Present and future of aortic risk assessment in patients with heritable thoracic aortic diseases.

Heritable thoracic aortic diseases (HTAD) are a group of diverse genetic conditions characterized by an increased risk of aortic complications. The standard surveillance of these patients involves monitoring aortic diameters until a defined threshold is reached, at which point preventive aortic surgery is recommended. However, assessing aortic risk in these patients is far more complex and, in many aspects, remains incompletely understood.

Clinical Features and Outcomes of Pediatric -Related Dilated Cardiomyopathy.

Background: Although genetic variants in are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric -related DCM.

Methods And Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their decision are virtually non-existant in Europe. In this work, we report the acceptance rate of SFs, calculate their prevalence and study factors associated with the decision in a cohort of patients affected with a rare genetic disorder in a Spanish Hospital.

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been recently shown to be implicated in a phenotype with global developmental delay/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25-year-old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in PACS2.

Development of a new tool for predicting the behavior of individuals with intellectual disability in the dental office: A pilot study.

Background: The dental treatment of individuals with intellectual disability can represent a considerable professional challenge.

Objective: To develop a model for predicting the behavior of patients with intellectual disability in the dental office.

Methods: The study group comprised 250 patients with Down syndrome (DS), autism spectrum disorder (ASD), cerebral palsy (CP), idiopathic cognitive impairment or rare disorders.

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

Background: Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis.

Objectives: This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up.

Methods: This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance.

Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study.

Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis ( = 50) and DS patients with healthy periodontium ( = 36).

Aortic Branch Aneurysms and Vascular Risk in Patients With Marfan Syndrome.

Background: Aortic branch aneurysms are not included in the diagnostic criteria for Marfan syndrome (MFS); however, their prevalence and eventual prognostic significance are unknown.

Objectives: The goal of this study was to assess the prevalence of aortic branch aneurysms in MFS and their relationship with aortic prognosis.

Methods: MFS patients with a pathogenic FBN1 genetic variant and at least one magnetic resonance or computed tomography angiography study assessing aortic branches were included.

In Vitro Anti-Biofilm and Antibacterial Properties of sp. nov.

The aim of this study was to evaluate the potential anti-biofilm and antibacterial activities of sp. nov. To test anti-biofilm properties, and were grown in a biofilm model in the presence or not of sp.

Oral health needs of athletes with intellectual disability in Southern Europe: Greece, Italy and Spain.

Aims: The population with intellectual disabilities (ID) has been reported to be a vulnerable population in terms of oral health. The aims of this study were to evaluate the oral condition and treatment needs of Special Olympics (SO) athletes from Greece, Italy and Spain.

Methods And Results: A cross-sectional study was performed with data collected in annual SO events held in Greece, Italy and Spain, between 2010 and 2012.

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.

Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation.

Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018-2019.

Case report of segmental odontomaxillary dysplasia with cutaneous manifestations.

Background: Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed mainly based on dental (over-retention of primary teeth, dental agenesis and diastemas) and bone findings (bone sclerosis, irregular trabeculation of immature bone and reduced maxillary sinus). This paper provides a case report.

The Subgingival Microbiome in Patients with Down Syndrome and Periodontitis.

Objective: To describe the subgingival microbiome of individuals with Down syndrome (DS).

Methods: We conducted a cross-sectional observational study that obtained bacterial DNA samples from 50 patients with DS, 25 with periodontitis (PDS) and 25 with a healthy periodontal condition (HDS). The samples were analyzed by sequencing the 16S rRNA gene V3-V4 hypervariable region using the MiSeq System.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

"An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances.

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

Cyclophilins are a type of peptidyl-prolyl cis-trans isomerases. CWC27, one of the known human cyclophilins, is recruited by the spliceosome for the pre-mRNA splicing process. Biallelic deleterious variants in CWC27 lead to a spectrum of overlapping phenotypes including retinal degeneration, skeletal anomalies, short stature, and neurological defects.

Safe and Efficacious Use of 1-Month Triple Therapy in Patients with Atrial Fibrillation and High Bleeding Risk Undergoing PCI.

Background: The impact of short or prolonged use of triple therapy (TT) on outcomes in patients with atrial fibrillation (AF) and high risk of bleeding undergoing percutaneous coronary intervention (PCI) is unclear. We compared clinical outcomes according to the duration of TT in patients with AF and HAS-BLED ≥ 3 at 1 year of follow-up.

Methods: A prospective observational cohort enrolled 735 patients with AF between 2010 and 2015.

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker.

Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.We studied the prevalence of FD in 188 patients < 70 years with conduction problems requiring pacemaker implantation.

The effect of dentist experience on the treatment of individuals with disability under general anesthesia.

Aims: The aim of the present work was to assess in patients with severe disability operated under general anesthesia whether the progressive acquisition of experience by the dental team affects the type of procedure performed and the duration of operations.

Methods And Results: A study group of 911 patients who underwent dental treatment under general anesthesia between 1997 and 2014 was conformed. Information was collected from every patient including: dental diagnosis, dental procedures and duration of the operating times.

Brief Report: Estimating the Dental Age of Children with Autism Spectrum Disorders.

Determining a patient's dental age is essential from the dental standpoint but can also have connotations of a forensic, anthropological and medicolegal nature. In this study, we assessed the correspondence between dental age and chronological age in a group of 50 children with autism spectrum disorders, with a chronological age range of 3-17 years. The dental age was calculated using panoramic radiography images, applying linear regression models derived from the classical indices by Nolla and Demirjian.

Safety of drug-eluting stents compared to bare metal stents in patients with an indication for long-term oral anticoagulation: A propensity score matched analysis.

Background: Drug-eluting stents (DES) reduce stent restenosis compared with bare-metal stents (BMS). However, their use in patients requiring long-term oral anticoagulation (OAC) is controversial owing to increased risk of bleeding associated with OAC plus antiplatelet treatment over time.

Objective: To assess the safety of DES vs BMS in patients requiring long-term OAC for any reason.

Relationship between functional masticatory units and cognitive impairment in elderly persons.

Background: Studies on the elderly have reported that the risk of cognitive impairment is affected by chewing difficulty.

Objective: To determine whether there is a relationship between the number of pairs of antagonist teeth that come into contact when the mouth is closed (functional masticatory units [FMUs]) and the level of cognitive impairment.

Methods: We conducted a cross-sectional observational study with 502 institutionalised White individuals older than 65 years, living in the northwest of Spain and Portugal.