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1.
Artigo em Inglês | MEDLINE | ID: mdl-38505951

RESUMO

BACKGROUND: PTEN is primarily known as a tumour suppressor gene. However, research describes higher rates of difficulties including intellectual disability and difficulties relating to autism spectrum conditions (ASCs) in people with germline PTEN mutations. Other psychological characteristics/experiences are less often reported and are explored in this study. METHODS: The parents of 20 children with PTEN mutations completed an online survey exploring adaptive behaviour, ASC-associated behaviours, anxiety, mood, hypermobility, behaviours that challenge, sensory experiences, quality of life and parental wellbeing. Published normative data and data from groups of individuals with other genetic neurodevelopmental conditions were used to contextualise findings. RESULTS: Overall levels of adaptive behaviour were below the 'typical' range, and no marked relative differences were noted between domains. Higher levels of ASC-related difficulties, including sensory experiences, were found in comparison with 'typically developing' children, with a possible peak in restrictive/repetitive behaviour; ASC and sensory processing atypicality also strongly correlated with reported joint hypermobility. A relative preservation of social motivation was noted. Anxiety levels were found to be elevated overall (and to relate to sensory processing and joint hypermobility), with the exception of social anxiety, which was comparable with normative data. Self-injurious behaviour was common. CONCLUSIONS: Results suggest a wide range of possible difficulties in children with PTEN mutations, including elevated anxiety. Despite elevated ASC phenomenology, social motivation may remain relatively strong. Firm conclusions are restricted by a small sample size and potential recruitment bias, and future research is required to further explore the relationships between such characteristics.

2.
Braz J Biol ; 83: e277437, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38422256

RESUMO

The use of residues from coffee production to obtain biochar is a sustainable approach, which aims to minimize the environmental impact of these materials. In this study, the effect of adding coffee straw biochar on the physiological quality of lettuce and sorghum seeds was investigated. Thus, the objective of this work was to study the effect of adding different concentrations of coffee biochar in the substrate composition on the physiological quality of lettuce (Lactuca sativa) and sorghum (Sorghum bicolor) seeds. The experimental design used was completely randomized, with five concentrations of biochar (0; 7.5; 15; 30 and 60%), conducted with four replications of 25 seeds. The use of biochar in the concentrations studied does not provide an increase in the average germination percentage and vigor of lettuce and sorghum seeds. The increase in the concentration of biochar caused less seed vigor, suggesting a toxic effect. For seed germination, there was no significant difference between lettuce and sorghum species, regardless of treatment. For the germination speed index, sorghum seeds have higher means, except for the treatment with the addition of 15% coffee straw biochar. Lettuce seeds have higher shoot length averages, except for treatment with 100% commercial substrate. The sorghum seeds have higher mean root length and dry mass than lettuce, regardless of the treatment.


Assuntos
Carvão Vegetal , Germinação , Sorghum , Café , Grão Comestível , Lactuca , Sementes/fisiologia
3.
Rev. esp. anestesiol. reanim ; 70(10): 602-607, Dic. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-228138

RESUMO

El lavado pulmonar total (LPT) es la principal terapia para la proteinosis alveolar pulmonar (PAP). Formulamos la hipótesis de la aplicabilidad de la ecografía pulmonar (EP) para guiar el alcance de la inundación alveolar en un varón de 15 años. El LPT de cada pulmón consistió en la instilación de solución salina, seguida de quinesioterapia y drenaje de líquidos. En el primer LPT, el proceso se repitió hasta observar el aclaramiento macroscópico progresivo del líquido de lavado, con visualización simultánea de las fases de aireación pulmonar mediante EP. En la segunda etapa, se utilizó un patrón de EP para guiar la extensión del lavado. La aparición del patrón de tipo tisular mediante broncograma del fluido definió la terminación temprana de la infusión salina. En conclusión, la EP contribuyó a monitorizar las fases de la desaireación pulmonar a lo largo del LPT, y redujo la cantidad total de solución salina instilada, con el fin de minimizar sus complicaciones inherentes.(AU)


Whole lung lavage (WLL) is the first-line treatment for pulmonary alveolar proteinosis. We hypothesized that lung ultrasound (LUS) would guide flooding during treatment in a 15-year-old boy. WLL of each lung consisted of instillation of saline followed by kinesiotherapy and fluid drainage. In the first WLL, the lung was repeatedly flooded until the lavage fluid was clear on macroscopic examination. During this process, LUS was used to visualise lung aeration. In the second WLL, we used LUS signs to guide the lavage volume. The appearance of the fluid bronchogram sign showed that saline infusion could be stopped earlier than in the first lavage. In conclusion, LUS helped monitor the different stages of controlled lung de-aeration during WLL and reduce the total amount of saline used. This technique will also reduce the risk of WLL-related complications.(AU)


Assuntos
Humanos , Masculino , Adolescente , Lavagem Broncoalveolar/métodos , Proteinose Alveolar Pulmonar/diagnóstico por imagem , Anestesia , Anestesia Geral/métodos , Eletrocardiografia , Capnografia , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Pediatria , Líquido da Lavagem Broncoalveolar
4.
Braz J Biol ; 83: e277798, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38126645

RESUMO

In the cropping systems that integrate the corn crop, the insertion of Crotalaria ochroleuca G. Don is predominantly intercropped. In this context, there is a need to observe herbicides that present selectivity for this sunn hemp species. The objective of this study was to evaluate the selectivity of pre and post-emergent herbicides on C. ochroleuca. Two field experiments were conducted in randomized blocks with four replications, involving the pre-emergence and post-emergence application of different herbicide treatments. For the pre-emergent ones, amicarbazone, atrazine and flumioxazin provided phytotoxicity higher than 90% and, consequently, low plant biomass. On the other hand, acetochlor and s-metolachlor did not cause phytotoxicity and did not affect the dry mass of crotalaria. In post-emergence, atrazine + mesotrione showed phytotoxicity >95%, followed by nicosulfuron and 2.4-D with phytotoxicity between 50-60%, whereas tembotrione did not cause injury to the plants. Thus, it was found that among the pre-emergent, acetochlor and s-metolachlor were selective, and for the emerging powders, only tembotrione was the most selective for all parameters analyzed.


Assuntos
Atrazina , Crotalaria , Herbicidas , Herbicidas/toxicidade , Zea mays
5.
Endocr Connect ; 12(3)2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37931414

RESUMO

Background: Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors. Due to the rarity of the disease, current treatment guidelines are predominantly based on the results of small observational retrospective studies and extrapolations from results in adult patients. In order to develop more personalized treatment and follow-up strategies (aiming to reduce complication rates), there is an unmet need for uniform international prospective data collection and clinical trials. Methods and analysis: The European pediatric thyroid carcinoma registry aims to collect clinical data for all patients ≤18 years of age with a confirmed diagnosis of DTC who have been diagnosed, assessed, or treated at a participating site. This registry will be a component of the wider European Registries for Rare Endocrine Conditions project which has close links to Endo-ERN, the European Reference Network for Rare Endocrine Conditions. A multidisciplinary expert working group was formed to develop a minimal dataset comprising information regarding demographic data, diagnosis, treatment, and outcome. We constructed an umbrella-type registry, with a detailed basic dataset. In the future, this may provide the opportunity for research teams to integrate clinical research questions. Ethics and dissemination: Written informed consent will be obtained from all participants and/or their parents/guardians. Summaries and descriptive analyses of the registry will be disseminated via conference presentations and peer-reviewed publications.

6.
Rev Esp Anestesiol Reanim (Engl Ed) ; 70(10): 602-607, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37669702

RESUMO

Whole lung lavage (WLL) is the first-line treatment for pulmonary alveolar proteinosis. We hypothesized that lung ultrasound (LUS) would guide flooding during treatment in a 15-year-old boy. WLL of each lung consisted of instillation of saline followed by kinesiotherapy and fluid drainage. In the first WLL, the lung was repeatedly flooded until the lavage fluid was clear on macroscopic examination. During this process, LUS was used to visualise lung aeration. In the second WLL, we used LUS signs to guide the lavage volume. The appearance of the fluid bronchogram sign showed that saline infusion could be stopped earlier than in the first lavage. In conclusion, LUS helped monitor the different stages of controlled lung de-aeration during WLL and reduce the total amount of saline used. This technique will also reduce the risk of WLL-related complications.


Assuntos
Proteinose Alveolar Pulmonar , Masculino , Humanos , Criança , Adolescente , Proteinose Alveolar Pulmonar/diagnóstico por imagem , Proteinose Alveolar Pulmonar/terapia , Lavagem Broncoalveolar/métodos , Pulmão/diagnóstico por imagem , Ultrassonografia
7.
Appl Ergon ; 106: 103902, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36162274

RESUMO

Medical events can affect space crew health and compromise the success of deep space missions. To successfully manage such events, crew members must be sufficiently prepared to manage certain medical conditions for which they are not technically trained. Extended Reality (XR) can provide an immersive, realistic user experience that, when integrated with augmented clinical tools (ACT), can improve training outcomes and provide real-time guidance during non-routine tasks, diagnostic, and therapeutic procedures. The goal of this study was to develop a framework to guide XR platform development using astronaut medical training and guidance as the domain for illustration. We conducted a mixed-methods study-using video conference meetings (45 subject-matter experts), Delphi panel surveys, and a web-based card sorting application-to develop a standard taxonomy of essential XR capabilities. We augmented this by identifying additional models and taxonomies from related fields. Together, this "taxonomy of taxonomies," and the essential XR capabilities identified, serve as an initial framework to structure the development of XR-based medical training and guidance for use during deep space exploration missions. We provide a schematic approach, illustrated with a use case, for how this framework and materials generated through this study might be employed.


Assuntos
Voo Espacial , Humanos , Software
8.
Clin Mol Allergy ; 20(1): 11, 2022 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-36104791

RESUMO

BACKGROUND: Allergy to Apis dorsata (Giant Asian Honeybee) venom is the commonest insect allergy in Sri Lanka and South East Asia. However, laboratory diagnosis is difficult as the pure venom and diagnostic reagents are not commercially available. OBJECTIVE: This study assessed the use of four recombinant allergens of A. mellifera venom and the passive basophil activation test in the diagnosis of A. dorsata venom anaphylaxis. METHODS: Serum IgE levels to four recombinant allergens of A. mellifera, rApi m 1, 2, 5 and 10 were assessed and compared with serum IgE to the crude venom of A. mellifera or V. vulgaris by Phadia ImmunoCAP, in patients who developed anaphylaxis to A. dorsata stings. Basophil activation in response to venom of A. dorsata or V. affinis was assessed using a passive basophil activation test. Association of the severity of the reaction with basophil activation was compared. RESULTS: rApi m 1 and 10 combinedly had significant correlation (r = 0.722; p < 0.001) with the crude venom of A. mellifera (Western honeybee) and a higher positivity rate of 90% (27/30). Whereas, IgE reactivity to rApi m 2 or 5 had significant correlation (p = 0.02 and p = 0.005 respectively) with V. vulgaris crude venom. All 30 (100%) were positive to A. dorsata venom in passive BAT; 70% (21/30) had over 80% activation, 96.7% (29/30) had over 60% activation and 100% had over 50% activation. Percentage activation of basophils in patients who had mild or moderate reactions (n = 20) was significantly low (p = 0.02) from that of patients who had severe reactions (n = 10). CONCLUSIONS: rApi m 1 and 10 when combined was sensitive for the diagnosis of A. dorsata allergy. This combination had the lowest cross-reactivity rate with Vespula vulgaris. The passive BAT is highly sensitive in A. dorsata allergy. The basophil reactivity was significantly higher in severe anaphylaxis compared to mild/moderate anaphylaxis. This finding should be further explored in further studies.

9.
Artigo em Inglês | MEDLINE | ID: mdl-35937956

RESUMO

The cardiac surgery operating room is a high-risk and complex environment in which multiple experts work as a team to provide safe and excellent care to patients. During the cardiopulmonary bypass phase of cardiac surgery, critical decisions need to be made and the perfusionists play a crucial role in assessing available information and taking a certain course of action. In this paper, we report the findings of a simulation-based study using machine learning to build predictive models of perfusionists' decision-making during critical situations in the operating room (OR). Performing 30-fold cross-validation across 30 random seeds, our machine learning approach was able to achieve an accuracy of 78.2% (95% confidence interval: 77.8% to 78.6%) in predicting perfusionists' actions, having access to only 148 simulations. The findings from this study may inform future development of computerised clinical decision support tools to be embedded into the OR, improving patient safety and surgical outcomes.

11.
Rev. neurol. (Ed. impr.) ; 74(5): 170-173, Mar 1, 2022.
Artigo em Espanhol | IBECS | ID: ibc-217674

RESUMO

Introducción: El síndrome PURA es una condición autosómica dominante poco común causada por variantes patogénicas de novo en el gen PURA y que se caracteriza por un fenotipo multisistémico que incluye retraso del neurodesarrollo global, hipotonía temprana, ausencia de habla, dificultades para alimentarse, hipersomnolencia, epilepsia y trastornos del movimiento. Caso clínico: Presentamos una niña de 9 años con hipotonía y dificultades para alimentarse con retraso del crecimiento desde el período neonatal. A la edad de 3 años era evidente el retraso motor e intelectual, tenía una marcha de base amplia, no hablaba y una respuesta de sobresalto acústico exagerada. Desarrolló estereotipias de mano-boca y epilepsia a los 6 años. La monitorización electroencefalográfica continua de 24 horas reveló una actividad lenta global y una actividad epileptiforme frecuente en las áreas temporal izquierda y centrotemporal. La resonancia magnética del cerebro reveló un retraso en la mielinización. A los 6 años, la secuenciación clínica del exoma identificó una variante patógena heterocigótica en el gen PURA, c.153delA p. (Leu54CysfsTer24). Conclusión: El síndrome PURA tiene características clínicas similares a otros trastornos neurológicos, pero la asociación con algunas características clínicas, no tan comunes en otras entidades neurológicas, como no poder hablar, pero poder seguir órdenes simples, y una respuesta de sobresalto acústico exagerado, deben ser factores de sospecha de síndrome PURA y servir para realizar un análisis genético para confirmar el diagnóstico y proporcionar una intervención multidisciplinar precoz.(AU)


Introduction: PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in PURA gene and characterized by a multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy and movement disorders. Case report: We report a 9-year-old girl with hypotonia and feeding difficulties with failure to thrive since the neonatal period. At the age of 3 years motor and intellectual delay were evident, she had a wide-based gait, no speech and an exaggerated acoustic startle response. She developed hand-mouthing stereotypies and epilepsy at 6 years old. The 24 hours continuous electroencephalogram monitoring revealed global slow activity and frequent epileptiform activity in left temporal and centrotemporal areas. The brain MRI revealed delayed myelination. At 6 years old the clinical exome sequencing identified a heterozygous pathogenic variant in the PURA gene, c.153delA p.(Leu54CysfsTer24). Conclusion: PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.(AU)


Assuntos
Humanos , Feminino , Criança , Insuficiência de Crescimento , Transtornos do Desenvolvimento da Linguagem , Deficiência Intelectual , Transtornos dos Movimentos , Doenças do Sistema Nervoso , Desenvolvimento Infantil
12.
Rev Neurol ; 74(5): 170-173, 2022 03 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35211951

RESUMO

INTRODUCTION: PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in PURA gene and characterized by a multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy and movement disorders. CASE REPORT: We report a 9-year-old girl with hypotonia and feeding difficulties with failure to thrive since the neonatal period. At the age of 3 years motor and intellectual delay were evident, she had a wide-based gait, no speech and an exaggerated acoustic startle response. She developed hand-mouthing stereotypies and epilepsy at 6 years old. The 24 hours continuous electroencephalogram monitoring revealed global slow activity and frequent epileptiform activity in left temporal and centrotemporal areas. The brain MRI revealed delayed myelination. At 6 years old the clinical exome sequencing identified a heterozygous pathogenic variant in the PURA gene, c.153delA p.(Leu54CysfsTer24). CONCLUSION: PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.


TITLE: Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante.Introducción. El síndrome PURA es una condición autosómica dominante poco común causada por variantes patogénicas de novo en el gen PURA y que se caracteriza por un fenotipo multisistémico que incluye retraso del neurodesarrollo global, hipotonía temprana, ausencia de habla, dificultades para alimentarse, hipersomnolencia, epilepsia y trastornos del movimiento. Caso clínico. Presentamos una niña de 9 años con hipotonía y dificultades para alimentarse con retraso del crecimiento desde el período neonatal. A la edad de 3 años era evidente el retraso motor e intelectual, tenía una marcha de base amplia, no hablaba y una respuesta de sobresalto acústico exagerada. Desarrolló estereotipias de mano-boca y epilepsia a los 6 años. La monitorización electroencefalográfica continua de 24 horas reveló una actividad lenta global y una actividad epileptiforme frecuente en las áreas temporal izquierda y centrotemporal. La resonancia magnética del cerebro reveló un retraso en la mielinización. A los 6 años, la secuenciación clínica del exoma identificó una variante patógena heterocigótica en el gen PURA, c.153delA p. (Leu54CysfsTer24). Conclusión. El síndrome PURA tiene características clínicas similares a otros trastornos neurológicos, pero la asociación con algunas características clínicas, no tan comunes en otras entidades neurológicas, como no poder hablar, pero poder seguir órdenes simples, y una respuesta de sobresalto acústico exagerado, deben ser factores de sospecha de síndrome PURA y servir para realizar un análisis genético para confirmar el diagnóstico y proporcionar una intervención multidisciplinar precoz.


Assuntos
Epilepsia , Deficiência Intelectual , Criança , Proteínas de Ligação a DNA/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Feminino , Humanos , Deficiência Intelectual/genética , Reflexo de Sobressalto , Fatores de Transcrição/genética
13.
Heliyon ; 8(1): e08808, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35128100

RESUMO

Given the importance of the financial markets in the global context, data analysis and new statistical approach are always welcome, especially if we are referring to G-20 group (the world's richest countries). As we know, the pandemic outbreak of COVID-19 has affected the global economy, and its impact seems to be inevitable (as it was in 2020). From the perspective of what was raised above, this paper aims to analyze the stock market efficiency in 21 indexes of G-20. We are going to do our analysis with intraday scale (of hour), from May 2019 to May 2020. In order to be successful in this analysis, we applied the DFA and the DCCA methods, to identify or not two points:i)Are G-20 stock market efficient in their weak form?ii)With open/close values, it is possible to identify some type of memory in G-20 group? The answer to these points will be given throughout this paper. For this purpose, the entire analysis will be divided into two different time-scale: Period I, time-scale less than five days and Period II, with time-scale greater than ten days. In the pandemic times of COVID-19, our results show that taking into account the DFA method, for time-scale shorter than 5 days, the stock markets tend to be efficient, whereas for time-scale longer than 10 days, the stock market tend to be inefficient. But, with DCCA method for cross-correlation analysis, the results for open/close indexes show different types of behaviors for each stock market index separately.

14.
Rev Esp Anestesiol Reanim (Engl Ed) ; 68(9): 531-536, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34836583

RESUMO

INTRODUCTION: Epidural analgesia is considered the preferred analgesic choice during labour. Post dural puncture headache (PDPH) is considered a potential complication of this analgesic technique and is a frequently hypothesis for any headache occurring after delivery. It is essential that anaesthetists and obstetricians are familiar with other possible differential diagnosis for postpartum headache (PPH). CASE DESCRIPTION: 37-year-old female presented after delivery with intense occipital pulsatile headache associated with neck radiation, nausea and vomiting, hemodynamically stable and normal neurologic physical examination. Abnormalities in thyroid hormone levels were found. CT-scan findings suggested pituitary apoplexy. DISCUSSION: There are many differential diagnoses for PPH and some are rarely considered, such as pituitary apoplexy. It is essential to differentiate signs and symptoms of each diagnosis, since many of them overlap. CONCLUSION: Not all postpartum headaches are PDPH and the first suspected diagnosis may not always be accurate.


Assuntos
Analgesia Epidural , Anestesia Epidural , Cefaleia Pós-Punção Dural , Analgesia Epidural/efeitos adversos , Anestesia Epidural/efeitos adversos , Feminino , Cefaleia/diagnóstico , Humanos , Cefaleia Pós-Punção Dural/diagnóstico , Período Pós-Parto
15.
Rev Esp Anestesiol Reanim ; 68(7): 408-413, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-34629562

RESUMO

INTRODUCTION: Regional anesthesia techniques were recently introduced to provide analgesia for breast surgery. These techniques are rarely used as the primary anesthesia due to the complexity of breast innervation, with numerous structures that can potentially be disrupted during breast surgery. CASE REPORT: A female patient in her sixties diagnosed with invasive ductal carcinoma on her left breast was scheduled for a simple mastectomy. After anesthetic evaluation, identification of high risk perioperative cardiovascular complications, it was proposed to perform the surgery only with regional anesthesia. A combination of pectoral nerve block (Pecs II), pecto-intercostal fascial block (PIFB) and supraclavicular nerve block ultrasound-guided were successfully performed. CONCLUSION: This is the first case reporting a novel approach in a patient with severe cardiopulmonary disease who underwent breast surgery in a COVID-19 era.

16.
Artigo em Inglês | MEDLINE | ID: mdl-34509278

RESUMO

INTRODUCTION: Regional anesthesia techniques were recently introduced to provide analgesia for breast surgery. These techniques are rarely used as the primary anesthesia due to the complexity of breast innervation, with numerous structures that can potentially be disrupted during breast surgery. CASE REPORT: A female patient in her sixties diagnosed with invasive ductal carcinoma on her left breast was scheduled for a simple mastectomy. After anesthetic evaluation, identification of high risk perioperative cardiovascular complications, it was proposed to perform the surgery only with regional anesthesia. A combination of pectoral nerve block (Pecs II), pecto-intercostal fascial block (PIFB) and supraclavicular nerve block ultrasound-guided were successfully performed. CONCLUSION: This is the first case reporting a novel approach in a patient with severe cardiopulmonary disease who underwent breast surgery in a COVID-19 era.


Assuntos
Anestésicos , Neoplasias da Mama , COVID-19 , Bloqueio Nervoso , Ultrassonografia de Intervenção , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mastectomia , Mastectomia Simples , Pessoa de Meia-Idade , SARS-CoV-2 , Volume Sistólico , Função Ventricular Esquerda
17.
Ultrasound Obstet Gynecol ; 58(4): 597-602, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34090308

RESUMO

OBJECTIVE: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell-free DNA (cfDNA) test to screen for fetal 22q11.2 deletion in a large cohort, using blinded analysis of prospectively enrolled pregnancies and stored clinical samples. METHODS: In order to ensure that the analysis included a meaningful number of cases with fetal 22q11.2 deletion, maternal plasma samples were obtained by prospective, multicenter enrolment of pregnancies with a fetal cardiac abnormality and from stored clinical samples from a research sample bank. Fetal genetic status, as evaluated by microarray analysis, karyotyping with fluorescence in-situ hybridization or a comparable test, was available for all cases. Samples were processed as described previously for the Harmony prenatal test, with the addition of DANSR (Digital Analysis of Selected Regions) assays targeting the 3.0-Mb region of 22q11.2 associated with 22q11.2 deletion syndrome. Operators were blinded to fetal genetic status. Sensitivity and specificity of the cfDNA test for 22q11.2 deletion were calculated based on concordance between the cfDNA result and fetal genotype. RESULTS: The final study group consisted of 735 clinical samples, including 358 from prospectively enrolled pregnancies and 377 stored clinical samples. Of 46 maternal plasma samples from pregnancies with a 22q11.2 deletion, ranging in size from 1.25 to 3.25 Mb, 32 had a cfDNA result indicating a high probability of 22q11.2 deletion (sensitivity, 69.6% (95% CI, 55.2-80.9%)). All 689 maternal plasma samples without a 22q11.2 deletion were classified correctly by the cfDNA test as having no evidence of a 22q11.2 deletion (specificity, 100% (95% CI, 99.5-100%)). CONCLUSIONS: The results of this large-scale prospective clinical evaluation of the sensitivity and specificity of a targeted cfDNA test for fetal 22q11.2 deletion demonstrate that this test can detect the common and smaller, nested 22q11.2 deletions with a low (0-0.5%) false-positive rate. Although the positive predictive value (PPV) observed in this study population was 100%, the expected PPV in the general pregnant population is estimated to be 12.2% at 99.5% specificity and 41.1% at 99.9% specificity. The use of this cfDNA test to screen for 22q11.2 deletion could enhance identification of pregnancies at risk for 22q11.2 deletion syndrome without significantly increasing the likelihood of maternal anxiety and unnecessary invasive procedures related to a false-positive result. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Ácidos Nucleicos Livres/sangue , Síndrome de DiGeorge/diagnóstico , Testes para Triagem do Soro Materno/estatística & dados numéricos , Adulto , Síndrome de DiGeorge/embriologia , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Análise em Microsséries , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Método Simples-Cego
18.
J Appl Microbiol ; 131(4): 1942-1957, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33709536

RESUMO

AIMS: In-vitro/In-vivo evaluation of cholesterol-lowering probiotic strain Lactobacillus paracasei DTA81 and the possible connection with the gut microbiota modulation. METHODS AND RESULTS: In the present study, strain DTA81 has been evaluated for the possible influence on blood lipid and glucose concentrations, modulation of the immune system, gastrointestinal survivability and modulation of gut microbiota in BALB/c mice receiving a high-fat diet. After 6 weeks of treatment, a significant reduction of total cholesterol and fasting blood sugar (FBS) among animals treated with L. paracasei DTA81 has been recorded. Comparison of colon tissue levels of different cytokines revealed a significant reduction of the inflammatory cytokine interleukin-6. The comparison of gut microbiota using the 16S rRNA approach indicated that the treatment with L. paracasei DTA81 significantly increased the taxa Bacteroidetes and Coprococcus. Moreover, the genome of DTA81 was sequenced for the in-silico assessment, and the analysis indicated the presence of cholesterol assimilation-related genes as well as the absence of negative traits such as transmissible antibiotic resistance genes, plasmids and prophage regions. CONCLUSION: The outcome of this study revealed the in-vitro and in-vivo properties of L. paracasei DTA81 and the possible mechanism between consumption of this strain, the abundance of Bacteriodetes/Coprococcus taxa, immunomodulatory activity and the subsequent reduction of cholesterol/FBS in BALB/c mice. SIGNIFICANCE AND IMPACT OF THE STUDY: Lactobacillus paracasei DTA81 as a non-pharmacological potential probiotic supplement can influence metabolic homeostasis in individuals, particularly those adopting high-fat diets, and it can contribute to reduce coronary heart disease.


Assuntos
Microbioma Gastrointestinal , Lacticaseibacillus paracasei , Probióticos , Animais , Colesterol , Dieta Hiperlipídica , Camundongos , Camundongos Endogâmicos BALB C , RNA Ribossômico 16S/genética
19.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33516566

RESUMO

INTRODUCTION: Epidural analgesia is considered the preferred analgesic choice during labour. Post dural puncture headache (PDPH) is considered a potential complication of this analgesic technique and is a frequently hypothesis for any headache occurring after delivery. It is essential that anaesthetists and obstetricians are familiar with other possible differential diagnosis for postpartum headache (PPH). CASE DESCRIPTION: 37-year-old female presented after delivery with intense occipital pulsatile headache associated with neck radiation, nausea and vomiting, hemodynamically stable and normal neurologic physical examination. Abnormalities in thyroid hormone levels were found. CT-scan findings suggested pituitary apoplexy. DISCUSSION: There are many differential diagnoses for PPH and some are rarely considered, such as pituitary apoplexy. It is essential to differentiate signs and symptoms of each diagnosis, since many of them overlap. CONCLUSION: Not all postpartum headaches are PDPH and the first suspected diagnosis may not always be accurate.

20.
Rev. esp. anestesiol. reanim ; 68: 0-0, 2021. ilus
Artigo em Espanhol | IBECS | ID: ibc-196869

RESUMO

INTRODUCCIÓN: Se han introducido recientemente técnicas de anestesia regional, para aportar analgesia en la cirugía de mama. Dichas técnicas son raramente utilizadas como anestesia primaria, debido a la complejidad de la inervación de la mama, con numerosas estructuras que pueden verse potencialmente alteradas durante la cirugía. CASO CLÍNICO: Paciente femenino de unos 70 años con diagnóstico de carcinoma ductal invasivo en la mama izquierda, programada para mastectomía simple. Tras la evaluación anestésica e identificación de complicaciones cardiovasculares perioperatorias de alto riesgo, fue propuesta para cirugía con anestesia regional únicamente. Se realizó una combinación exitosa de bloqueo del nervio pectoral (Pecs II), bloqueo fascial pecto-intercostal (PIFB) y bloqueo ecoguiado del nervio supraclavicular. CONCLUSIÓN: Este es el primer caso que reporta una técnica novedosa en una paciente con enfermedad cardiopulmonar severa, a quien se practicó cirugía de mama en la era de la COVID-19


INTRODUCTION: Regional anesthesia techniques were recently introduced to provide analgesia for breast surgery. These techniques are rarely used as the primary anesthesia due to the complexity of breast innervation, with numerous structures that can potentially be disrupted during breast surgery. CASE REPORT: A female patient in her sixties diagnosed with invasive ductal carcinoma on her left breast was scheduled for a simple mastectomy. After anesthetic evaluation, identification of high risk perioperative cardiovascular complications, it was proposed to perform the surgery only with regional anesthesia. A combination of pectoral nerve block (Pecs II), pecto-intercostal fascial block (PIFB) and supraclavicular nerve block ultrasound-guided were successfully performed. CONCLUSION: This is the first case reporting a novel approach in a patient with severe cardiopulmonary disease who underwent breast surgery in a COVID-19 era


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Bloqueio do Plexo Braquial/métodos , Mastectomia Simples/métodos , Anestésicos Locais/administração & dosagem , Neoplasias da Mama/cirurgia , Pandemias , Infecções por Coronavirus/epidemiologia , Doença Cardiopulmonar/complicações , Carcinoma Ductal de Mama/cirurgia
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