Clinical Heterogeneity and Different Phenotypes in Patients with Variants: 18 New Patients and Review of the Literature.

SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual developmental disorder, autosomal dominant 70 (MRD70), and Rabin-Pappas syndrome (RAPAS). LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spectrum disorder (ASD), macrocephaly, tall stature, and motor delay. RAPAS [MIM #6201551] is a recently reported multisystemic disorder characterized by severely impaired global and intellectual development, hypotonia, feeding difficulties with failure to thrive, microcephaly, and dysmorphic facial features.

Compensatory Mechanisms in Early Alzheimer's Disease and Clinical Setting: The Need for Novel Neuropsychological Strategies.

Despite advances in the detection of biomarkers and in the design of drugs that can slow the progression of Alzheimer's disease (AD), the underlying primary mechanisms have not been elucidated. The diagnosis of AD has notably improved with the development of neuroimaging techniques and cerebrospinal fluid biomarkers which have provided new information not available in the past. Although the diagnosis has advanced, there is a consensus among experts that, when making the diagnosis in a specific patient, many years have probably passed since the onset of the underlying processes, and it is very likely that the biomarkers in use and their cutoffs do not reflect the true critical points for establishing the precise stage of the ongoing disease.

Increased peripartum mortality associated with maternal subclinical malaria in Mozambique.

Background: Plasmodium falciparum infection in pregnant women in sub-Saharan Africa is often asymptomatic. As these forms of malaria are often submicroscopic and difficult to diagnose by conventional methods (microscopy and/or rapid diagnostic test), diagnosis requires the use of molecular techniques such as polymerase chain reaction (PCR). This study analyses the prevalence of subclinical malaria and its association with adverse maternal and neonatal outcomes, a topic that has been scarcely evaluated in the literature.

HPV self-sampling among cervical cancer screening users in Spain: A randomized clinical trial of on-site training to increase the acceptability.

A randomized clinical trial was conducted to compare the impact of two different instructions on vaginal self-sampling in its acceptability and willingness for future screening rounds among women attending cervical cancer screening (CCS). From November 2018 to May 2021, women aged 30-65 living in Spain attending CCS were randomized 1:1 in two arms. In the "On-site training arm (TRA)", women took a self-sample at the primary health care centre following provider's instructions.

Regulation of inflammation and protection against invasive pneumococcal infection by the long pentraxin PTX3.

is a major pathogen in children, elderly subjects, and immunodeficient patients. Pentraxin 3 (PTX3) is a fluid-phase pattern recognition molecule (PRM) involved in resistance to selected microbial agents and in regulation of inflammation. The present study was designed to assess the role of PTX3 in invasive pneumococcal infection.

Quality, Usability, and Effectiveness of mHealth Apps and the Role of Artificial Intelligence: Current Scenario and Challenges.

The use of artificial intelligence (AI) and big data in medicine has increased in recent years. Indeed, the use of AI in mobile health (mHealth) apps could considerably assist both individuals and health care professionals in the prevention and management of chronic diseases, in a person-centered manner. Nonetheless, there are several challenges that must be overcome to provide high-quality, usable, and effective mHealth apps.

First-trimester ventriculomegaly in fetuses with callosal agenesis: Cause or association?

The sonographic findings in four fetuses presenting with ventriculomegaly at first-trimester ultrasound that were subsequently diagnosed as having agenesis of the corpus callosum (ACC) are described. The diagnosis of early ventriculomegaly was suspected subjectively by identification of increased cerebrospinal fluid within the lateral ventricles and confirmed by measuring choroid plexus-to-lateral ventricle length and area ratios. Subsequent scans revealed complete ACC in two cases and partial ACC in the other two.

[Chemical pollution, exposome and health in the Canary Islands population: An assessment of the situation.].

Objective: The set of exposures to chemical substances and their role as a cause of disease gives rise to the concept of the exposome, partially made up of chemical pollutants to which an individual is exposed, which is why, unlike the genome, it is an a priori modifiable factor, its study being crucial in terms of Public Health. The population of the Canary Islands has been studied in terms of its levels of chemical contamination, with numerous biomonitoring studies, which makes it necessary to characterise its exposome and its consequences in terms of disease, in order to implement specific corrective measures to minimize the impact on its health.

Methods: A review of scientific literature (MEDLINE and Scopus) was made, according to PRISMA criteria and PICO methodology, to include studies on biomonitoring of pollutants, or evaluating the effect of pollutants on diseases prevalent in the archipelago.

Contact Allergy to Shellac. Retrospective Cross-Sectional Study With Data From the Spanish Registry of Research in Contact Dermatitis and Cutaneous Allergy (REIDAC).

Introduction: Shellac is a known allergen present mainly in cosmetics used on the eyelids and lips, although new sources of exposure have recently been described. Our objective was to assess the use of shellac as a contact allergen in Spain and the clinical profile of patients allergic to shellac.

Methods: This retrospective cross-sectional study included patients patch tested for shellac between 2018 and 2021 from the Spanish Registry of Contact Dermatitis and Cutaneous Allergy (REIDAC).

Home care needs of paediatric palliative patients perceived by professionals: A grounded theory.

Objective: To explore the elements involved in the process of paediatric palliative home care in the Spanish context according to the opinion of professionals.

Method: Qualitative study based on Grounded Theory, adjusted to COREQ standards, using theoretical sampling with in-depth interviews (June 2021-February 2022) with paediatricians, paediatric nurses and social workers from paediatric palliative care units in Spain, excluding professionals with less than 1 years' experience. Interviews were recorded and transcribed literally for coding and categorisation through a constant comparative process of code co-occurrence until data saturation using Atlas-Ti®.

Role of hysteroscopy during conservative management of atypical endometrial hyperplasia and early-stage endometrial cancer in patients who desire pregnancy.

Twenty-five percent of cases of endometrial cancer appear in women with unfulfilled reproductive desires An adequate selection of patients and a close hysteroscopic follow-up to monitor the endometrial response to the levonorgestrel-releasing intrauterine system (LNG-IUS) may be a valid and safe option for these patients This is a case series and review of the literature study. We included eight patients diagnosed of complex endometrial hyperplasia with atypia (CEHA) or stage 1AG1 well-differentiated endometrial cancer without myometrial invasion who desired to get pregnant and opted for a conservative treatment. Follow-up was performed with hysteroscopy and directed biopsy at 3, 6 and 12 months.

Coronary surgery provides better survival than drug-eluting stent: A pooled meta-analysis of Kaplan-Meier-derived individual patient data.

Objectives: We explored the current evidence on coronary disease treatment comparing the survival of 2 therapeutic strategies: coronary artery bypass grafting (CABG) and percutaneous coronary intervention (PCI) with drug-eluting stent (DES).

Methods: PubMed, Embase, and Google Scholar were searched for randomized clinical trials comparing CABG versus PCI with DES. The end point was overall mortality.

Antimicrobial Defined Daily Dose in Neonatal Population: Validation in the Clinical Practice.

Background: Currently, there is no validated method for estimating antimicrobial consumption in the neonatal population, as it exists for adults using Defined Daily Doses (DDD). In neonatology, although there are different methods, each one with advantages and disadvantages, there is no unified criterion for use. The aim of this study is to validate the neonatal DDD designed as a new standardised form of antimicrobial consumption over this population.

Association between endotypes of prematurity and pharmacological closure of patent ductus arteriosus: A systematic review and meta-analysis.

Introduction: Endotypes leading to very and extremely preterm birth are clustered into two groups: infection/inflammation and dysfunctional placentation. We conducted a systematic review of observational studies exploring the association between these two endotypes and the pharmacological closure of patent ductus arteriosus (PDA) induced by cyclooxygenase (COX) inhibitors. Chorioamnionitis represented the infectious-inflammatory endotype, while dysfunctional placentation proxies were hypertensive disorders of pregnancy (HDP) and small for gestational age (SGA) or intrauterine growth restriction.

Dysphagia in intensive care, a real problem: analysis of risk factors.

Aims: To identify risk factors present in patients with dysphagia in a population of critically ill patients.

Methods: Case series of a cohort of patients recruited in the intensive care unit (ICU) until hospital discharge. Patients who gave consent and met the inclusion criteria were recruited.

Identifying Adverse Events in Patients Hospitalized in Isolation or Quarantine Due to COVID-19.

Background: This study evaluated the adverse events of COVID-19 isolation or quarantine in patients with nosocomial SARS-CoV-2 infection admitted to the Hospital Universitario Insular de Gran Canaria.

Methods: This is a retrospective cohort study with 30-day follow-up of 126 patients diagnosed with nosocomial COVID-19 through polymerase chain reaction test, between May 1 and June 30, 2022, in a 500-bed university hospital in the island of Gran Canaria.

Results: Between May 1 and July 30, 2022, a total of 2250 patients were admitted to the Hospital Universitario Insular de Gran Canaria; 126 of them were diagnosed with nosocomial COVID-19 through a polymerase chain reaction test.

Association of patent ductus arteriosus with fetal factors and endotypes of prematurity.

During fetal life, the ductus arteriosus (DA) acquires the mechanisms for its postnatal closure following a thorough developmental program. This program can be interrupted by preterm birth and is also susceptible to alteration during fetal life by numerous physiological and pathological stimuli. In this review, we aim to summarize the evidence on how physiological and pathological factors affect DA development, eventually leading to patent DA (PDA).

Coeliac Disease Case-Control Study: Has the Time Come to Explore beyond Patients at Risk?

The worldwide prevalence of asymptomatic coeliac disease (CD) is increasing, which is in part due to the routine screening of children with risk factors. Both symptomatic and asymptomatic patients with CD are at risk of long-term complications. The objective of this study was to compare the clinical characteristics of asymptomatic and symptomatic children at the time of CD diagnosis.

Evaluation of persistent COVID and SARS-CoV-2 reinfection in a cohort of patients on the island of Gran Canaria, Spain.

Introduction: This study analyzed the impact of patients' age, sex, vaccination, immunosuppressive treatment, and previous comorbidities on the risk of developing persistent COVID-19 or SARS-CoV-2 virus reinfection.

Method: Population-based observational retrospective study of a cohort of 110,726 patients aged 12 years or older, who were diagnosed with COVID-19 between June 1st, 2021 and February 28th, 2022 in the island of Gran Canaria.

Results: 340 patients suffered reinfection.

"Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain".

Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.