Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero.

Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero.

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA-ribosiduria) is an extremely rare inborn error of purine biosynthesis metabolism caused by pathogenic variants in ATIC gene that encodes a protein catalyzing the last steps of the de novo purine biosynthesis. To date, only six cases have been reported presenting a severe phenotype characterized by coarse facies and variable dysmorphic features, intrauterine and postnatal growth retardation, severe and early neurodevelopment delay, profound congenital visual deficit, scoliosis and, less frequently, epilepsy, aortic coarctation, chronic hepatic cytolysis, nephrocalcinosis and mild genitalia malformation. In this article, we report two new cases of AICA-ribosiduria carrying new pathogenic variants in ATIC (c.

Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.

Purpose: According to the American College of Medical Genetics (ACMG) classification, variants of uncertain significance (VUS) are gene variations whose impact on the disease risk is not yet known. VUS, therefore, represent an unmet need for genetic counselling. Aim of the study is the use the AlphaFold artificial intelligence algorithm to predict the impact of novel mutations of the IGFALS gene, detected in a subject with short stature and initially classified as VUS according to the ACMG classification.

A spotlight on analytical prospects in food allergens: From emerging allergens and novel foods to bioplastics and plant-based sustainable food contact materials.

The present review throws a spotlight on new and emerging food safety concerns in view of a well-established food allergen risk arising from global socio-economic changes, international trade, circular economy, environmental sustainability, and upcycling. Food culture globalization needs harmonization of regulations, technical specifications, and reference materials towards mutually recognised results. In parallel, routine laboratories require high-throughput reliable analytical strategies, even in-situ testing devices, to test both food products and food contact surfaces for residual allergens.

Age-Related Effects on the Spectrum of Cerebral Visual Impairment in Children With Cerebral Palsy.

Background: Cerebral Visual Impairment (CVI) is a very common finding in children affected by Cerebral Palsy (CP). In this paper we studied the characteristics of CVI of a large group of children with CP and CVI, describing their neurovisual profiles according to three different age subgroups (subgroup 1: infants 6 months-2 years; subgroup 2: pre-school age 3-5 years; subgroup 3: school age ≥ 6 years).

Methods: We enrolled 180 subjects (104 males, mean age 66 ± 42.

Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer.

Unlabelled: Liquid biopsy-based biomarkers, including circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA), are increasingly important for the characterization of metastatic breast cancer (MBC). The aim of the study was to explore CTCs and ctDNA dynamics to better understand their potentially complementary role in describing MBC.

Methods: The study retrospectively analyzed 107 patients with MBC characterized with paired CTCs and ctDNA assessments and a second prospective cohort, which enrolled 48 patients with MBC.

Overview of Native Chicken Breeds in Italy: Small Scale Production and Marketing.

The intensive use of high-performing strains in poultry production has led to the extinction of several autochthonous chicken breeds and, consequently, loss of genetic variability. Interest in saving biodiversity is growing rapidly and has become a major objective worldwide. The aim of this study was to shed light on the production trends of native Italian poultry breeds and the related market.

Overview of Native Chicken Breeds in Italy: Conservation Status and Rearing Systems in Use.

The most reared species of farm animal around the world is the chicken. However, the intensification of livestock systems has led to a gradual increase in the concentration of a limited number of breeds, resulting in substantial erosion to the genetic pool. The initial step of an 'animal conservation program' entails establishing the actual conservation statuses of the breeds concerned in a defined area; in this case, in Italy.

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.

The Silver-Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial dysmorphisms, and body asymmetry. Genetic alterations causative of SRS mostly affect imprinted genes located on chromosomes 7 or 11. Hypomethylation of the Imprinting Center 1 (IC1) of the chromosome 11p15.

Plasma-Based Longitudinal Evaluation of Epigenetic Status in Hormone Receptor-Positive HER2-Negative Metastatic Breast Cancer.

Background: Endocrine therapy (ET) is the mainstay of treatment for hormone receptor-positive human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer; however, adaptive mechanisms emerge in about 25-30% of cases through alterations in the estrogen receptor ligand-binding domain, with a consequent ligand-independent estrogen receptor activity. Epigenetic-mediated events are less known and potentially involved in alternative mechanisms of resistance. The aim of this study was to test the feasibility of () epigenetic characterization through liquid biopsy and to show its potential longitudinal application for an early ET sensitivity assessment.

Epidemiological and clinical assessment of patients undergoing Videolaparoscopic Cholecystectomy at a Curitiba teaching hospital.

Objective: to assess clinical and epidemiological factors of patients undergoing video cholecystectomy at the Hospital da Cruz Vermelha do Paraná, Curitiba unit, operated from September 2016 to September 2018, as well as the influence of comorbidities, sex and advanced age on the postoperative prognosis, while in the hospital.

Methods: Analytic retrospective study. The analyzed variables were obtained by the review of medical records.

Performance of Slow-Growing Male Muscovy Ducks Exposed to Different Dietary Levels of Quebracho Tannin.

The study of the nutritional effects of tannins is complex due to the large chemical diversity; consequently, in poultry nutrition the biological responses may vary greatly. The aim of the present study was to evaluate the effect of different levels of dietary Quebracho tannins (QT) on growth and production performance in slow-growing type Muscovy ducks. For this purpose, a 42-d trial was carried out on 126 male ducks (42-d old at start), fed on three levels of dietary QT inclusion in the diet (0% as control diet, vs.

Effects of Dietary Quebracho Tannin on Performance Traits and Parasite Load in an Italian Slow-Growing Chicken (White Livorno Breed).

Tannins have shown numerous biological activities and are very appreciated in food animal production, especially for their antimicrobial, antiparasitic, antioxidant, anti-inflammatory and antivirus effects. The aim of the present study was to evaluate the effect of two levels of dietary Quebracho tannin (QT) on growth and performance traits, and possible effects on intestinal parasite load in Italian White Livorno pullets. A 140-day trial was carried out on 180 35-day-old females, fed on two levels of dietary QT inclusion: 0%, 1% and 2%.

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Background: Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.

Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder.

Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene.

Neurovisual Assessment in Children with Ataxia Telangiectasia.

Aim: Visual impairment is present in almost all patients with ataxia telangiectasia (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and oculomotor abnormal movements. The purpose of this observational study was to describe visual disorders, notably oculomotor impairment, in a sample of children with AT.

Methods: Fifteen AT patients (mean age 12 years and 4 months) underwent a neurovisual evaluation, particularly focused on oculomotor functions (fixation, smooth pursuit, saccades, and abnormal ocular movements).

A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma.

Circadian clock regulation in mammals is controlled by feedback loops of a set of circadian genes. One of these circadian genes, NPAS2, encodes for a member of the bHLH-PAS class of transcription factors and is expressed in the forebrain and in some peripheral organs such as liver and skin. Other biological processes are also regulated by circadian genes.

Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.

The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities. In this study, we describe a family in which array-CGH analysis revealed the presence of an interstitial microdeletion spanning approximately 2.

A CGH array procedure to detect PAX6 gene structural defects.

Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises.

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

Purpose: To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to 1:100,000. The disease may be found isolated or in association with other syndromes characterized by partial or complete absence of the iris and iris hypoplasia.

Methods: We analyzed the PAX6 gene in 11 patients with aniridia fulfilling the following inclusion criteria: partial or complete absence of the iris and age < 18 years at the time of diagnosis.

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

Background: Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene.