2 increased from 115.6 [80.0-171.2] to 180.0 [135.4-227.9] mmHg and the ventilatory ratio from 1.73 [1.33-2.25] to 1.96 [1.61-2.40]. In-hospital mortality was 38.7%. A higher increase between ICU admission and day 3 in the ventilatory ratio (OR 1.04 [CI 1.01-1.07], p = 0.030) and creatinine levels (OR 1.05 [CI 1.01-1.09], p = 0.005) and a lower increase in platelet counts (OR 0.96 [CI 0.93-1.00], p = 0.037) were independently associated with a higher risk of death. No association between mortality and the PaO2/FiO2 variation was observed (OR 0.99 [CI 0.95 to 1.02], p = 0.47). Conclusions: Higher ventilatory ratio and its increase at day 3 is associated with mortality in patients with COVID-19 receiving mechanical ventilation at ICU admission. No association was found in the PaO2/FiO2 variation

Relationship between Resilience and Quality of Life in Patients with Fear of Hypoglycemia: The Mediating Effects of Anxiety and Depression

Background: Fear of hypoglycemia is an important problem in individuals with diabetes and could produce a negative impact on blood glucose control and quality of life in individuals with type 1 diabetes. Aim: To analyze (1) the associations among resilience, diabetes-related quality of life, and anxiety and depression in patients with type 1 diabetes with fear of hypoglycemia and (2) whether anxiety and depression mediate the relationship between resilience and quality of life. Design: A non-experimental, descriptive correlational design was used. Methods: Participants were 30 patients with type 1 diabetes with fear of hypoglycemia. Data were collected using several questionnaires administered between September 2019 and March 2020. Results: Resilience played a significant role in the anxiety and depression that accompanies diabetes. Mediation analysis was performed to assess whether the association between resilience and quality of life was mediated by anxiety and depression in series. The results show that the effect of resilience was mainly mediated by anxiety but not by depression. Conclusions: This study provides further evidence that high resilience could be a protective factor against the development of psychological symptomatology, which has a high prevalence in chronic conditions such as diabetes and can improve quality of life. Impact: Our study addresses the relationship between the positive psychological characteristic of resilience and anxiety, depression, and quality of life and the association between these variables. The results indicate that resilience has a positive impact on quality of life in people with type 1 diabetes who experience fear of hypoglycemia. Moreover, health professionals who provide care to these individuals should consider implementing programs to build resilience.Project “PI17/01674”, funded by Instituto de Salud Carlos III and co-funded by European Union (ERDF/ESF, “Investing in your future”).Ye

Multi-messenger Observations of a Binary Neutron Star Merger

International audienceOn 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of $\sim 1.7\,{\rm{s}}$ with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg(2) at a luminosity distance of ${40}_{-8}^{+8}$ Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 $\,{M}_{\odot }$. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at $\sim 40\,{\rm{Mpc}}$) less than 11 hours after the merger by the One-Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ∼10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position $\sim 9$ and $\sim 16$ days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC 4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta