Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.

Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD. The following study aims, firstly, to explore the factors that might influence professionals' decisions about the appropriateness of requesting genetic testing for their patients with ASD and, secondly, to determine the prevalence of genetic alterations in a representative sample of children with a diagnosis of ASD. Methods: We studied the clinical factors associated with the request for genetic testing in a sample of 440 children with ASD and the clinical factors of present genetic alterations.

Abemaciclib as adjuvant treatment for high-risk early breast cancer.

Objective: To adapt the GHEMA report of abemaciclib, an inhibitor of cyclin-dependent kinases 4 and 6. European Medicines Agency authorisation (April 2022) includes, in combination with endocrine therapy, the adjuvant treatment of adult patients with hormone receptor positive, human epidermal growth factor receptor 2 negative, node-positive, early breast cancer at high risk of recurrence.

Method: The efficacy and safety of abemaciclib were evaluated in a randomized, open-label and multicenter phase III study.

Effects of three spontaneous ventilation modes on respiratory drive and muscle effort in COVID-19 pneumonia patients.

Background: High drive and high effort during spontaneous breathing can generate patient self-inflicted lung injury (P-SILI) due to uncontrolled high transpulmonary and transvascular pressures, with deterioration of respiratory failure. P-SILI has been demonstrated in experimental studies and supported in recent computational models. Different treatment strategies have been proposed according to the phenotype of elastance of the respiratory system (Ers) for patients with COVID-19.

Estimation of the Overuse of Preoperative Chest X-rays According to "Choosing Wisely", "No Hacer", and "Essencial" Initiatives: Are They Equally Applicable and Comparable?

Background: Overuse reduces the efficiency of healthcare systems and compromises patient safety. Different institutions have issued recommendations on the indication of preoperative chest X-rays, but the degree of compliance with these recommendations is unknown. This study investigates the frequency and characteristics of the inappropriateness of this practice.

[Binge drinking: the challenges of definition and its impact on health.].

Heavy episodic drinking, or binge drinking, is a drinking pattern characterized by the intake of large amounts of alcohol in a short period of time, which often leads to alcohol intoxication. There is no consensus on its operational definition, finding large methodological differences between studies in estimating the amount of alcohol consumed, as well as in defining the occasion of drinking and the reference time period. Keep in mind that most drinkers with this pattern have a low risk total average alcohol consumption.

[Gender inequalities in authorship of the main Spanish medical journals in 2017].

Introduction: Some studies have shown a lower female participation in scientific publications. The objective of this study is to analyse the gender inequalities in the main Spanish journals of medical publications.

Material And Method: Cross-sectional study of the main Spanish medical journals classified by SCImago Journal & Country Ranking (n=24) and their publications (n=3.

Tongue peak pressure: a tool to aid in the identification of obstruction sites in patients with obstructive sleep apnea/hypopnea syndrome.

Purpose of this study was to evaluate whether tongue peak pressure measured using the Iowa Oral Performance Instrument is correlated with the topographic site of obstruction in patients with obstructive sleep apnea/hypopnea syndrome observed during drug-induced sleep endoscopy. Thirty-five consecutive adult patients (29 men, 6 women) were prospectively enrolled after having been diagnosed with severe obstructive sleep apnea/hypopnea syndrome by polysomnography. An apnea-hypopnea index > 30 was confirmed, and age, gender, and body mass index were recorded by Epworth Sleepiness Scale questionnaire, and a thorough evaluation of the upper airway by video-flexible endoscopy.

Floppy Closing Door Epiglottis Treated Successfully with an Mhealth Application Based on Myofunctional Therapy: A Case Report.

We introduce the first case reported to date of a floppy closing door epiglottis in an OSA (obstructive sleep apnea) patient treated successfully with an Mhealth smartphone application based on myofunctional therapy.

Primary squamous cell carcinoma of the thyroid. Initial assessment and follow-up using F-FDG PET/CT.

Squamous cell carcinoma of thyroid is an uncommon, very aggressive neoplasm, having a poor prognosis and poor response to chemotherapy and radiotherapy. Surgery is the initial treatment of choice, although it often presents as a widespread disease at the time of diagnosis, usually with cervical swelling that causes most of the symptoms due to local infiltration or metastasis. Local infiltration from adjacent tumour and metastatic disease needs to be excluded from other primary epidermoid carcinomas, in order to make a correct diagnosis.

[Knowledge, attitudes and practices ABOUT HIV/AIDS in peruvian women].

Objectives: To determine the level of knowledge, proper attitudes and safe sex practices regarding the Human Immunodeficiency Virus (HIV) infection in Peruvian women ages 15 to 49 years.

Materials And Methods: We used the results of the Continuous 2004-2007 Peruvian Demographic and Health survey (DHS). The dependent variable comprised the level of knowledge and attitudes regarding the disease and safe sexual practices.

Lessons from an outbreak of metallo-β-lactamase-producing Klebsiella oxytoca in an intensive care unit: the importance of time at risk and combination therapy.

Background: Outbreaks of nosocomial infection due to carbapenem-resistant Enterobacteriaceae (CRE), mostly Klebsiella spp., have become a worldwide phenomenon.

Aim: To investigate the risk factors for the acquisition of clonal multidrug-resistant Klebsiella oxytoca (MDRKO) producing the metallo-β-lactamase IMP-8 and hyperproducing chromosomal OXY-2 β-lactamase during a well-characterized outbreak, and to describe the clinical features of infections due to MDRKO.

Wastewater drainage system as an occult reservoir in a protracted clonal outbreak due to metallo-β-lactamase-producing Klebsiella oxytoca.

We describe the epidemiology of a protracted nosocomial clonal outbreak due to multidrug-resistant IMP-8 producing Klebsiella oxytoca (MDRKO) that was finally eradicated by removing an environmental reservoir. The outbreak occurred in the ICU of a Spanish hospital from March 2009 to November 2011 and evolved over four waves. Forty-two patients were affected.

Effect of iodine prophylaxis during pregnancy on neurocognitive development of children during the first two years of life.

Context: The association between thyroid function during pregnancy and the later mental and psychomotor development of the child is supported by numerous experimental, clinical, and epidemiological studies.

Objective: The aim of the study was to evaluate the psychological development of infants aged 3 to 18 months whose mothers had received 300 microg of potassium iodide during the first trimester of their pregnancy and compare with infants whose mothers had received no iodine supplements.

Design And Study Subjects: The study included 133 women who had received 300 microg of potassium iodine and 61 women who had received no iodine supplements.

[Asymmetric septal hypertrophy associated with "subclinical hypothyroidism"].

We report a case of hypothyroid cardiomyopathy manifested as reversible asymmetric septal hypertrophy in a 61-year-old white woman diagnosed 20 years previously with primary hypothyroidism.