Parvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.

Parvovirus B19 (B19V) is a significant pathogen responsible for a wide range of clinical manifestations, particularly in children and pregnant women. While B19V is most commonly recognized as the cause of Fifth disease, a mild erythematous illness in children, its clinical impact extends far beyond this condition. B19V can lead to severe complications, including transient aplastic crisis in individuals with chronic hemolytic anemias, arthralgia, and more severe joint diseases.

Increased risk of kidney failure in patients with genetic kidney disorders.

BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).

Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?

Regulatory agencies have recently discouraged the prescription of topiramate (TPM) to women of childbearing potential with epilepsy due to growing evidence of the teratogenic and neurodevelopmental risks associated with its use during pregnancy. It remains, however, unclear whether the use of TPM in this population can be supported to some extent by its high effectiveness. In this multicenter, retrospective, cohort study performed at 22 epilepsy centers, we investigated the comparative effectiveness of TPM and levetiracetam (LEV) given as first-line antiseizure medication in a cohort of women of childbearing potential with idiopathic generalized epilepsy (IGE).

Blind people can actively manipulate virtual objects with a novel tactile device.

Frequently in rehabilitation, visually impaired persons are passive agents of exercises with fixed environmental constraints. In fact, a printed tactile map, i.e.

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 genes for monogenic disorders associated with liver phenotypes and analyzed ES data for these genes in 758 patients with chronic liver diseases (CLD). For comparison, we examined ES data in 7856 self-declared healthy controls (HC), and 2187 patients with chronic kidney disease (CKD).

Levetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy.

Importance: After the recent limitations to prescribing valproate, many studies have highlighted the challenging management of female patients of reproductive age with idiopathic generalized epilepsy (IGE). However, no study, to the authors' knowledge, has addressed the comparative effectiveness of alternative antiseizure medications (ASMs) in these patients.

Objective: To compare the effectiveness and safety of levetiracetam and lamotrigine as initial monotherapy in female patients of childbearing age with IGE.

The causal role of vision in the development of spatial coordinates: Evidence from visually impaired children.

Many findings suggest that visual deprivation in early life negatively affects the development of spatial competence and that sighted and visually impaired individuals use different strategies to encode spatial positions. This study aims to assess the role of vision in developing spatial coordinates by running three studies in a sample of children and adolescents with and without visual impairments ( = 42, 16 female, 8-18 years old, 100% European), using visual and auditory versions of Simon task with uncrossed and crossed hands posture. The first study assessed that visual and auditory external coordinates mature in parallel in sighted children.

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Significance Statement: Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic architecture of COU is largely unknown. Comprehensive genomic screening study of 733 cases with three distinct COU subphenotypes revealed disease etiology in 10.

Visual Telerehabilitation with Visually Impaired Children: From the Pandemic Emergency to a Stand-Alone Method.

In the last two years, orthoptists have counteracted patient drop-out through visual telerehabilitation. Efforts were made to transfer the in-person visual rehabilitation setting to the telematic environment in response to the worldwide crisis. Nowadays, statistical evidence on the effects of visual telerehabilitation is still scarce.

Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.

Significance Statement: APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence of modifiers of the APOL1 effect. We show that a diverse population of CKD patients with high-risk APOL1 genotypes have an increased lifetime risk of kidney failure and higher eGFR decline rates, with a graded risk among specific high-risk genotypes. CKD patients with high-risk APOL1 genotypes have a lower diagnostic yield for monogenic kidney disease.

Air Pollution and Aeroallergens as Possible Triggers in Preterm Birth Delivery.

Preterm birth (PTB) identifies infants prematurely born <37 weeks/gestation and is one of the main causes of infant mortality. PTB has been linked to air pollution exposure, but its timing is still unclear and neglects the acute nature of delivery and its association with short-term effects. We analyzed 3 years of birth data (2015−2017) in Turin (Italy) and the relationships with proinflammatory chemicals (PM2.

Early visual deprivation disrupts the mental representation of numbers in visually impaired children.

Several shreds of evidence indicate that visual deprivation does not alter numerical competence neither in adults nor in children. However, studies reporting non-impaired numerical abilities in the visually impaired population present some limitations: (a) they mainly assessed the ability to process numbers (e.g.

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.

Objective: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.

Spatial Memory and Blindness: The Role of Visual Loss on the Exploration and Memorization of Spatialized Sounds.

Spatial memory relies on encoding, storing, and retrieval of knowledge about objects' positions in their surrounding environment. Blind people have to rely on sensory modalities other than vision to memorize items that are spatially displaced, however, to date, very little is known about the influence of early visual deprivation on a person's ability to remember and process sound locations. To fill this gap, we tested sighted and congenitally blind adults and adolescents in an audio-spatial memory task inspired by the classical card game "Memory.

Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.

Background And Objectives: Eyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of patients with EMA.

Methods: In this multicenter retrospective study, patients with EMA with ≥5 years of follow-up were included.

The formation of SCEs as an effect of occupational exposure to formaldehyde.

Formaldehyde (FA) is a ubiquitous toxic chemical employed worldwide due to its disinfectant and preservative properties. Despite being classified as a human carcinogen, FA is still employed as formalin in pathology wards as standard fixative. We evaluated its relationship with the formation of sister-chromatid exchanges (SCEs) in cultured peripheral blood lymphocytes on 57 pathologists and 48 controls and the risk/protective role played by several genetic polymorphisms.

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.

Purpose: The goal of stratified medicine is to identify subgroups of patients with similar disease mechanisms and specific responses to treatments. To prepare for stratified clinical trials, genome-wide genetic analysis should occur across clinical areas to identify undiagnosed genetic diseases and new genetic causes of disease.

Methods: To advance genetically stratified medicine, we have developed and implemented broad exome sequencing infrastructure and research protocols at Columbia University Irving Medical Center/NewYork-Presbyterian Hospital.

The role of phase I, phase II, and DNA-repair gene polymorphisms in the damage induced by formaldehyde in pathologists.

Formaldehyde (FA) is a human carcinogen used as formalin in hospital laboratories. We evaluated its association with human chromosomal aberrations (CAs) and the risk/protective role played by several genetic polymorphisms in this relationship, on a cohort of 57 exposed pathologists vs 48 controls. All subjects were assessed for CAs on peripheral blood lymphocytes and genotyped for the most common cancer-associated gene polymorphisms which could be related with the genotoxic outcome: CYP1A1 exon 7 (A>G), CYP1A1*2A (T>C), CYP2C19*2 (G>A), GSTT1 (Positive/Null), GSTM1 (Positive/null), GSTP1 (A>G), XRCC1 (G399A), XRCC1 (C194T), XRCC1 (A280G), XPD (A751C), XPC exon 15 (A939C), XPC exon 9 (C499T), TNFα - 308 (G>A), IL10 - 1082 (G>A), IL10 - 819 (C>T) and IL6 - 174 (G>C).