MUPen2DTool: A new Matlab Tool for 2D Nuclear Magnetic Resonance relaxation data inversion

A great variety of applications requires to process two-dimensional NMR (2DNMR) data to obtain information about the materials properties. In order to face the increasing request for software to easily process 2DNMR data, in (Bortolotti et al. (2019) [1]), the authors released Upen2dTool, an open source MATLAB software tool implementing nonnegatively constrained uniform penalty locally adapted norm-based regularization for 2DNMR data inversion. This paper presents MUPen2DTool a new open-source MATLAB software tool implementing an unconstrained multipenalty regularization method based on and norms. The new software MUPen2DTool outperforms Upen2dTool since the implemented uniform multipenalty method allows to compute very accurate 2DNMR data inversion at reduced computational cost. By means of MUPen2DTool, the user can choose among several types of NMR experiments, and the free software provides codes that can be used and extended easily. Furthermore, a MATLAB interface makes it easier to include users own data. The practical use is demonstrated in the reported examples of both synthetic and real NMR data

Acute myeloid leukemia in infants: biology and treatment

Children aged 0-2 years (i.e., infants) with acute myeloid leukemia (AML) are a peculiar subgroup of patients in the childhood AML scenario. They present with distinctive biological and clinical characteristics, including a high prevalence of prognostically unfavorable risk factors and an increased susceptibility to therapy-related toxicity. Remarkable improvements have been achieved over the last two decades in the treatment of these patients and their outcome is becoming superimposable to that of the older age groups. In this review, we will focus on peculiarities of this young subgroup of children with AML, describing their clinical presentation, the biology of disease, and factors influencing outcome. Treatment results and toxicity data reported by major collaborative groups are also summarized and compared

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature

open7noThis work was supported by EHA Junior Research Grant to Immacolata Andolfo (3978026), and by Bando Star Linea 1 - JUNIOR PRINCIPAL INVESTIGATOR GRANTS - COINOR, Università degli Studi di Napoli Federico II to Roberta Russo.Background: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in cellular cation content. The most frequent expression of the pathology is hemolytic well-compensated anemia with high reticulocyte count, a tendency to macrocytosis, increased mean corpuscular hemoglobin concentration (MCHC) and mild jaundice. We here describe a new mutation of PIEZO1 gene, the most frequent mutated gene in DHS, in a family affected by hereditary hemolytic anemia. Case presentation: We describe the case of a 12-years-old girl with well-compensated chronic hemolysis, increased MCHC and a father who had the same hematological characteristics. After excluding secondary causes of chronic hemolysis and enzymatic defects of the RBCs, microscopic observation of the peripheral blood smear, tests of RBC lysis, ektacytometry, SDS-PAGE and in last instance genetic analysis has been performed. This complex diagnostic workup identified a new variant in the PIEZO1 gene, never described in literature, causative of DHS. This pathogenetic variant was also detected in the father. Conclusions: This case report highlights the importance of a correct and exhaustive diagnostic-workup in patients with clinical suspicious for hemolytic anemia in order to make a differential diagnosis. This is relevant for the management of these patients because splenectomy is contraindicated in DHS due to high thrombotic risk.openZama D.; Giulietti G.; Muratore E.; Andolfo I.; Russo R.; Iolascon A.; Pession A.Zama D.; Giulietti G.; Muratore E.; Andolfo I.; Russo R.; Iolascon A.; Pession A

Perfluoroalkyl substances in human milk: A first survey in Italy

Due to their widespread diffusion, perfluoroalkyl substances (PFASs) have been frequently found in the environment and in several animal species. It has been demonstrated that they can easily reach also humans, mainly through diet. Being lactation a major route of elimination of these contaminants, their occurrence in human milk is of particular interest, especially considering that it generally represents the unique food source for newborns. Perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA), the two most important compounds of this family, have been frequently found in human milk at variable concentrations, but still limited data are available. The present study, the first conducted in Italy capable to detect these pollutants at ultra-trace levels by UPLC-MS/MS, confirmed the role of lactation as a relevant source of exposure for breastfed children. The measured concentrations ranged between 15 and 288 ng/L for PFOS and between 24 and 241 ng/L for PFOA. Moreover, mean concentrations and frequencies of both analytes resulted higher in milk samples provided by primiparous women, suggesting that the risk of intake might be higher for first-borns. Finally, comparing these results with previous data, PFOS gradual decrease over time since year 2000 was confirmed

Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease

Evans syndrome (ES) is a rare but challenging condition, characterized by recurrent and refractory cytopenia episodes. Recent discoveries highlighted that an appropriate diagnostic workup is fundamental to identify an underlying immune dysregulation such as primary immunodeficiencies or a rheumatological disease. We hereby describe clinical features and laboratory results of 12 pediatric patients affected by ES referred to the Pediatric Onco-Hematology Unit of Bologna. Patients experienced a median of four acute episodes of cytopenia with 9 years as median age at the onset of symptoms. In 8/12 (67%) patients an underlying etiology, primary immunodeficiencies, or rheumatological disease was identified. In 4/12 children, other immune manifestations were associated (Thyroiditis, Celiac disease, Psoriasis, Vitiligo, Myositis, Membranoproliferative Glomerulonephritis). ES remained the primary diagnosis in four patients (33%). At a median follow-up time of 4 years, 5/12 (42%) patients revealed a chronic ITP, partially responsive to second line therapy. Immunoglobulin Replacement Therapy (IRT) was effective with a good hematological values control in three patients with a secondary ES (ALPS, CVID, and a patient with Rubinstein Taybi Syndrome and a progressive severe B cell deficiency with hypogammaglobulinemia). Our experience highlights that, in pediatric patients, ES is often only the first manifestation of an immunological or rheumatological disease, especially when cytopenias are persistent or resistant to therapy, with an early-onset or when are associated with lymphadenopathy

The Relationship between Gut Microbiota and Respiratory Tract Infections in Childhood: A Narrative Review

Respiratory tract infections (RTIs) are common in childhood and represent one of the main causes of hospitalization in this population. In recent years, many studies have described the association between gut microbiota (GM) composition and RTIs in animal models. In particular, the “inter-talk” between GM and the immune system has recently been unveiled. However, the role of GM in human, and especially infantile, RTIs has not yet been fully established. In this narrative review we provide an up-to-date overview of the physiological pathways that explain how the GM shapes the immune system, potentially influencing the response to common childhood respiratory viral infections and compare studies analysing the relationship between GM composition and RTIs in children. Most studies provide evidence of GM dysbiosis, but it is not yet possible to identify a distinct bacterial signature associated with RTI predisposition. A better understanding of GM involvement in RTIs could lead to innovative integrated GM-based strategies for the prevention and treatment of RTIs in the paediatric population

Enteral nutrition protects children undergoing allogeneic hematopoietic stem cell transplantation from blood stream infections

Enteral Nutrition (EN) is recommended as first line nutritional support for patients undergoing Allogeneic Hematopoietic Stem Cell Transplantation (allo-HSCT), but only few studies exist in the literature which compare EN to Parenteral Nutrition (PN) in the paediatric population. Forty-two consecutive paediatric patients undergoing allo-HSCT at our referral centre between January 2016 and July 2019 were evaluated. Post-transplant and nutritional outcomes of patients receiving EN for more than 7 days (EN group, n = 14) were compared with those of patients receiving EN for fewer than 7 days or receiving only PN (PN group, n = 28). In the EN group, a reduced incidence of Blood Stream Infections (BSI) was observed (p = 0.02) (n = 2 vs. n = 15; 14.3% vs. 53.6%). The type of nutritional support was also the only variable independently associated with BSI in the multivariate analysis (p = 0.03). Platelet engraftment was shorter in the PN group than in the EN group for a threshold of > 20*109/L (p = 0.04) (23.1 vs 35.7 days), but this correlation was not confirmed with a threshold of > 50*109/L. The Body Mass Index (BMI) and the BMI Z-score were no different in the two groups from admission to discharge. Our results highlight that EN is a feasible and nutritionally adequate method of nutritional support for children undergoing allo-HSCT in line with the present literature. Future functional studies are needed to better address the hypothesis that greater intestinal eubyosis maintained with EN may explain the observed reduction in BSI

Gut microbiome in pediatric acute leukemia: From predisposition to cure

The gut microbiome (GM) has emerged as a key factor in the genesis and progression of many diseases. The intestinal bacterial composition also influences treatment-related side effects and even the efficacy of oncological therapies. Acute leukemia (AL) is the most common cancer among children and the most frequent cause of cancer-related death during childhood. Outcomes have improved considerably over the past 4 decades, with the current long-term survival for acute lymphoblastic leukemia being ∼90%. However, several acute toxicities and long-term sequelae are associated with the multimodal therapy protocols applied in these patients. Specific GM configurations could contribute to the multistep developmental hypothesis for leukemogenesis. Moreover, GM alterations occur during the AL therapeutic course and are associated with treatment-related complications, especially during hematopoietic stem cell transplantation. The GM perturbation could last even after the removal of microbiome-modifying factors, like antibiotics, chemotherapeutic drugs, or alloimmune reactions, contributing to several health-related issues in AL survivors. The purpose of this article is to provide a comprehensive review of the chronological changes of GM in children with AL, from predisposition to cure. The underpinning biological processes and the potential interventions to modulate the GM toward a potentially health-promoting configuration are also highlighted

Self-supervised Depth Estimation to Regularise Semantic Segmentation in Knee Arthroscopy

Intra-operative automatic semantic segmentation of knee joint structures can assist surgeons during knee arthroscopy in terms of situational awareness. However, due to poor imaging conditions (e.g., low texture, overexposure, etc.), automatic semantic segmentation is a challenging scenario, which justifies the scarce literature on this topic. In this paper, we propose a novel self-supervised monocular depth estimation to regularise the training of the semantic segmentation in knee arthroscopy. To further regularise the depth estimation, we propose the use of clean training images captured by the stereo arthroscope of routine objects (presenting none of the poor imaging conditions and with rich texture information) to pre-train the model. We fine-tune such model to produce both the semantic segmentation and self-supervised monocular depth using stereo arthroscopic images taken from inside the knee. Using a data set containing 3868 arthroscopic images captured during cadaveric knee arthroscopy with semantic segmentation annotations, 2000 stereo image pairs of cadaveric knee arthroscopy, and 2150 stereo image pairs of routine objects, we show that our semantic segmentation regularised by self-supervised depth estimation produces a more accurate segmentation than a state-of-the-art semantic segmentation approach modeled exclusively with semantic segmentation annotation.Comment: 10 pages, 6 figure