Identification of a sialoglycopeptide released by self-digestion from human erythrocyte membranes

Membranes from human O Rhesus-positive erythrocyte 'ghosts' were tested in vitro for their ability to digest their own glycoproteins. 'Ghost' membranes incubated in Tris/HCl buffer, pH 7.4, release a sialoglycopeptide, which contains glucosamine, galactosamine, galactose and mainly polar amino acids. Chemical composition, molecular size and aggregation properties suggest that this glycopeptide may be a fragment of glycophorin

Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).

Congenital amegakaryocytic thrombocytopenia (CAMT, OMIM 604498) is an autosomal recessive disorder characterized by absent or reduced number of megakaryocytes in the bone marrow (BM) since birth, elevated serum levels of thrombopoietin (TPO), and very low platelet count. Prognosis of CAMT patient

pretreatment with the monoacylglycerol lipase inhibitor urb602 protects from the long term consequences of neonatal hypoxic ischemic brain injury in rats

Pretreatment with the monoacylglycerol lipase inhibitor URB602 protects from the long-term consequences of neonatal hypoxic–ischemic brain injury in rat

Existe relação da amplitude de distribuição das hemácias com a presença e gravidade da pré-eclâmpsia?

Introduction: Preeclampsia is one of the main causes of the maternal and perinatal mortality all over the world. The relationship between the amplitude of red cells distribution (Red Cell Distribution Width – RDW) and arterial hypertension is already well documented, though there is a shortage of data relating RDW with preeclampsia. Methods: Analytical observational study conducted in the years 2014 and 2015, composed by 108 patients in the study group (50 mild preeclampsia and 58 severe preeclampsia) and 101 patients in the control group. The hemoglobin, RDW, platelets and other hematological indices were measured as part of the automated hemogram. Results: There was no difference in RDW between the pregnant women in the control group and the ones in the mild preeclampsia group (14,68 ± 1,64 vs. 14,22 ± 1,87), the control group and the severe preeclampsia group (14,68 ± 1,64 vs. 14,24 ± 1,78) and the control group and preeclampsia group (14,68 ± 1,64 vs. 14,23 ± 1,81). Conclusion: The levels of maternal serum RDW are not associated with the presence of preeclampsia and the levels of its severity.Dissertação (Mestrado)Introdução: A pré-eclâmpsia é uma das principais causas de mortalidade materna e perinatal em todo o mundo. A relação entre a amplitude de distribuição das hemácias (Red Cell Distribution Width - RDW) e hipertensão arterial já está bem documentada, porém há uma escassez de dados relacionando RDW com pré-eclâmpsia. Material e métodos: Estudo observacional analítico retrospectivo, realizado no período de 2014 e 2015, composto por 108 participantes no grupo de estudo (50 pré-eclâmpsia leve e 58 pré-eclâmpsia grave) e 101 participantes no grupo controle. A hemoglobina, RDW, plaquetas e outros índices hematológicos foram medidos como parte do hemograma automatizado. Resultados: Não houve diferença no RDW entre as gestantes do grupo controle e grupo com pré-eclâmpsia leve (14,68 ± 1,64 vs. 14,22 ± 1,87; p=0,385), grupo controle e grupo com pré-eclâmpsia grave (14,68 ± 1,64 vs. 14,24 ± 1,78; p=0,386) e grupo controle e grupo com pré-eclâmpsia (14,68 ± 1,64 vs. 14,23 ± 1,81; p=0,063). Conclusão: Os níveis de RDW sérico materno não estão associados com a presença da pré-eclâmpsia e os graus de gravidade da doença

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited settings. To overcome this difficulty, we applied a diagnostic algorithm and developed a collaboration program with a specialized international center in order to increase the diagnostic yield in a cohort of patients in Argentina. Methods: Based on the algorithm, initial evaluation included collection of clinical data, platelet size, blood smear examination and platelet aggregation tests. Confirmatory tests were performed according to diagnostic suspicion, which included platelet glycoprotein expression, immunofluorescence for myosin- 9 in granulocytes and platelet thrombospondin-1 and molecular screening of candidate genes. Results: Thirty-one patients from 14 pedigrees were included; their median age was 32 (4?72) years and platelet count 72 (4?147) · 109 L)1. Autosomal dominant inheritance was found in nine (64%) pedigrees; 10 (71%) had large platelets and nine (29%) patients presented with syndromic forms. A definitive diagnosis was made in 10 of 14 pedigrees and comprised MYH9-related disease in four, while classic and monoallelic Bernard?Soulier syndrome, gray platelet syndrome, X-linked thrombocytopenia, thrombocytopenia 2 (ANKRD26 mutation) and familial platelet disorder with predisposition to acute myelogenous leukemia were diagnosed in one pedigree each. Conclusions: Adoption of an established diagnostic algorithm and collaboration with an expert referral center proved useful for diagnosis of IT patients in the setting of a developing country. This initiative may serve as a model to develop international networks with the goal of improving diagnosis and care of patients with these rare diseases.Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Pecci, Alessandro. Universita Degli Studi Di Pavia; ItaliaFil: de Rocco, Daniela. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; ItaliaFil: Gnan, Chiara. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; ItaliaFil: Espasandin, Yesica Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Goette, Nora Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Negro, F.. Instituto Médico Sagrado Corazón; ArgentinaFil: Noris, Patrizia. Universita Degli Studi Di Pavia; ItaliaFil: Savoia, Anna. Institute for Maternal and Child Health – IRCCS "Burlo Garofolo"; Italia. Università degli Studi di Trieste; ItaliaFil: Balduini, C. L.. Universita Degli Studi Di Pavia; ItaliaFil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentin

The use of a pocket-sized ultrasound device improves physical examination : results of an in- and outpatient cohort study

Background The performance of pocket mobile ultrasound devices (PUDs) is comparable with that of standard ultrasonography, whereas the accuracy of a physical examination is often poor requiring further tests to assess diagnostic hypotheses. Adding the use of PUD to physical examination could lead to an incremental benefit. Aim We assessed whether the use of PUD in the context of physical examination can reduce the prescription of additional tests when used by physicians in different clinical settings. Methods We conducted a cohort impact study in four hospital medical wards, one gastroenterological outpatient clinic, and 90 general practices in the same geographical area. The study involved 135 physicians who used PUD, after a short predefined training course, to examine 1962 consecutive patients with one of 10 diagnostic hypotheses: ascites, pleural effusion, pericardial effusion, urinary retention, urinary stones, gallstones, biliary-duct dilation, splenomegaly, abdominal mass, abdominal aortic aneurysm. According to the physicians' judgment, PUD examination could rule out or in the diagnostic hypothesis or require further testing; the concordance with the final diagnosis was assessed. The main outcome was the proportion of cases in which additional tests were required after PUD. The PUD diagnostic accuracy was assessed in patients submitted to further testing

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study.

The most frequent forms of inherited thrombocytopenia (IT) are characterized by platelet size abnormalities and it has been suggested that this parameter is useful for their differentiation from immune thrombocytopenia (ITP). Recently, a monocentric study identified cut-off values for mean platelet volume (MPV) and mean platelet diameter (MPD) with good diagnostic accuracy in this respect. To validate these cut-off values in a different and larger case series of patients, we enrolled 130 subjects with ITP and 113 with IT in six different centres. The platelet count and MPV was each measured by the instrument routinely used in each institution. In some centres, platelet count was also measured by optical microscopy. MPD was evaluated centrally by image analysis of peripheral blood films. The previously identified cut-off value for MPV had 91% specificity in distinguishing ITP from inherited macrothrombocytopenias (mono and biallelic Bernard-Soulier, MYH9-related disease), while its sensitivity was greatly variable depending on the instrument used. With an appropriate instrument, specificity was 83%. The diagnostic accuracy of MPD was lower than that obtained with MPV. We concluded that MPV is a useful parameter for differentiating ITP from IT provided that it is measured by appropriate cell counters