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The origins of treponemal diseases have long remained unknown, especially considering the sudden onset of the first syphilis epidemic in the late 15th century in Europe and its hypothesized arrival from the Americas with Columbus' expeditions1,2. Recently, ancient DNA evidence has revealed various treponemal infections circulating in early modern Europe and colonial-era Mexico3-6. However, there has been to our knowledge no genomic evidence of treponematosis recovered from either the Americas or the Old World that can be reliably dated to the time before the first trans-Atlantic contacts. Here, we present treponemal genomes from nearly 2,000-year-old human remains from Brazil. We reconstruct four ancient genomes of a prehistoric treponemal pathogen, most closely related to the bejel-causing agent Treponema pallidum endemicum. Contradicting the modern day geographical niche of bejel in the arid regions of the world, the results call into question the previous palaeopathological characterization of treponeme subspecies and showcase their adaptive potential. A high-coverage genome is used to improve molecular clock date estimations, placing the divergence of modern T. pallidum subspecies firmly in pre-Columbian times. Overall, our study demonstrates the opportunities within archaeogenetics to uncover key events in pathogen evolution and emergence, paving the way to new hypotheses on the origin and spread of treponematoses.
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Evolução Molecular , Genoma Bacteriano , Treponema pallidum , Infecções por Treponema , Humanos , Brasil/epidemiologia , Brasil/etnologia , Europa (Continente)/epidemiologia , Genoma Bacteriano/genética , História do Século XV , História Antiga , Sífilis/epidemiologia , Sífilis/história , Sífilis/microbiologia , Sífilis/transmissão , Treponema pallidum/classificação , Treponema pallidum/genética , Treponema pallidum/isolamento & purificação , Infecções por Treponema/epidemiologia , Infecções por Treponema/história , Infecções por Treponema/microbiologia , Infecções por Treponema/transmissãoRESUMO
OBJECTIVES: Red blood cell distribution width (RDW) is a measure of variability in mean corpuscular volume. Alterations in RDW can be observed in a variety of human disorders, including inflammatory, cardiovascular, and hepatic or renal diseases. Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect virtually any organ in the body. In this work, our objective was to analyse how a complete characterisation of disease characteristics in a large series of patients with SLE is related to RDW values. METHODS: 284 patients with SLE and 181 age- and sex-matched healthy controls were recruited. Complete blood count including RDW was assessed. Multivariable analysis was performed to analyse the relationship between RDW and SLE disease characteristics, including composite scores of disease activity and damage. RESULTS: After multivariable adjustment, RDW was higher in patients with SLE compared to controls (beta coefficient 0.8 [95% confidence interval: 0.3-1] %, p=0.003). Several disease characteristics, such as the presence of extractable nuclear antibodies and antiphospholipid syndrome, and the use of prednisone and azathioprine, were significantly associated with higher levels of RDW after adjustment for confounders. Of note, cumulative disease damage and disease activity scores were associated with higher RDW values after controlling for covariates. CONCLUSIONS: RDW may serve as a surrogate biomarker of accrual disease damage and activity in patients with SLE.
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Teduglutide is a glucagon-like-peptide-2 analogue that reduces the need for parenteral support in patients with short bowel syndrome (SBS). Nevertheless, data about long-term therapy with teduglutide in children are still scarce. Our objective was to describe the real-life experience with teduglutide in children with SBS over the last 5 years in Spain. This was a national multicentre and prospective study of paediatric patients with intestinal failure (IF) treated with teduglutide for at least 3 months. The data included demographic characteristics, medical background, anthropometric data, laboratory assessments, adverse events, and parenteral nutrition (PN) requirements. Treatment response was defined as a > 20% reduction in the PN requirement. The data were collected from the Research Electronic Data Capture (REDCap) database. Thirty-one patients from seven centres were included; the median age at the beginning of the treatment was 2.3 (interquartile range (IQR) 1.4-4.4) years; and 65% of the patients were males. The most frequent cause of IF was SBS (94%). The most common cause of SBS was necrotizing enterocolitis (35%). The median residual bowel length was 29 (IQR 12-40) cm. The median duration of teduglutide therapy was 19 (IQR 12-36) months, with 23 patients (74%) treated for > 1 year and 9 treated for > 3 years. The response to treatment was analysed in 30 patients. Twenty-four patients (80%) had a reduction in their weekly PN energy > 20% and 23 patients (77%) had a reduction in their weekly PN volume > 20%. Among the responders, 9 patients (29%) were weaned off PN, with a median treatment duration of 6 (IQR 4.5-22) months. The only statistically significant finding demonstrated an association between a > 20% reduction in the weekly PN volume and a younger age at the start of treatment (p = 0.028). Conclusions: Teduglutide seems to be an effective and safe treatment for paediatric patients with IF. Some patients require a prolonged duration of treatment to achieve enteral autonomy. Starting treatment with teduglutide at a young age is associated with a higher response rate. What is Known: ⢠Glucagon-like peptide-2 (GLP-2) plays a crucial role in the regulation of intestinal adaptation in short bowel syndrome (SBS). Teduglutide is a GLP-2 analog that reduces the need for parenteral support in patients with SBS. ⢠Data about long-term therapy with teduglutide in children in real life are still scarce. What is New: ⢠Most pediatric patients with SBS respond in a satisfactory manner to teduglutide treatment. The occurrence of long-term adverse effects is exceptional. ⢠Starting treatment with the drug at a young age is associated with a greater response rate.
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Fármacos Gastrointestinais , Peptídeos , Síndrome do Intestino Curto , Humanos , Masculino , Feminino , Estudos Prospectivos , Pré-Escolar , Peptídeos/uso terapêutico , Peptídeos/efeitos adversos , Lactente , Fármacos Gastrointestinais/uso terapêutico , Fármacos Gastrointestinais/efeitos adversos , Síndrome do Intestino Curto/tratamento farmacológico , Resultado do Tratamento , Espanha , Criança , Insuficiência Intestinal/tratamento farmacológico , Nutrição Parenteral/efeitos adversosRESUMO
Introduction: Background: the number of infants and children who receive artificial nutrition at home has been steadily increasing over the last decades, as better outcomes for children with chronic conditions have been achieved. In order to evaluate the need of resources to implement the technique it is necessary to know how many patients benefit from home artificial nutrition. This information can be estimated from the register of patients, when available. Methods: in this paper the characteristics of all registers were reviewed, especially those devoted to pediatric patients. Results: only two pediatric registers are active in 2023: the Canadian register and the Spanish one. NADYA register from the Spanish Society for Clinical Nutrition and Metabolism (SENPE) and the recent REPAFI, form the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition. The most valuable register from the British Society, BANS, stopped providing information in 2018. Conclusion: despite the fact of acknowledging the importance of having gathered information on the prevalence and incidence of home artificial nutrition, to fit resources to necessities, the number of active registers is quite short.
Introducción: Introducción: el número de pacientes pediátricos que reciben nutrición artificial en el domicilio (NAD) ha crecido en los países occidentales en la medida que ha mejorado el pronóstico de algunas enfermedades graves potencialmente letales. Con el fin de poder estimar la cantidad de recursos necesarios para implementar esta técnica, es necesario conocer el volumen real de pacientes que precisan NAD. Una manera aproximada de conocer estas necesidades puede establecerse a partir de los datos de los registros nacionales de pacientes. Métodos: se revisan las características de los registros de pacientes pediátricos con NAD, tanto los activos como los que no han continuado en el tiempo, con especial atención a los registros españoles. Resultados: solo dos registros de pacientes permanecen activos en 2023, el registro canadiense y los registros españoles de la Sociedad Española de Nutrición Clínica y Metabolismo (SENPE), a través del registro NADYA y el de la Sociedad Española de Gastroenterología Hepatología y Nutrición Pediátrica, registro REPAFI. El registro más completo de la Sociedad Británica, BANS, dejó de publicar resultados en 2018. Conclusiones: a pesar de reconocer la importancia de presentar datos actualizados de prevalencia e incidencia del uso de la NAD, con el fin de adecuar los recursos a las necesidades, el número de registros activos de pacientes pediátricos es excepcional.
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Sistema de Registros , Humanos , Espanha/epidemiologia , Criança , Lactente , Pré-Escolar , Nutrição Parenteral no Domicílio/estatística & dados numéricos , Pediatria , Canadá , Adolescente , Apoio Nutricional/métodosRESUMO
The study of motivation toward health-oriented physical activity helps to know the reasons that guide people to practice physical activity. Moreover, different types and levels of motivation may coexist. As such, this paper aimed to analyze the combination of motivation for health-oriented physical activity profiles and examine whether profiles differed in emotional regulation and basic psychological needs. A sample of 808 Spanish adults between 18 and 65 years old (Mage = 33.90; Standard Deviation = 12.91; 366 men) participated in a cross-sectional study. Results revealed the existence of three different motivational profiles: (a) Low scores in self-determined motivation and average-high scores in non-self-determined motivation; (b) Average scores in self-determined and non-self-determined motivation; (c) High scores in self-determined motivation and average-high in non-self-determined motivation. Furthermore, participants differed in the satisfaction of basic psychological needs and cognitive-emotional regulation strategies depending on the profiles combination that they perceive. In conclusion, practitioners need to enhance an optimal combination of motivation profiles to satisfy better basic psychological needs and the use of functional cognitive-emotional regulation strategies since this could help improve psychological and emotional health in adults.
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The peculiar physico-chemical characteristics of nanomaterials (NMs) and the use of different coatings to improve their expected properties result in a huge amount of nanoforms, which vary in chemical composition, size, shape and surface characteristics. This makes it almost impossible to test all the nanoforms available, and efforts have been made to establish grouping or read-across strategies. The aim of this work was to find a behavior pattern of effect among nanoforms of different metallic core nanoparticles (NPs) (TiO2, CeO2 and Ag NP) with the same coatings (sodium citrate, poly (ethylene glycol), dodecylphosphonic acid or oleylamine). Daphnia magna, rainbow trout and two fish cell lines (PLHC-1 and RTH-149) were exposed to a range of concentrations (up to 100 mg/L) of the uncoated or coated NPs. Ag NPs were the most toxic, followed by CeO2 NPs and finally by TiO2 NPs. The results show that a clear pattern of toxicity in the studied species could not be established related to the coatings. However, it was possible to confirm different inter-species sensitivities. RTH-149 was the most sensitive cell line, and Daphnia magna was more sensitive than fish. Moreover, some differences in coating-core interactions were found between the metal oxide and the metal NPs in Daphnia magna.
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Introduction: Objectives: the prevention of central line-associated bloodstream infections is a critical aspect of care for patients with intestinal failure who are treated with parenteral nutrition. The use of taurolidine in this context is becoming increasingly popular, however there is a lack of standardization in its pediatric application. The objective of this work is to develop a guide to support its prescription. Methodology: the guide is based on a review of the literature and expert opinions from the Intestinal Failure Group of the SEGHNP. It was developed through a survey distributed to all its members, addressing aspects of usual practice with this lock solution. Results: this manuscript presents general recommendations concerning taurolidine indications, commercial presentations, appropriate forms of administration, use in special situations, adverse reactions, and contraindications in the pediatric population Conclusions: taurolidine is emerging as the primary lock solution used to prevent central line-associated bloodstream infections, proving to be safe and effective. This guide aims to optimize and standardize its use in pediatrics.
Introducción: Objetivo: la prevención de las infecciones asociadas a catéter ocupa un papel fundamental en los cuidados del paciente en situación de fracaso intestinal en tratamiento con nutrición parenteral. El empleo del sellado del catéter con taurolidina con ese fin se ha generalizado sin que exista una estandarización sobre su uso en población pediátrica. El objetivo de este trabajo es elaborar una guía clínica que sirva de apoyo en su utilización. Métodos: la guía se basa en una revisión de la literatura y en la opinión de expertos del Grupo de Trabajo de Fracaso Intestinal de la SEGHNP recogida a través de una encuesta realizada a todos sus integrantes sobre aspectos de la práctica habitual con este sellado. Resultados: este manuscrito expone unas recomendaciones en cuanto a las indicaciones, presentaciones comerciales disponibles, forma adecuada de administración, uso en situaciones especiales, reacciones adversas y contraindicaciones de la taurolidina en población pediátrica. Conclusiones: el sellado con taurolidina para la prevención de la infección asociada a catéter venoso central se ha mostrado como un tratamiento eficaz y seguro. La presente guía pretender optimizar y homogeneizar su uso en pediatría.
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Insuficiência Intestinal , Nutrição Parenteral , Taurina , Tiadiazinas , Humanos , Tiadiazinas/uso terapêutico , Tiadiazinas/efeitos adversos , Criança , Taurina/análogos & derivados , Taurina/uso terapêutico , Nutrição Parenteral/normas , Nutrição Parenteral/métodos , Insuficiência Intestinal/terapia , Infecções Relacionadas a Cateter/prevenção & controle , Cateterismo Venoso Central/efeitos adversos , Anti-Infecciosos/uso terapêutico , Lactente , Pré-EscolarRESUMO
Mean platelet volume (MPV), which represents the average platelet size in femtoliters, has emerged as a reliable biomarker in several systemic and chronic disorders. However, its relationship with disease characteristics in large series of patients with systemic lupus erythematosus (SLE) has not been exhaustively studied to date. In the present work, we aimed to analyze how disease characteristics, including disease activity and cumulative damage, relate to MPV in a well-characterized series of SLE patients. In total, 179 patients with SLE and 181 age- and sex-matched healthy controls were recruited. Complete blood counts including MPV were assessed. Linear multivariable analysis was performed to evaluate the relationship between MPV and SLE disease characteristics, including composite scores of disease activity and damage. MPV was significantly lower in patients with SLE compared to controls after multivariable analysis (beta coefficient, -0.7 [95% confidence interval, -1.1 to -0.3)] fL, p < 0.001). Although the SLEDAI disease activity index was not related to MPV, the SLICC score measuring cumulative disease damage was significantly associated with lower MPV values after adjustment for covariates. Elements of the SLICC score that were associated with lower MPV levels were those pertaining to the kidney, peripheral vascular, and musculoskeletal manifestations of the disease. In conclusion, MPV is lower in patients with SLE compared to matched controls. This MPV downregulation is primarily due to the renal, peripheral vascular and musculoskeletal manifestations of the disease. MPV may represent a biomarker of accrual disease damage in SLE.
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BACKGROUND: Patients with rheumatoid arthritis (RA) have an increased risk of cardiovascular (CV) events and CV mortality. Subclinical carotid atherosclerosis is independently associated with rates of incident CV events among patients with RA. The complement system has been related to both the etiopathogenesis of RA and CV disease. In this study, we aimed to evaluate the association between a comprehensive assessment of the complement system and carotid intima media thickness and carotid plaque in patients with RA. METHODS: 430 patients with RA were recruited. Functional assays of the three pathways of the complement system, utilizing new-generation techniques, were assessed. Additionally, serum levels of individual components of the complement system belonging to the three pathways were measured: C1q (classical), lectin (lectin), C2, C4, and C4b (classical and lectin), factor D and properdin (alternative), C3 and C3a (common), C5, C5a, and C9 (terminal), as well as regulators factor I and C1-inhibitor. Subclinical carotid atherosclerosis was evaluated by ultrasonography. Multivariable linear regression analysis was conducted to investigate the association between the complement system and carotid intima media thickness and carotid plaque. RESULTS: After multivariable adjustment, which included traditional CV risk factors and disease-related data, C3a and C5a exhibited significant positive correlations with carotid intima media thickness. Additionally, higher values of C1-inhibitor, properdin, C3, C5, and C5a were independently associated with the presence of carotid plaque. CONCLUSION: The complement system and subclinical carotid atherosclerosis are linked in patients with RA.
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Artrite Reumatoide , Doenças das Artérias Carótidas , Espessura Intima-Media Carotídea , Humanos , Masculino , Artrite Reumatoide/sangue , Artrite Reumatoide/complicações , Feminino , Doenças das Artérias Carótidas/sangue , Doenças das Artérias Carótidas/epidemiologia , Doenças das Artérias Carótidas/diagnóstico por imagem , Pessoa de Meia-Idade , Idoso , Proteínas do Sistema Complemento/metabolismo , Proteínas do Sistema Complemento/análise , Adulto , Estudos TransversaisRESUMO
Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder identified by hematological abnormalities including anemia, leukopenia, and thrombocytopenia. Complement system disturbance is implicated in the pathogenesis of SLE. In this work, we aim to study how a full assessment of the complement system, which includes the evaluation of its three pathways, relates to blood cell counts in a population of patients with SLE. New-generation functional assays of the classical, alternative, and lectin pathways of the complement system were conducted in 284 patients with SLE. Additionally, serum levels of inactive molecules (C1q, C2, C3, C4, factor D) and activated molecules (C3a), as well as regulators (C1-inhibitor and factor H), were evaluated. Complete blood cell counts were analyzed. Multivariable linear regression analysis was performed to study the relationship of hematological profiles with this full characterization of the complement system. After multivariable adjustments that included age, sex, SLICC-DI (damage), and SLEDAI (activity) scores, as well as the use of aspirin, prednisone, methotrexate, azathioprine, and mycophenolate mofetil, several relationships were observed between the C pathways and the individual products and blood cells profile. Lower values of C1q and C2 were associated with lower hemoglobin levels. Lower leukocyte counts showed significantly lower values of C4, C1 inhibitor, C3, factor D, and alternative pathway functional levels. Neutrophil counts showed significant negative relationships only with the alternative pathway and C1-inh. In the case of lymphocytes, associations were found, especially with functional tests of the classical and alternative pathways, as well as with C2, C4, C3, and C3a. On the contrary, for platelets, significance was only observed, after multivariable adjustment, with lower C2 concentrations. In conclusion, the serum complement system and hematological profile in SLE are independently linked, after adjustment for disease activity and damage. These relationships are basically negative and are predominantly found in lymphocytes.
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Borderline Personality Disorder (BPD) symptoms include inappropriate control of anger and severe emotional dysregulation after rejection in daily life. Nevertheless, when using the Cyberball paradigm, a tossing game to simulate social exclusion, the seven basic emotions (happiness, sadness, anger, surprise, fear, disgust, and contempt) have not been exhaustively tracked out. It was hypothesized that these patients would show anger, contempt, and disgust during the condition of exclusion versus the condition of inclusion. When facial emotions are automatically detected by Artificial Intelligence, "blending", -or a mixture of at least two emotions- and "masking", -or showing happiness while expressing negative emotions- may be most easily traced expecting higher percentages during exclusion rather than inclusion. Therefore, face videos of fourteen patients diagnosed with BPD (26 ± 6 years old), recorded while playing the tossing game, were analyzed by the FaceReader software. The comparison of conditions highlighted an interaction for anger: it increased during inclusion and decreased during exclusion. During exclusion, the masking of surprise; i.e., displaying happiness while feeling surprised, was significantly more expressed. Furthermore, disgust and contempt were inversely correlated with greater difficulties in emotion regulation and symptomatology, respectively. Therefore, the automatic detection of emotional expressions during both conditions could be useful in rendering diagnostic guidelines in clinical scenarios.
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(1) Background: The liver-first approach may be indicated for colorectal cancer patients with synchronous liver metastases to whom preoperative chemotherapy opens a potential window in which liver resection may be undertaken. This study aims to present the data of feasibility and short-term outcomes in the liver-first approach. (2) Methods: A prospective observational study was performed in Spanish hospitals that had a medium/high-volume of HPB surgeries from 1 June 2019 to 31 August 2020. (3) Results: In total, 40 hospitals participated, including a total of 2288 hepatectomies, 1350 for colorectal liver metastases, 150 of them (11.1%) using the liver-first approach, 63 (42.0%) in hospitals performing <50 hepatectomies/year. The proportion of patients as ASA III was significantly higher in centers performing ≥50 hepatectomies/year (difference: 18.9%; p = 0.0213). In 81.1% of the cases, the primary tumor was in the rectum or sigmoid colon. In total, 40% of the patients underwent major hepatectomies. The surgical approach was open surgery in 87 (58.0%) patients. Resection margins were R0 in 78.5% of the patients. In total, 40 (26.7%) patients had complications after the liver resection and 36 (27.3%) had complications after the primary resection. One-hundred and thirty-two (89.3%) patients completed the therapeutic regime. (4) Conclusions: There were no differences in the surgical outcomes between the centers performing <50 and ≥50 hepatectomies/year. Further analysis evaluating factors associated with clinical outcomes and determining the best candidates for this approach will be subsequently conducted.
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Background: Parents influence their children's lifestyles through modeling and support, which modifies how children approach physical activity. As such, this systematic review aims to know the influence of parental involvement in children's active lifestyles and the influence of parenting styles on children's practice and motivation towards physical activity. Methodology: PubMed, Google Scholar, Scopus, ResearchGate, and Web of Science databases were searched from 15 July 2022 to 30 August 2022. The publication date of the included manuscripts was between November 2012 and January 2021. The methodological quality of the studies was analyzed using the Scale for Evaluating Scientific Articles in Social and Human Science. Furthermore, it was utilized the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020. Results: The sample of the 10 included studies (in which different self-report measures were administered) was 1,957 children and their parents. In one study, parental involvement across limits decreased sedentary behaviours. In another, parent-child co-participation in physical activity improved participation in it. In one study, democratic parents predicted moderate-vigorous physical activity. In another, authoritarian styles were associated with sports practice. In another, permissive styles were associated with the worst physical activity practice. In one study, permissive parents were not significantly related to physical activity. In another, negligent parents were negatively associated with sports practice. In two studies, parenting styles were not associated with physical activity. In a study, the autonomy support of permissive parents and the structure of democratic parents is related to autonomous motivations. The coercive control of authoritarian parents and the lack of structure of negligent parents are related to non-self-determined motivations or amotivation. Conclusions: Parental involvement contributes to children's participation in physical activity. There is no unanimity in the results obtained in parenting styles and the practice of physical activity. Democratic and permissive styles are associated with self-determined motivations, as opposed to negligent and authoritarian ones. The results obtained have been extracted from studies where different self-report measures are administered, so it would be advisable to continue researching this subject.
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Poder Familiar , Esportes , Humanos , Exercício Físico , Estilo de Vida , Inquéritos e QuestionáriosRESUMO
Se presenta el caso de un recién nacido a término que presenta en rodilla derecha masa redondeada, indolora, violácea, no friable ni ulcerada. Se realiza al nacimiento ecografía Doppler compatible con anomalía vascular. La Resonancia Magnética (RM) confirma tumoración anterior en rodilla derecha, isointensa en T2 con escasas estructuras tubulares serpinginosas, que corresponden con vasos sanguíneos. Presenta venas varicosas de drenaje a la Safena Mayor (SM) en cara anterointerna del muslo. Se decidió actitud expectante constatando reducción progresiva del tamaño del hemangioma. Al año de vida, refiere que en ocasiones presenta un bultoma a nivel inguinal derecho que se corresponde en ecografía doppler con cayado de la SM dilatado e incompetente, en probable relación con hiperaflujo de las varicosidades. Se realiza seguimiento en consulta, comprobando involución completa a los dos años, con atrofia cutánea residual en cara anteroexterna de rodilla y vascularización colateral que no aumenta con valsalva. Se trata de un hemangioma congénito rápidamente involutivo (RICH). Según la clasificación ISSVA, es un tumor vascular benigno que involuciona persistiendo leve hiperpigmentación y atrofia cutánea. (provisto por Infomedic International)
We present the case of a newborn at term with a rounded, painless, violaceous, non-friable and non-ulcerated mass in the right knee. Doppler ultrasound was performed at birth, compatible with vascular anomaly. Magnetic Resonance Imaging (MRI) confirms an anterior tumor in the right knee, isointense in T2 with few serpinginous tubular structures, corresponding to blood vessels. It presents varicose veins draining to the greater saphenous vein (MS) in the anterointernal aspect of the thigh. A wait-and-see approach was decided and a progressive reduction in the size of the hemangioma was observed. At one year of life, the patient reported that she occasionally presented a bulge at the right inguinal level that corresponded on Doppler ultrasound with a dilated and incompetent arch of the greater saphenous vein, probably related to hyperflow of varicose veins. The patient was followed up in consultation and complete involution was observed after two years, with residual cutaneous atrophy on the anteroexternal aspect of the knee and collateral vascularization that did not increase with valsalva. It is a rapidly involutive congenital hemangioma (RICH). According to the ISSVA classification, it is a benign vascular tumor that involves with persistent mild hyperpigmentation and cutaneous atrophy. (provided by Infomedic International)
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Se presenta el caso de una recién nacida a término valorada en el servicio de urgencias por ictericia sin criterios de fototerapia. En los controles analíticos posteriores se detecta hipertransaminasemia y dislipemia con aumento de LDL-colesterol. Tras no objetivar alteraciones en los diferentes parámetros estudiados se realiza biopsia hepática que muestra hallazgos compatibles con cirrosis. Se amplía el estudio metabólico y presenta un perfil alterado de sialotransferrinas lo que lleva a realizar un diagnóstico de defecto congénito de la glicosilación. Bajo este nombre se incluye un grupo amplio de enfermedades relacionadas con alteraciones en el proceso de unión de glicanos a las cadenas proteicas. Este defecto, de origen genético, implica cambios en la estructura y funcionalidad de las glicoproteínas. Las manifestaciones clínicas son heterogéneas, en función del gen afecto y del tipo de glicoproteínas alteradas, siendo lo más común la afectación hepática, neurológica y hematológica. (provisto por Infomedic International)
We present the case of a full-term newborn girl evaluated in the emergency department for jaundice without phototherapy criteria. Subsequent laboratory tests showed hypertransaminasemia and dyslipidemia with increased LDL-cholesterol. After finding no alterations in the different parameters studied, a liver biopsy was performed showing findings compatible with cirrhosis. The metabolic study was extended and the patient presented an altered sialotransferrin profile, which led to a diagnosis of congenital defect of glycosylation. This name includes a broad group of diseases related to alterations in the process of glycan binding to protein chains. This defect, of genetic origin, involves changes in the structure and functionality of glycoproteins. The clinical manifestations are heterogeneous, depending on the gene affected and the type of glycoproteins altered, the most common being hepatic, neurological and hematological involvement. (provided by Infomedic International)
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La neumonitis por hipersensibilidad o alveolitis alérgica extrínseca se produce como consecuencia de la inhalación repetida de determinadas sustancias orgánicas o antígenos que, en individuos susceptibles, puede producir una inflamación de las paredes alveolares, bronquiolo e intersticio con alteración del intercambio gaseoso. Su presentación clínica puede ser muy diversa según la edad del paciente. Los niños de mayor edad suelen debutar con cuadros de disnea de esfuerzo que progresa hasta aparecer en reposo, hipoxemia y estertores crepitantes en la auscultación. No hay ninguna prueba definitiva que diagnostique por sí misma la enfermedad, pero los hallazgos analíticos, pruebas de imagen y función pulmonar apoyan la sospecha clínica. La medida más importante de tratamiento es evitar la exposición al antígeno responsable. En algunas ocasiones puede ser útil la utilización de corticoides orales. A continuación, presentamos el caso de un menor con datos clínicos de neumonitis por hipersensibilidad secundaria a la exposición a aves con hipertensión pulmonar secundaria. (provisto por Infomedic International)
Hypersensitivity pneumonitis or extrinsic allergic alveolitis occurs because of the repeated inhalation of certain organic substances or antigens which, in susceptible individuals, can cause inflammation of the alveolar, bronchiole and interstice with gas exchange disorder. Its clinical presentation can be very diverse according to the age of the patient. Older children usually present as dyspnea with exercises that progress to appear at rest, hypoxemia, and rattles on auscultation. There is no definitive test that by itself diagnoses the disease, but laboratory findings, imaging tests, and pulmonary function support clinical suspicion. The most important measure of treatment is to avoid exposure to the responsibility antigen. Sometimes, the use of oral corticosteroids may be useful. Below, we present the case of a minor with clinical data of hypersensitivity pneumonitis secondary to exposure to birds with secondary pulmonary hypertension. (provided by Infomedic International)
RESUMO
Introducción: La evaluación de un examen de varias preguntas genera un número elevado de combinaciones que, al sumar el descuento de errores ortográficos, dificulta el otorgamiento de la calificación correcta y requiere de mucho tiempo. La automatización de este proceso fue realizada por Santander Montes y colaboradores con el paquete profesional estadístico PSPP de libre distribución. Objetivo: Construir un instrumento en Excel para calificaciones de exámenes parciales y finales, de tres, cinco y siete preguntas, con descuento de errores ortográficos según los requisitos de la educación médica cubana. Métodos: Se utilizaron las herramientas de tabulación de información y fórmulas que ofrece el programa Excel de Microsoft Office 2013. Resultados: Se diseñó una interfaz simple, fácil de ejecutar. Se creó una secuencia para determinar en el instrumento: validez, confiabilidad, representatividad y factibilidad. Con la revisión reiterada de cinco profesores de manera independiente (1 Pediatría, 1 Medicina Interna y 3 Salud Pública) y la prueba piloto (examen final de Salud Pública de la carrera de medicina en el primer semestre del curso 2021-2022 en la Facultad Julio Trigo López"), se logró un instrumento de muy fácil uso, válido, confiable y accesible. Conclusiones: El instrumento en Excel propuesto proporciona una opción para automatizar el proceso de evaluación, evitando los errores que se cometen en la evaluación manual(AU)
Introduction: The evaluation of an exam of several questions generates a high number of combinations that, when adding the discount of spelling errors, makes it difficult to give the correct grade and requires a lot of time. The automation of this process was carried out by Santander Montes and collaborators with the professional statistical package PSPP of free distribution. Objective: To build an instrument in Excel for qualifications of partial and final exams, of three, five and seven questions, with spelling errors discounted according to the requirements of Cuban medical education. Methods: The information and formula tabulation tools offered by the Microsoft Office 2013 Excel program were used. Results: A simple interface was designed, easy to execute. A sequence was created to determine in the instrument: validity, reliability, representativeness and feasibility. With the repeated review of five professors independently (1 Pediatrics, 1 Internal Medicine and 3 Public Health) and the pilot test (final exam of Public Health of the medical career in the first semester of the 2021-2022 academic year in the Faculty Julio Trigo López), a very easy-to-use, valid, reliable and accessible instrument was achieved. Conclusions: The proposed instrument in Excel speeds up the evaluation process and avoids the errors that are made in manual evaluation(AU)