ABSTRACT
BACKGROUND: This international study aimed to characterise the impact of acute SARS-CoV-2 infection in people with cystic fibrosis and investigate factors associated with severe outcomes. Methods Data from 22 countries prior to 13th December 2020 and the introduction of vaccines were included. It was de-identified and included patient demographics, clinical characteristics, treatments, outcomes and sequalae following SARS-CoV-2 infection. Multivariable logistic regression was used to investigate factors associated with clinical progression to severe COVID-19, using the primary outcome of hospitalisation with supplemental oxygen. RESULTS: SARS-CoV-2 was reported in 1555 people with CF, 1452 were included in the analysis. One third were aged <18 years, and 9.4% were solid-organ transplant recipients. 74.5% were symptomatic and 22% were admitted to hospital. In the non-transplanted cohort, 39.5% of patients with ppFEV1<40% were hospitalised with oxygen verses 3.2% with ppFEV >70%: a 17-fold increase in odds. Worse outcomes were independently associated with older age, non-white race, underweight body mass index, and CF-related diabetes. Prescription of highly effective CFTR modulator therapies was associated with a significantly reduced odds of being hospitalised with oxygen (AOR 0.43 95%CI 0.31-0.60 p<0.001). Transplanted patients were hospitalised with supplemental oxygen therapy (21.9%) more often than non-transplanted (8.8%) and was independently associated with the primary outcome (Adjusted OR 2.45 95%CI 1.27-4.71 p=0.007). CONCLUSIONS: This is the first study to show that there is a protective effect from the use of CFTR modulator therapy and that people with CF from an ethnic minority are at more risk of severe infection with SARS-CoV-2.
Subject(s)
COVID-19 , Cystic Fibrosis , COVID-19/epidemiology , COVID-19/therapy , Cystic Fibrosis/complications , Cystic Fibrosis/epidemiology , Cystic Fibrosis/therapy , Cystic Fibrosis Transmembrane Conductance Regulator , Ethnicity , Humans , Minority Groups , Oxygen , SARS-CoV-2ABSTRACT
With the growing SARS-CoV-2 pandemic, we need to better understand its impact in specific patient groups like those with Cystic Fibrosis (CF). We report on 181 people with CF (32 post-transplant) from 19 countries diagnosed with SARS-CoV-2 prior to 13 June 2020. Infection with SARS-CoV-2 appears to exhibit a similar spectrum of outcomes to that seen in the general population, with 11 people admitted to intensive care (7 post-transplant), and 7 deaths (3 post-transplant). A more severe clinical course may be associated with older age, CF-related diabetes, lower lung function in the year prior to infection, and having received an organ transplant. Whilst outcomes in this large cohort are better than initially feared overall, possibly due to a protective effect of the relatively younger age of the CF population compared to other chronic conditions, SARS-CoV-2 is not a benign disease for all people in this patient group.
Subject(s)
COVID-19 , Cystic Fibrosis , Hospitalization/statistics & numerical data , Lung Transplantation/statistics & numerical data , SARS-CoV-2/isolation & purification , Adult , Age Factors , Aged , COVID-19/epidemiology , COVID-19/prevention & control , COVID-19/therapy , COVID-19 Testing/methods , Comorbidity , Cystic Fibrosis/epidemiology , Cystic Fibrosis/surgery , Female , Global Health , Humans , Lung/diagnostic imaging , Male , Mortality , Outcome Assessment, Health Care , Registries/statistics & numerical data , Respiratory Function Tests/methods , Risk Factors , Sex Factors , Tomography, X-Ray Computed/methodsABSTRACT
BACKGROUND: Given the high incidence of confirmed infection by SARS-CoV-2 and mortality by COVID-19 in the Spanish population, its impact was analysed among persons with Cystic Fibrosis (CF) as a group at risk of a worse evolution. The possible causes of the incidence observed in them are explained and how CF Units have faced this health challenge is detailed. METHODS: Retrospective descriptive observational study, for which a Spanish CF Patients with Confirmed COVID-19 Registry is created, requesting information on number of people affected between 8 March-16 May 2020 and their clinical-demographic characteristics from the CF Units participating in the European Cystic Fibrosis Society Patient Registry (ECFSPR). The accumulated incidence is calculated, compared with that of the general population. Additionally, a survey (CF-COVID19-Spain) is carried out on prevention of SARS-CoV-2 infection, workings of CF Units and possible reasons for the incidence observed. RESULTS: COVID-19 was diagnosed in eight CF patients, one of whom had received a lung transplant. The accumulated incidence was 32/10000 in CF patients and 49/10000 in the general population. General death rate was 5.85/10000 while no CF patients included in the ECFSPR died. The characteristics of those affected and the results of the survey are described. CONCLUSIONS: Despite being considered a disease at high risk of severe COVID-19, the low incidence and mortality in CF patients in Spain contrasts with the figures for the general population. The possible factors that would explain such findings are discussed, with the help of the results of the CF-COVID19-Spain survey.
Subject(s)
Betacoronavirus/isolation & purification , Coronavirus Infections , Cystic Fibrosis/epidemiology , Pandemics , Pneumonia, Viral , Adult , COVID-19 , COVID-19 Testing , Clinical Laboratory Techniques/methods , Clinical Laboratory Techniques/statistics & numerical data , Coronavirus Infections/diagnosis , Coronavirus Infections/epidemiology , Coronavirus Infections/prevention & control , Coronavirus Infections/therapy , Female , Humans , Incidence , Male , Mortality , Pandemics/prevention & control , Pneumonia, Viral/epidemiology , Pneumonia, Viral/prevention & control , Pneumonia, Viral/therapy , Registries/statistics & numerical data , Retrospective Studies , Risk Assessment , SARS-CoV-2 , Spain/epidemiologyABSTRACT
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies and Klippel-Trenaunay (KTS) syndromes are caused by somatic gain-of-function mutations in PIK3CA, encoding a catalytic subunit of phosphoinositide 3-kinase. Affected tissue is needed to find mutations, as mutant alleles are not detectable in blood. Because some patients with CLOVES develop Wilms tumor, we tested urine as a source of DNA for mutation detection. We extracted DNA from the urine of 17 and 24 individuals with CLOVES and KTS, respectively, and screened 5 common PIK3CA mutation hotspots using droplet digital polymerase chain reaction. Six of 17 CLOVES participants (35%) had mutant PIK3CA alleles in urine. Among 8 individuals in whom a mutation had been previously identified in affected tissue, 4 had the same mutant allele in the urine. One study participant with CLOVES had been treated for Wilms tumor. We detected the same PIK3CA mutation in her affected tissue, urine, and tumor, indicating Wilms tumors probably arise from PIK3CA mutant cells in patients with CLOVES. No urine sample from a participant with KTS had detectable PIK3CA mutations. We suggest that urine, which has the advantage of being collected non-invasively, is useful when searching for mutations in individuals with CLOVES syndrome.
Subject(s)
Class I Phosphatidylinositol 3-Kinases/genetics , Klippel-Trenaunay-Weber Syndrome/genetics , Lipoma/genetics , Musculoskeletal Abnormalities/genetics , Nevus/genetics , Vascular Malformations/genetics , Wilms Tumor/genetics , Adolescent , Adult , Alleles , Child , Child, Preschool , DNA/genetics , DNA/urine , Female , Genetic Predisposition to Disease , Humans , Infant , Klippel-Trenaunay-Weber Syndrome/pathology , Klippel-Trenaunay-Weber Syndrome/urine , Lipoma/pathology , Lipoma/urine , Male , Middle Aged , Musculoskeletal Abnormalities/pathology , Musculoskeletal Abnormalities/urine , Mutation , Nevus/pathology , Nevus/urine , Phenotype , Vascular Malformations/pathology , Vascular Malformations/urine , Wilms Tumor/pathology , Wilms Tumor/urineSubject(s)
Congenital Abnormalities/genetics , Mutation, Missense , Sodium Channels/genetics , Adolescent , Cerebellum/abnormalities , Child, Preschool , Congenital Abnormalities/metabolism , Contracture/genetics , Contracture/metabolism , DNA Mutational Analysis , Female , Humans , Infant , Intellectual Disability/genetics , Intellectual Disability/metabolism , Ion Channels , Male , Membrane Proteins , Syndrome , Exome SequencingSubject(s)
Catheters , Equipment Failure , Foreign Bodies/etiology , Foreign Bodies/surgery , Pleura , Child, Preschool , Humans , Infant, NewbornABSTRACT
The temporomandibular joint (TMJ) is a specialized synovial joint essential for the function of the mammalian jaw. The main components of the TMJ are the mandibular condyle, the glenoid fossa of the temporal bone, and a fibrocartilagenous disc interposed between them. The genetic program for the development of the TMJ remains poorly understood. Here we show the crucial role of sprouty (Spry) genes in TMJ development. Sprouty genes encode intracellular inhibitors of receptor tyrosine kinase (RTK) signaling pathways, including those triggered by fibroblast growth factors (Fgfs). Using in situ hybridization, we show that Spry1 and Spry2 are highly expressed in muscles attached to the TMJ, including the lateral pterygoid and temporalis muscles. The combined inactivation of Spry1 and Spry2 results in overgrowth of these muscles, which disrupts normal development of the glenoid fossa. Remarkably, condyle and disc formation are not affected in these mutants, demonstrating that the glenoid fossa is not required for development of these structures. Our findings demonstrate the importance of regulated RTK signaling during TMJ development and suggest multiple skeletal origins for the fossa. Notably, our work provides the evidence that the TMJ condyle and disc develop independently of the mandibular fossa.
Subject(s)
Fibroblast Growth Factors/antagonists & inhibitors , Membrane Proteins/genetics , Phosphoproteins/genetics , Temporomandibular Joint/embryology , Adaptor Proteins, Signal Transducing , Animals , Antimetabolites , Apoptosis/genetics , Bromodeoxyuridine , Caspase 3/analysis , Cell Proliferation , Fibroblast Growth Factors/genetics , Gene Silencing , Gestational Age , In Situ Hybridization , Intracellular Signaling Peptides and Proteins , Mandibular Condyle/embryology , Mice , Mice, Knockout , Mutation/genetics , Protein Serine-Threonine Kinases , Pterygoid Muscles/embryology , Receptor Protein-Tyrosine Kinases/genetics , Signal Transduction/genetics , Temporal Bone/embryology , Temporal Muscle/embryology , Temporomandibular Joint Disc/embryology , X-Ray MicrotomographyABSTRACT
BACKGROUND: There seems to be an association between paracetamol consumption during late pregnancy and the prevalence of wheezing in infancy and childhood. The aim of the present study is to determine whether the aforementioned association is modified by the presence of asthma in the mother. METHODS: A total of 1,741 children aged 3-5 years from an epidemiological survey performed in the province of Murcia (Spain) were included in the analysis. Data on paracetamol consumption (never, at least once during pregnancy or at least once per month during pregnancy), wheezing symptoms in the offspring (according to the International Study of Asthma and Allergies in Childhood protocol) and the presence of asthma in the mother, together with other known risk factors for asthma, were obtained by means of a questionnaire. RESULTS: The mean age of the children was 4.08 +/- 0.8 years and 51.1% were males. The overall prevalence of current wheezing was 20.2%. The frequency of paracetamol usage was similar among asthmatic and non-asthmatic mothers, and only a small proportion of them took this drug at least once a month (13.8% of asthmatics and 11.0% of non-asthmatics). Compared to the mothers who never took paracetamol, there was a significant association between the mother having taken paracetamol at least once per month during pregnancy and the offspring suffering from wheezing at preschool age, but only among non-asthmatic mothers (odds ratio 1.94, 95% confidence interval 1.34-2.79 vs. odds ratio 1.05, 95% confidence interval 0.21-5.08). This association was maintained after controlling for potential confounders (odds ratio 1.74, 95% confidence interval 1.15-2.61). CONCLUSIONS: The frequent usage of paracetamol during pregnancy is associated with the prevalence of wheezing in offspring during preschool years. Asthma in the mother might modify this association.
Subject(s)
Acetaminophen/adverse effects , Analgesics, Non-Narcotic/adverse effects , Asthma/drug therapy , Pregnancy Complications/drug therapy , Respiratory Sounds/etiology , Acetaminophen/administration & dosage , Analgesics, Non-Narcotic/administration & dosage , Child, Preschool , Female , Humans , Male , Mothers , Pregnancy , Prevalence , Spain/epidemiology , Surveys and QuestionnairesABSTRACT
Presentamos un caso de hematuria masiva por fístula arterio-ureteral debido a complicación urológica de la cirugía vascular protésica. Este tipo de fístulas son una causa rara de hematuria macroscópica masiva y la presentación clínica más común es la hematuria intermitente. El diagnóstico es difícil y debe sospecharse clínicamente, siendo la confirmación mediante pruebas de imagen. La única posibilidad terapéutica es quirúrgica
We present a case of massive hematuria from artery-ureteral fistula due to urologic complication of the protesic vascular surgery. These kinds of fistula are a rare case of massive macroscopic hematuria and the commonest clinical presentation is the intermittent hematuria. The only therapeutic possibility is surgical
Subject(s)
Male , Aged , Humans , Hematuria/complications , Hematuria/diagnosis , Fistula/complications , Fistula/diagnosis , Urography/methods , Angiography/methods , Tomography, Emission-Computed/methods , Prostatic Hyperplasia/complications , Prostatic Hyperplasia/diagnosis , Urinary Bladder Fistula/diagnosis , Urography/trends , Urography , Angiography/trends , Angiography , Prostatic Hyperplasia/pathology , Prostatic HyperplasiaABSTRACT
We present a case of massive hematuria from artery-ureteral fistula due to urologic complication of the protesic vascular surgery. These kinds of fistula are a rare case of massive macroscopic hematuria and the commonest clinical presentation is the intermittent hematuria. The only therapeutic possibility is surgical.
Subject(s)
Hematuria/etiology , Iliac Artery , Ureteral Diseases/complications , Urinary Fistula/complications , Vascular Fistula/complications , Aged , Aged, 80 and over , Humans , MaleABSTRACT
El márketing es un ejercicio de previsión. Es además, un esfuerzo constante del equipo humano de la empresa por sembrar y cultivar una clientela. Hace algunos años, hubiera resultado difícil para muchos vislumbrar los cambios que se han estado operando en nuestro sector y su vertiginosa velocidad. ¡Y esto es sólo el comienzo! La situación caótica que se vive en algunas ciudades por saturación de la oferta, competitividad despiadada y falta de activación de la demanda, la podríamos caricaturizar con la anécdota de dos vendedores de zapatos que son enviados por sus respectivas empresas a África. Tras un primer día de trabajo, ambos remiten a sus respectivas empresas sendos informes por fax. El primero escribe: "Mercado desastroso, todo el mundo va descalzo". El segundo escribe: "Mercado fabuloso, todo el mundo va descalzo".No sobran podólogos. Faltan pacientes que acudan a nuestras consultas. Esta es, en síntesis, la problemática a la que se enfrentan en algunas ciudades, especialmente debido a la competencia desleal de intrusos, centros de estética y personas que acuden a domicilio sin titulación a realizar labores de pedicura. Con el presente trabajo, pretendemos ayudar a canalizar a todos aquellos profesionales que pretendan rentabilizar aun más su consulta y a aquellos iniciados en estas lindes facilitarles cuales podrían ser los aspectos en los que no se deben descuidar a la hora de la apertura de una consulta. A lo largo de estas páginas, nos proponemos aportar una serie de ideas y estrategias empresariales que responden a los más actuales y potentes desarrollos del márketing. Así, si un pequeño grupo de profesionales acepta y desarrolla alguna de las ideas y herramientas de gestión propuestas, formarán el grupo y la simiente del cambio que la profesión demanda. Vamos a demostrarle que este es, y por mucho tiempo, un sector fabuloso: ¡No todos van al podólogo y si embargo todos tienen alguna patología susceptible de ser tratada por él (AU)
Subject(s)
Humans , Podiatry , Propaganda , Patient SatisfactionABSTRACT
OBJECTIVES: Herein we present the final results of a prospective randomized study comparing two prophylactic treatment modalities for superficial bladder tumors: chemotherapy with mitomycin C and immunotherapy with interferon. METHODS: The study comprised 65 patients. Mitomycin C was utilized in 34 and interferon in 31 patients. RESULTS: The mitomycin C-treated patients had 41% recurrence, 1.7 recurrence/100 patients-month, 17 months mean time to recurrence and 8.8% tumor progression. The patients receiving interferon had 45% recurrence, 2.4 recurrence/100 patients-month, 12 months mean time to recurrence and 22.2% tumor progression rate. No significant differences were observed between the two groups of patients. Treatment was well-tolerated by both groups and the cost:efficacy ratio was higher for the interferon-treated patients. CONCLUSIONS: Immunoprophylaxis with interferon is as effective, but costs more than chemoprophylaxis with mitomycin C. Both agents have a moderate effect relative to control of recurrence, time to recurrence and tumor progression.
Subject(s)
Interferon-alpha/therapeutic use , Mitomycin/therapeutic use , Neoplasm Recurrence, Local/prevention & control , Urinary Bladder Neoplasms/prevention & control , Adult , Aged , Aged, 80 and over , Humans , Interferon alpha-2 , Middle Aged , Neoplasm Recurrence, Local/epidemiology , Prospective Studies , Recombinant ProteinsABSTRACT
A survey of the 222Rn concentrations in 106 homes in the four main towns of the Central Asturias region was carried out over three years. A total of 1,014 measurements was obtained using passive radon charcoal canisters. The 222Rn concentrations fit a log-normal distribution law, with a geometric mean of 23 Bq m(-3). There is a marked difference between the 222Rn concentration for the ground inhabited floors and first floors. For the other floors, the 222Rn concentrations remain practically constant. The 222Rn concentrations are lower in summer than in winter time. The annual equivalent dose for the general public due to the inhalation of 222Rn is equal to 0.81 mSv (81 mrem).
Subject(s)
Air Pollutants, Radioactive/analysis , Air Pollution, Indoor , Radon/analysisABSTRACT
Over the last decade, the evolution in the methods for imaging diagnosis incorporated to the clinical routine, has contributed to improve the prognosis of renal adenocarcinoma by making available an early diagnosis. Eighty-eight kidney tumours, of which 36 were diagnosed and treated between January 1976 and December 1984, and the other 52 between January 1985 and December 1992 are analyzed. The percentage of accidental diagnoses shifted from 8% to 29%. Decreased number of tumours diagnosed by their metastasis, from 22% to 6%. Increased percentage of cases diagnosed in early stages P1-P2, from 23% to 46%.
Subject(s)
Adenocarcinoma/diagnosis , Kidney Neoplasms/diagnosis , Adult , Aged , Female , Humans , Male , Middle Aged , Prognosis , Time FactorsABSTRACT
PSA is, currently, the best marker to detect prostatic changes, although it looses specificity when used in the differential diagnosis of certain pathologies of the prostate gland. Forty-four patients with benign prostate hyperplasia were analyzed and 26 (59%) of them were found to have higher than normal PSA levels. An estimate was made of the degree of correlation between serum PSA and prostatic volume in the patients examined, so as to find a formula that could be useful to apply this marker in the differential diagnoses of prostate adenoma and hidden prostate cancer. No linear relationship was found between prostate volume with benign hyperplasia and PSA (R = 0.13). This lack of relationship in a high percentage of patients with prostate adenoma induces to turn unnecessary to histopathological confirmation in order to rule out prostate cancer.
Subject(s)
Prostate-Specific Antigen/blood , Prostate/pathology , Prostatic Hyperplasia/blood , Prostatic Hyperplasia/pathology , Humans , Linear Models , MaleABSTRACT
By definition, the term paraganglioma includes all the tumours deriving from the body's paraganglion system, which are therefore ranked as intra-adrenal (pheochromocytoma) and extra-adrenal or paraganglion. Vesical paraganglion represents about 10% of all extra-adrenal paraganglioma and can be functional and non-functional. When functional, the symptoms are those originated from the products synthesised in excess, usually occurring in a paroxismical fashion, in relation with urination, ejaculation and defecation. Contribution of one vesical paraganglioma accidentally found in a 71 year-old female patients undergoing tests to study the extent of a right kidney carcinosarcoma.
