Publications by authors named "Pappalardo E"

Article Synopsis
  • Identifying and addressing social determinants of health (SDOH) during pre-conception is crucial for reducing disparities in maternal health, especially among disadvantaged groups, as factors like income and education impact pregnancy outcomes.
  • A study analyzed data from 1,512 pregnant women to classify them into groups based on socio-economic characteristics, revealing two distinct clusters with varying educational levels, employment status, and nutritional habits.
  • The findings showed that women in the lower socio-economic cluster experienced more negative neonatal outcomes, indicating a need for targeted public health interventions to improve maternal-infant health in these populations.
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  • Gene-gene interactions are believed to play a significant role in the development of multifactorial diseases like cerebral venous thrombosis (CVT), highlighting potential causes of unexplained heritability.
  • A study involving 882 CVT patients and 1,205 control participants found that specific gene variants significantly increased the likelihood of developing CVT, particularly when individuals had certain blood types.
  • The research concluded that the interactions between specific genes could raise the risk of CVT by as much as 14 times, underscoring the importance of understanding these genetic factors in disease etiology.
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  • - The study investigates how age, sex, and imaging features relate to coma in patients with cerebral venous thrombosis (CVT), using data from a large international study.
  • - Among 596 adult CVT patients, 8.9% experienced coma, with a higher prevalence in men (13.1%) compared to women (7.5%), despite CVT being more common in women.
  • - Findings suggest that male sex and older age are significant factors linked to coma in CVT cases, highlighting a complex interplay between gender and clinical outcomes.
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  • * Whole exome sequencing of a large Italian family revealed 20 genetic variants on chromosome 5, including a notable variant that may influence the expression of specific microRNAs (miR-143/145).
  • * Family members with the variant showed lower levels of miR-143/145 and higher levels of their target mRNA, and analysis with a larger dataset confirmed that this variant significantly affects miR-143 expression in a broader population.
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Limited evidence exists on the effects of maternal dietary patterns on birth weight, and most studies conducted so far did not adjust their findings for gestational age and sex, leading to potentially biased conclusions. In the present study, we applied a novel method, namely the clustering on principal components, to derive dietary patterns among 667 pregnant women from Catania (Italy) and to evaluate the associations with birth weight for gestational age. We identified two clusters reflecting distinct dietary patterns: the first one was mainly characterized by plant-based foods (e.

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  • Cerebral venous thrombosis (CVT) is a rare type of stroke primarily affecting young adults, and this study investigates how age and gender, along with specific risk factors, influence its onset.
  • Data were collected from a large, international study (BEAST) involving 1,309 CVT patients, revealing that the average age at onset for women is significantly younger (37 years) than for men (46 years).
  • Findings indicate that women with risk factors like pregnancy or oral contraceptive use experience CVT much earlier, sometimes up to 12 years before men, highlighting the critical role of gender in CVT onset.
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  • A study was conducted to assess the consistency of different judges when using a new rating scale for evaluating the quality of substitution voices in patients who underwent laryngectomy, alongside the patients' own perceptions of their vocal function.
  • The researchers gathered data from 89 laryngectomized patients using quality of life scales to analyze how different types of alaryngeal voices affect their communication experiences.
  • Findings indicated that while patients had similar perceptions of their quality of life regardless of voice type, the new rating scale was effective in analyzing vocal characteristics, highlighting the importance of helping patients adapt to their new way of speaking.
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Introduction: Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy.

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Background: Factor V Leiden (FVL) and factor II c.∗97G>A (rs1799963) are genetic risk factors for venous thromboembolism. Their contribution to coronary artery disease (CAD) is less clear.

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A maternal diet, before and during pregnancy, plays a key role in ensuring maternal and newborn health. The COVID-19 pandemic, however, may have compromised dietary habits in the general population and in specific subgroups of individuals. Here, we evaluated the impact of COVID-19 on the diet of pregnant women, using data from two mother-child cohorts in Sicily (Italy).

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Objective: Uterine rupture (UR) during pregnancy is an obstetric emergency that could determine poor maternal and neonatal outcomes. There are many factors that could increase the risk of UR, such as a previous myomectomy. The aim of this study is to evaluate the role of a previous myomectomy in a spontaneous UR in pregnancy.

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Article Synopsis
  • Inhibitor development in about 30% of severe haemophilia A patients is influenced by various environmental and genetic factors, particularly focusing on the benign rs3754689 variant in the LCT gene, which may indicate risk from neighboring genes.
  • The study aims to identify new genetic variants related to inhibitor development by analyzing the coding regions of specific genes, using targeted sequencing of 246 severe HA patients.
  • Although logistic regression identified several potential variants linked to inhibitor development, high false discovery rates and the lack of replication in a larger cohort suggest the need for further research to confirm their significance.
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Background: Remote Ischemic Conditioning (RIC) has been proposed as a therapeutic intervention to circumvent the ischemia/reperfusion injury (IRI) that is inherent to organ transplantation. Using a porcine kidney transplant model, we aimed to decipher the subclinical molecular effects of a RIC regime, compared to non-RIC controls.

Methods: Kidney pairs (n = 8 + 8) were extracted from brain dead donor pigs and transplanted in juvenile recipient pigs following a period of cold ischemia.

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Background And Aim: Myasthenia gravis (MG) is a B lymphocyte-mediated disease affecting neuromuscular transmission. The clinical course of MG is unpredictable due to the fluctuating nature and heterogeneity of the disease. Increased levels of free light chains (FLC), which reflect B cell activation, have been detected in different autoimmune disorders.

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Background: We previously described the association between rare ADAMTS13 single nucleotide variants (SNVs) and deep vein thrombosis (DVT). Moreover, DVT patients with at least one rare ADAMTS13 SNV had a lower ADAMTS13 activity than non-carriers.

Aims: To confirm ADAMTS13 variants association with DVT and reduced plasma ADAMTS13 activity levels in a larger population.

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The COVID-19 pandemic, coupled with significant social changes due to legislative and public health requirements, has changed the way in which people experience grief. We examined whether dysfunctional grief symptoms, disrupted meaning, risk factors, and functional impairment differed between people bereaved from COVID-19 and from other natural or violent causes in this same period. A sample of 409 participants (67.

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Article Synopsis
  • Cerebral venous thrombosis (CVT) is a rare type of stroke primarily affecting young people, and its genetic causes are not well understood.
  • A genome-wide association study involved 882 CVT patients and 1,205 matched controls to identify genetic factors associated with CVT risk.
  • Significant findings highlighted 37 SNPs linked to the 9q34.2 region, with blood groups A, B, or AB having a higher risk for CVT compared to blood group O, suggesting important genetic insights into the condition.
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Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening thrombotic microangiopathy caused by severe ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motifs 13) deficiency, recurring in 30-50% of patients. The common human leukocyte antigen (HLA) variant rs6903608 was found to be associated with prevalent iTTP, but whether this variant is associated with disease relapse is unknown. To estimate the impact of rs6903608 on iTTP onset and relapse, we performed a case-control and cohort study in 161 Italian patients with a first iTTP episode between 2002 and 2018, and in 456 Italian controls.

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Introduction: A caesarean scar pregnancy is a complex iatrogenic pathology, which represents a consequence of a previous caesarean section. It increased in recent years due to parallel increase of cesarean sections.

Material And Methods: We present a retrospective study on patients with caesarean scar pregnancy diagnosed in our department from June 2016 to June 2019.

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Introduction: Pregnancy- associated melanoma (PAM) is reported between 2.8 and 5.0 per 100,000 pregnancies and approximately 35% of women with melanoma are of childbearing age.

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The present study examined the psychometric properties of the Coronavirus Anxiety Scale (CAS) using an online survey of 398 adult Amazon MTurk workers in the U.S. Confirmatory factor analyses demonstrated that the CAS measures a reliable (α = 0.

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Objective: To assess the usefulness of the κ free light chain index (κFLCi) as a screening test to identify patients with suspected MS.

Methods: The study included 56 patients with a request to test for oligoclonal bands (OCBs). OCBs were detected by isoelectric focusing, followed by immunofixation.

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Background: General practitioners play an important role in diagnosis and ongoing management of pregnancies. Some GP registrars entering GP training may have had no post-graduate experience in obstetrics and gynaecology. GP registrars' involvement in antenatal care is under-researched.

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Primary platelet secretion defects constitute a heterogeneous group of functional defects characterized by reduced platelet granule secretion upon stimulation by different agonists. The clinical and laboratory heterogeneity of primary platelet secretion defects warrants a tailored approach. We performed a pilot study in order to develop DNA sequence analysis pipelines for gene discovery and to create a list of candidate causal genes for platelet secretion defects.

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Background: Cerebral vein thrombosis (CVT) is a rare, life-threatening disease affecting one adult per 100,000 per year. Genetic risk factors are deficiencies of the natural anticoagulant proteins antithrombin, protein C, protein S or single nucleotide polymorphisms such as factor V Leiden and prothrombin 20210A. In 20% of patients, the cause of CVT remains unknown.

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