Severe Hemolytic Anemia due to De novo Hemoglobin Sabine in an argentinian newborn: first case in South America

Hemoglobin (Hb) Sabine is an unstable Hb variant that causes hemolytic anemia in heterozygous state, with inclusion bodies in the red blood cells (RBC). This hemoglobin is the result of a point mutation at codon 91(CTG)(CCG) of the beta-globin gene. We report, for the first time in South America, the identification of Hb Sabine in a nine-month-old female baby, referred to our laboratory bearing a severe hemolytic anemia. We emphasize the need for the correct characterization of this unstable hemoglobin mainly for therapeutic purposes and for genetic counseling.Fil: Perez, Susana. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Bragós, Irma. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Raviola, Mariana. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Pratti, Arianna. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Detarsio, Germán. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Zirone, Sandra. Instituto Davoli; ArgentinaFil: Voss, María Eda. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Verón, Luciano. Instituto Davoli; ArgentinaFil: Acosta, Irma. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Ojeda, Mara Jorgelina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Rosario. Instituto de Fisiología Experimental (i); Argentin

Successful treatment with Omalizumab of a child affected by Systemic Mastocytosis: clinical and biological implications

Abstract Background Pediatric Mastocytosis is a rare and heterogeneous disease, characterized by accumulation of mast cells in the skin (Cutaneous Mastocytosis) and/or, less frequently, in other organs, mainly liver, spleen, bone marrow, lymph nodes and gastrointestinal tract (Systemic Mastocytosis). Patients affected by Systemic Mastocytosis show symptoms caused by  a massive release of mast cell mediators: itching, flushing, abdominal pain, generalized weakness, fatigue and neuropsychiatric disorders. Moreover, children with Systemic Mastocytosis are at greater risk of anaphylactic/anaphylactoid reactions, often poorly controlled by the conventional therapy with antihistamines, mast cells stabilizers and steroids. As a result, children affected by Systemic Mastocytosis have a poor quality of life and suffer the consequence of prolonged steroidal treatment. Case presentation A child with Systemic Mastocytosis and severe symptoms, refractory to symptomatic and steroidal therapy, has been successfully treated with Omalizumab, an anti-IgE monoclonal antibody usually employed in allergic patients with severe asthma and orticaria. The onset of clinical benefit of Omalizumab therapy was extraordinarily rapid, but proved to be strictly dependent on drug administration. The child has become completely and steadily asymptomatic. No other anaphylactic episodes have been reported. Steroid treatment could be definitively withdrawn after the second dose of Omalizumab, and all the other medications were later reduced. Twenty months after beginning, Omalizumab therapy is still ongoing with good symptomatology control; no side effects have been observed so far. Conclusions In our experience, Omalizumab is an effective treatment for children affected by Systemic Mastocytosis not responding to conventional medical treatments. The main strengths of this therapy are its rapid and extraordinary efficacy to control the severe mast cells mediator-related symptoms, the lack of side effects and its steroid-sparing effect. However, more extensive and controlled studies in pediatric patients affected by Systemic Mastocytosis are needed to substantiate these promising findings

Alpha hemoglobinophaties in Rosario, Argentina

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.   血红蛋白病是全世界最常见的隐性疾病。 尽管我们已对罗萨里奥β地中海贫血的分子基础作出阐述，但是α地中海贫血和α结构性变化的分子基础尚未得到阐明。 在本研究中，105例来自不同家庭转诊至我中心的个体因MCV低(15%而接受了α血红蛋白病调查。 他们中具有中间型地中海贫血临床表型的六例被诊断为Hb H病（五例）和Hb H样（一例）。 其中还包括一例通过血液学和分子研究证实具有镰状细胞特征的患者 。 我们能够在92例个体(87.6%)中识别出α珠蛋白基因突变：88例有α地中海贫血 ，3例有结构性变化，还有一例两者均有。 总计13例个体(12.4%)未被识别出有α珠蛋白突变。 本研究是第一项针对罗萨里奥α地中海贫血分子基础的研究

A ten-year geographic data set on the occurrence and abundance of macroinvertebrates in the River Po basin (Italy)

Rivers serve many societal functions and are one of the most intensively human influenced ecosystems worldwide, and, due to their importance, are included under the monitoring programs of the Water Framework Directive across Europe. Macroinvertebrates play an important role when monitoring running waters for the assessment of their environmental quality due to their reliability as bioindicators and utility in long-term studies. Macroinvertebrates do not constitute a systematic unit but they are formed by a set of different taxa, grouped according to taxonomic ranks, size and habitat preferences. They represent the base of the aquatic food chain, serving as a food source for amphibians, birds, reptiles, fish and humans, and contributing in the organic matter processing. Despite the large amount of data collected on Italian river macroinvertebrates and the increased interest in the study of this group, only few data are available for research scientist and managers. In this paper, we collected and homogenized knowledge on the presence, distribution and abundances of macroinvertebrates taxa inhabiting the River Po catchment (Northern Italy) in the last decade. The data set includes 130,727 records collected between 2007 and 2018 including 143 taxa of macroinvertebrates, mostly identified at family rank level. Moreover, the data set provides information on the geographic distribution of these families and their abundance by sub-catchment, altitude, meso- and micro-habitat.

A ten-year geographic data set on the occurrence and abundance of macroinvertebrates in the River Po basin (Italy)

Rivers serve many societal functions and are one of the most intensively human influenced ecosystems worldwide, and, due to their importance, are included under the monitoring programs of the Water Framework Directive across Europe. Macroinvertebrates play an important role when monitoring running waters for the assessment of their environmental quality due to their reliability as bioindicators and utility in long-term studies. Macroinvertebrates do not constitute a systematic unit but they are formed by a set of different taxa, grouped according to taxonomic ranks, size and habitat preferences. They represent the base of the aquatic food chain, serving as a food source for amphibians, birds, reptiles, fish and humans, and contributing in the organic matter processing. Despite the large amount of data collected on Italian river macroinvertebrates and the increased interest in the study of this group, only few data are available for research scientist and managers. In this paper, we collected and homogenized knowledge on the presence, distribution and abundances of macroinvertebrates taxa inhabiting the River Po catchment (Northern Italy) in the last decade. The data set includes 130,727 records collected between 2007 and 2018 including 143 taxa of macroinvertebrates, mostly identified at family rank level. Moreover, the data set provides information on the geographic distribution of these families and their abundance by sub-catchment, altitude, meso- and micro-habitat.