Critical analysis of moderate and severe retractions in the pars tensa and pars flaccida of the tympanic membrane.

Objectives: Analyze the prevalence of retractions in different areas of the Tympanic Membrane (TM), the correlations between the involvement of the Pars Tensa (PT) and Pars Flaccida (PF), and the air-bone gaps.

Methods: A cross-sectional study. Patients with moderate and/or severe TM retraction of 2200 consecutive patients with chronic otitis media between August 2000 and January 2019 were included.

Comparative analysis of moderate and severe tympanic membrane retractions in children and adults.

Objective: Owing to the limited literature demonstrating the correlation between the degree of severity of retractions and the degree of hearing loss in children and adults, the study aimed to compare the differences in the location, the severity, and the air-bone gap (ABG) of tympanic membrane (TM) retractions in children and adults.

Methods: Cross-sectional study, in a tertiary hospital. Consecutive patients with moderate or severe TM retractions (661 ears) between August 2000 and January 2019 were evaluated.

Audiometric Pattern in Moderate and Severe Tympanic Membrane Retraction.

Objective: To evaluate the audiometric pattern in moderate/severe retractions of the tympanic membrane and correlate it with the severity of the otoscopy findings.

Study Design: Cross-sectional study.

Setting: Tertiary hospital.

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 33 Italian PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed by direct sequencing of the patients' genomic DNA. Thirty-three different disease causing mutations were identified in our patient group, including 19 missense, 6 splicing, 3 nonsense, 5 deletions, with a detection rate of 100%.

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Classical phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are two phenotypes of phenylalanine hydroxylase (PAH) deficiency with different degrees of severity. We have analyzed three families in which classical PKU, MHP and a normal phenotype occurred within each family due to the different combinations of three mutations segregating within the family. Indeed, sequence PAH analysis revealed three different alleles segregating in each family.

Outcome of patients with splanchnic venous thrombosis presenting without overt MPN: a role for the JAK2 V617F mutation re-evaluation.

Introduction: Although investigation for JAK2 V617F mutation is recommended in patients presenting with splanchnic venous thrombosis (SVT), no specific clinical advice is given to SVT patients presenting without myeloproliferative neoplasms (MPN) and JAK2 V617F mutation. In MPN-free SVT patients, to investigate the clinical outcome, the clinical impact of re-evaluation for the JAK2 V617F mutation, and relationships with the occurrence and time to diagnosis of MPN.

Materials And Methods: A cohort of non-cirrhotic SVT patients, enrolled at a single centre and prospectively analyzed.

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Background: Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.

Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification.

Aim: Hemophilia A is an X-linked bleeding disorder caused by mutations widespread in the human coagulation F8 gene. Apart from common intrachromosomal translocations, most of the mutations in the F8 gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene can go undetected, especially in heterozygous females.

Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect?

A few considerations, which we found in the literature, inspired us to reevaluate patients previously investigated [characterized for beta-thalassemia (beta-thal) and hereditary hemochromatosis (HH) genes] by our department at Medical Genetics, School of Medicine, University of Foggia, Italy.

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.

Hemophilia A is an X-linked bleeding disorder caused by widespread mutations in the human coagulation factor 8 gene. We have searched for mutations in factor 8 gene DNAs from 40 unrelated Italian patients with hemophilia A. All patients came from the same region (Calabria) and were followed-up at the same hemophilia center.