35 research outputs found

    Em prol do sacrifício do isolamento: lepra e filantropia na Argentina e no Brasil, 1930-1946

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    Computer-assisted fetal laser surgery in the treatment of twin-to-twin transfusion syndrome:Recent trends and prospects

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    Fetal laser surgery has emerged as the preferred treatment of twin-to-twin transfusion syndrome (TTTS). However, the limited field of view of the fetoscope and the complexity of the procedure make the treatment challenging. Therefore, preoperative planning and intraoperative guidance solutions have been proposed to cope with these challenges. This review uncovers the literature on computer-assisted software solutions focused on TTTS. These solutions are classified by the pre- or intraoperative phase of the procedure and further categorized by discussed hardware and software approaches. In addition, it evaluates the current maturity of technologies by the technology readiness level and enumerates the necessary aspects to bring these new technologies to clinical practice

    Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

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    A new mutation is described in the X-linked gene GATA1, resulting in macrothrombocytopenia and mild dyserythropoietic features but no marked anemia in a 4-generation family. The molecular basis for the observed phenotype is a substitution of glycine for aspartate in the strictly conserved codon 218 (D218G) of the amino-terminal zinc finger loop of the transcription factor GATA1. Zinc finger interaction studies demonstrated that this mutation results in a weak loss of affinity of GATA1 for its essential cofactor FOG1, whereas direct D218G-GATA1 binding to DNA was normal. The phenotypic effects of this mutation in the patients' platelets have been studied. Semiquantitative RNA analysis, normalized for beta-actin messenger RNA, showed extremely low transcription of the GATA1 target genes GPIbbeta and GPIX but also a significantly lower expression of the nondirectly GATA1-regulated Gsalpha gene, suggestive of incomplete megakaryocyte maturation. In contrast, GPIIIa expression was close to normal in agreement with its early appearance during megakaryocyte differentiation. Flow cytometric analysis of patient platelets confirmed the existence of a platelet population with abnormal size distribution and reduced GPIb complex levels but with normal GPIIIa expression. It also showed the presence of very immature platelets lacking almost all membrane glycoproteins studied (GPIbalpha, GPIbbeta, GPIIIa, GPIX, and GPV). Patients' platelets showed weak ristocetin-induced agglutination, compatible with the disturbed GPIb complex. Accordingly, electron microscopy of the patients' platelets revealed giant platelets with cytoplasmic clusters consisting of smooth endoplasmic reticulum and abnormal membrane complexes. In conclusion, GATA1 mutations can lead to isolated X-linked macrothrombocytopenia without anemia.status: publishe

    Utility of focused cardiac ultrasonography training in veterinary students to differentiate stages of subclinical myxomatous mitral valve disease in dogs

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    Abstract Background Differentiation of the subclinical phases of myxomatous mitral valve disease (MMVD) in dogs relies heavily on echocardiography. Focused cardiac ultrasonography (FCU) is a point‐of‐care technique that can assess heart size. Hypothesis/Objectives Veterinary students trained in FCU can differentiate dogs with subclinical MMVD based on left ventricular (LV) and left atrial (LA) dimensions. Animals Forty‐eight dogs with subclinical MMVD. Methods Veterinary students were trained to measure LV dimension and LA‐to‐aortic root dimension ratio (LA : Ao) using FCU. Dogs were categorized into 2 cohorts based on whether or not the LV normalized internal diastolic dimension was ≥1.7 and LA : Ao was ≥1.6. Agreement between FCU and echocardiographic studies performed by cardiologists was evaluated. Results One‐hundred and forty‐six FCU examinations were performed by 58 veterinary students on 48 dogs. Overall agreement between students and cardiologists was moderate (Fleiss' kappa, 0.54; 95% confidence interval [CI], 0.39‐0.69; P < .001). Percentage accuracy in observations with heart dimensions less than the cutoffs (86/89, 97%) was significantly higher than in observations in with larger hearts (31/57, 54%; P < .001). Agreement increased from moderate to good as heart sizes became more extreme. Degree of confidence by students in performing FCU was significantly higher at the end vs start of the study. Conclusions and Clinical Importance Categorization of dogs with subclinical MMVD by veterinary students using FCU was associated with moderate to good agreement with echocardiography. Focused cardiac ultrasonography is a point‐of‐care method that can help assess clinical stage in dogs with subclinical MMVD
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