Publications by authors named "Giuseppi A"

Objectives: To prospectively assess, using polysomnography (PSG), the evolution in obstructive sleep apnea (OSA) in infants with Robin Sequence (RS) during their first year of life and to evaluate the role of PSG in OSA treatment.

Methods: Prospective and longitudinal study conducted in 2 tertiary hospitals (2018-2021). Data from 2 PSG (PSG1 0-3 months of life, PSG2 6-10 months of life) performed in RS infants in different sleep positions/conditions (without treatment: supine [SP]; with treatment: lateral [LP], prone [PP], respiratory support) were analyzed.

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  • Infants with severe epidermolysis bullosa (EB) often face dehydration and malnutrition, but their nutritional needs are not well studied.
  • A study looked at 27 newborns with EB to assess their nutritional status and found many had low sodium levels and needed extra fluids and sodium.
  • The results suggest that these infants require higher food and nutrient intake than usual to grow properly and stay healthy, especially during their first month of life.
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  • The ACE-536-MF-001 trial studied the effects of luspatercept on myelofibrosis patients, enrolling 95 participants divided into four groups based on their dependency on transfusions and anemia status.
  • The primary outcome measured was the anemia response rate, where 14%-26% of patients met the criteria based on their cohort, with significant hemoglobin increases noted, particularly in non-transfusion dependent patients.
  • Adverse events were common, with 94% of patients experiencing at least one; the most frequent were hypertension and other manageable issues, while the treatment showed consistent efficacy and safety results similar to previous studies.
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Portal hypertension is a complex medical condition characterized by elevated blood pressure in the portal venous system. The conventional diagnosis of such disease often involves invasive procedures such as liver biopsy, endoscopy, or imaging techniques with contrast agents, which can be uncomfortable for patients and carry inherent risks. This study presents a deep neural network method in support of the non-invasive diagnosis of portal hypertension in patients with chronic liver diseases.

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Background: The management of posterior urethral valve (PUV) in neonates requires close monitoring in the intensive care unit because of the risk of post-obstructive diuresis (POD). Our aim was to describe the incidence and factors associated with POD in newborns treated for PUV.

Methods: Retrospective analysis of the medical records of all neonates who underwent surgical intervention for PUV in our neonatal intensive care unit between January 2014 and April 2021.

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Data-driven algorithms have proven to be effective for a variety of medical tasks, including disease categorization and prediction, personalized medicine design, and imaging diagnostics. Although their performance is frequently on par with that of clinicians, their widespread use is constrained by a number of obstacles, including the requirement for high-quality data that are typical of the population, the difficulty of explaining how they operate, and ethical and regulatory concerns. The use of data augmentation and synthetic data generation methodologies, such as federated learning and explainable artificial intelligence ones, could provide a viable solution to the current issues, facilitating the widespread application of artificial intelligence algorithms in the clinical application domain and reducing the time needed for prevention, diagnosis, and prognosis by up to 70%.

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Background: Erythropoiesis-stimulating agents (ESAs) are the standard-of-care treatment for anaemia in most patients with lower-risk myelodysplastic syndromes but responses are limited and transient. Luspatercept promotes late-stage erythroid maturation and has shown durable clinical efficacy in patients with lower-risk myelodysplastic syndromes. In this study, we report the results of a prespecified interim analysis of luspatercept versus epoetin alfa for the treatment of anaemia due to lower-risk myelodysplastic syndromes in the phase 3 COMMANDS trial.

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  • Some children who have surgery for a condition called esophageal atresia (where the esophagus doesn't connect properly) can have serious health problems later on, especially if they had a complicated surgery.
  • In a study of 150 newborns who had surgery, 30% had major health issues by the time they were 2 years old, and some sadly passed away.
  • The study found that kids who needed a ventilator for more than 8 days or couldn't eat by mouth before going home were more likely to have bad health outcomes, suggesting ways doctors can improve care for these children.
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This study aims at the implementation of an Artificial Intelligence approach to the use of music for supporting the neurorehabilitation of children with brain injuries or neurological difficulties.The output of this study will be the implementation of an app for mobile devices with games to be played by pediatric patients, allowing time for their cognitive and motor abilities to recover while enjoying pleasant activities. In particular, a Neural Network Classification approach is proposed in order to automatically adapt the game difficulty to the current cognitive capabilities of the child.

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Late neurocognitive sequelae are common among long-term brain tumour survivors, resulting in significantly worse quality of life. Cognitive rehabilitation through specific APP/software for PC/tablets represents an innovative intervention spreading in recent years. In this study, we aim to review the current evidence and trends regarding these innovative approaches.

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Background: In patients with non-transfusion-dependent β-thalassaemia, haemoglobin concentrations lower than 10 g/dL are associated with a higher risk of morbidity, mortality, and impaired quality of life. No drugs are specifically approved for anaemia management in patients with non-transfusion-dependent β-thalassaemia, other than transfusion therapy administered infrequently in accordance with patients' needs. We assessed the efficacy and safety of luspatercept versus placebo in patients with non-transfusion-dependent β-thalassaemia.

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Bifidobacterial population dynamics were investigated using a longitudinal analysis of dominant species isolated from feces of neonates born preterm (singletons ( = 10), pairs of twins ( = 11)) from birth up to 16 months of age. We performed quantification, isolation, and identification of the dominant bifidobacteria strains. The genetic relationship of the isolates was investigated via pulsed field gel electrophoresis (PFGE) genotyping, and PCR was used to screen the specific genetic marker genes.

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Objective: To identify prenatal and neonatal predictors of short bowel syndrome-related intestinal failure (SBS-IF) in gastroschisis.

Study Design: This retrospective study included all patients with gastroschisis born between 2000 and 2017 who were enrolled in our home parenteral nutrition program, and all patients with gastroschisis born in our institution who survived 2 weeks, during the same time period. Prenatal ultrasound features, neonatal status, anatomic features, oral feeding, and parenteral nutrition dependency were analyzed.

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In the last few years, with the exponential diffusion of smartphones, services for turn-by-turn navigation have seen a surge in popularity. Current solutions available in the market allow the user to select via an interface the desired transportation mode, for which an optimal route is then computed. Automatically recognizing the transportation system that the user is travelling by allows to dynamically control, and consequently update, the route proposed to the user.

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  • β-Thalassemia is a genetic blood disorder that causes issues with hemoglobin production, leading to the need for regular blood transfusions and potential complications like iron overload.
  • Luspatercept is the first approved therapy in the U.S. that helps improve anemia in adult patients with β-thalassemia who rely on these transfusions, showing effective dosage and reduced transfusion needs.
  • Studies indicate that luspatercept has a favorable safety profile and its administration is based on body weight, making it a promising alternative therapy for managing β-thalassemia.
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  • Luspatercept is a fusion protein that helps improve late-stage red blood cell development and has been studied in 260 patients with anemia from myelodysplastic syndromes.
  • The drug has predictable pharmacokinetics and its dosage varies from 0.125 to 1.75 mg/kg, with body weight being the main factor for determining the correct dose.
  • The findings indicate that higher serum levels of luspatercept improve the chances of patients achieving transfusion independence and experiencing fewer severe side effects, supporting a dose range of 1.0 to 1.75 mg/kg for effective long-term treatment.
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Aim: Very preterm birth is associated with a high risk of enteropathies. Diagnosis is challenging, especially in mild forms, leading to unnecessary periods of cessation of enteral feeding. This study aimed at establishing a prognosis score of enteropathy combining clinical parameters and faecal calprotectin concentration.

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  • This study focused on the effects of sotatercept on patients with end-stage kidney disease (ESKD), addressing anemia, mineral bone disorder, and cardiovascular disease.
  • Two phase II clinical trials, REN-001 and REN-002, demonstrated that sotatercept increased hemoglobin levels in a dose-dependent manner and showed some positive effects on bone mineral density and vascular calcification.
  • Overall, sotatercept was found to be safe with common side effects like hypertension and headaches, and it slowed vascular calcification, although improvements in hemoglobin concentration and bone density were less consistent.
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Objectives: Giant omphalocele often represents a major surgical challenge and is reported with high mortality and morbidity rates. The aim of this study was to assess the outcome of neonates with giant omphalocele managed with early operative surgical treatment, and subsequently to identify possible factors that could alter the prognosis.

Methods: We reviewed the medical records of 29 consecutive newborns with prenatally diagnosed giant omphalocele.

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Objectives: Congenital chylothorax is a rare disease and prognostic factors are key element in properly informing parents. This study aimed at determining the prenatal factors associated with neonatal survival in a cohort of liveborn infants with congenital chylothorax.

Study Design: Observational monocentric cohort study including all liveborn neonates consecutively admitted for congenital chylothorax.

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Background: Complete intestinal volvulus is mainly related to congenital anomalies of the so-called intestinal malrotation, whereas segmental volvulus appears as a distinct entity, mostly observed during the perinatal period. Because these two situations are still lumped together, the aim of this study was to describe the particular condition of neonatal segmental volvulus.

Study Design: We analyzed the circumstances of diagnosis and management of 17 consecutives neonates operated for segmental volvulus more than a 10-year period in a single institution.

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Background: To reach nutritional standards, human milk has to have 2g/dL of protein. In 2013, Lafeber stated that when human milk is fortified up to 2g/dL, it may increase its osmolality up to 500 mOsm/kg. He also warned that care must be taken when adding a drug or vitamins to human milk.

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Objective: To review prevalence, management and prognostic factors of pulmonary stenosis (PS) in monochorionic diamniotic (MCDA) pregnancies complicated by twin-to-twin transfusion syndrome (TTTS).

Methods: Retrospective study over the last 10 years in a single referral center. We reviewed fetal echocardiography data of all MC twin cases with diagnosis of isolated PS.

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