Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.

Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.

Employment Status and HIV Viral Load in Chilean Adult Population: A Propensity Score Analysis.

We set out to investigate the potential impact of unemployment on HIV viral load in individuals living with HIV at the biggest HIV-related healthcare centre in Chile. We analysed a cross-sectional dataset of 803 adults living with HIV on antiretroviral therapy. The main exposure was employment status.

[The decline of analog radiological collection].

Throughout the 20th century, radiographs and fluoroscopies became essential elements to complete clinical evaluation. Images of the most relevant cases, together with their clinical records, were stored in the radiological collections of the hospitals. Over time, the need for physical space due to the emergence of new equipment, together with the digitization of radiographs and their digital storage, put an end to the collections, many of which were lost in a corner of modern X-ray services.

[Screening in Cystic Fibrosis in the Chilean population. Pilot project for screening in newborns].

Unlabelled: Neonatal screening has been implemented internationally with different protocols and has become the routine method in the preclinical stage. Late diagnosis is associated with more severe symptoms with decreased survival and higher treatment costs.

Objectives: To estimate the incidence of cystic fibrosis; to evaluate the performance of the screening algorithms Immunoreactive Trypsinogen and Pancreatitis-Associated Protein (IRT/PAP) and the IRTxPAP product; to analyze the cut-off value for IRT, PAP, and IRTxPAP, and to establish a methodology for its ongoing evaluation; finally, to evaluate the quality of IRT and PAP measurements.

[Review of Multiple Endocrine Neoplasia Type 1 Based on a Clinical Case].

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.

FISPGHAN statement on the global public health impact of metabolic dysfunction-associated steatotic liver disease.

As rates of obesity rise worldwide, incidence of metabolic dysfunction-associated steatotic liver disease (MASLD), formerly referred to as nonalcoholic fatty liver disease, is increasing, worsening the burden of healthcare systems. The council of the Federation of International Societies for Pediatric Gastroenterology, Hepatology, and Nutrition (FISPGHAN) identified the topic of MASLD epidemiology, treatment, and prevention as a global priority issue to be addressed by an expert team, with the goal to describe feasible and evidence-based actions that may contribute to reducing MASLD risk. The FISPGHAN member societies nominated experts in the field.

Evidence gaps in orthognathic surgery: an international Delphi study.

The aim of this study was to assess the evidence gaps identified in a recent mapping review of orthognathic surgery by evaluating them through consultation with maxillofacial surgeons. Using the Delphi technique, a panel of surgeons who regularly perform orthognathic surgery was engaged. Potential participants were identified through articles included in the mapping review, peer nominations, and social media platforms .

Global trends in CD4 count measurement and distribution at first antiretroviral treatment initiation.

Background: While people with HIV (PWH) start antiretroviral treatment (ART) regardless of CD4 count, CD4 measurement remains crucial for detecting advanced HIV disease and evaluating ART programmes. We explored CD4 measurement (proportion of PWH with a CD4 result available) and prevalence of CD4 <200 cells/µL at ART initiation within the International epidemiology Databases to Evaluate AIDS (IeDEA) global collaboration.

Methods: We included PWH at participating ART programmes who first initiated ART at age 15-80 years during 2005-2019.

Talocalcaneonavicular Realignment: The Foundation for Comprehensive Reconstruction of Severe, Resistant Neurologic Cavovarus, and Equinocavovarus Foot Deformities in Children and Adolescents.

Introduction: The progression of neurologic cavovarus (NCV) and equinocavovarus (NECV) foot deformities during growth can eventually lead to non-reducible severe talonavicular (TN) and subtalar (ST) joint rotational malalignments. This study aimed to describe a technique to correct severe, resistant inversion deformity of the ST joint complex as the foundational procedure in comprehensive reconstruction of multi-segmental NCV and NECV deformities in pediatric patients and to analyze mid-term radiologic, functional, and satisfaction outcomes.

Methods: This prospective study included children with severe NCV and NECV foot deformities who underwent TCNR between 2019 and 2022, with a minimum follow-up of 2 years.

[Recommendations about the Programming of Medical Activities in Medical Oncology of the Chilean Society of Medical Oncology].

Unlabelled: The incidence of cancer is increasing, which translates into a higher demand for medical oncology services every day. Work overload and, consequently, the development of burnout is present in up to 50% of medical oncology staff.

Aim: The objective of this publication is to expose the current situation and to establish recommendations for the scheduling of the medical activities in medical oncology considering the different types of care delivery and the necessary time for these to improve patient care while protecting the physician wellbeing.

[Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management].

Unlabelled: Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition affecting the autonomic nervous system and respiratory center due to mutations in the PHOX2B gene, and it is associated with alveolar hypoventilation during sleep and sudden death. It requires early invasive mechanical ventilation (IMV).

Objective: To report a neonatal case successfully treated with non-invasive ventilatory support (NVS), avoiding tracheostomy.

Differential Effect of 2 Hormonal Contraceptives on the Relative Telomere Length of Youth With Type 1 Diabetes.

Context: Adolescents and young women (AYA) with type 1 diabetes (T1D) may require hormonal contraception for an extended period. However, it is unclear what effect hormonal contraception has on telomere length, a marker of the risk for complications.

Objective: To investigate the relative telomere length (RTL) in AYA with T1D (AYA-T1D) and healthy young women (AYA-C) after 18 months of combined oral contraception use (COC) with ethinyl estradiol/desogestrel, or a subdermal etonogestrel implant (IM).

Artificial Intelligence in Urology: Application of a Machine Learning Model to Predict the Risk of Urolithiasis in a General Population.

This research presents our application of artificial intelligence (AI) in predicting urolithiasis risk. Previous applications, including AI for stone disease, have focused on stone composition and aiding diagnostic imaging. AI applications centered around patient-specific characteristics, lifestyle considerations, and diet have been limited.

Echocardiogram by apical-subcostal protocol in prone position during invasive mechanical ventilation in cardiovascular intensive care unit.

Aims: To evaluate the feasibility of a transthoracic echocardiogram using an apical-subcostal protocol in invasive mechanical ventilation (IMV) and prone position.

Methods: Prospective study of adults who required a prone position during IMV. A pillow was placed only under the left hemithorax in the prone position to elevate and ease the apical and subcostal windows.

Barriers to and facilitators for creating, disseminating, implementing, monitoring and evaluating oral health policies in the WHO African region: A scoping review.

Objective: To advance oral health policies (OHPs) in the World Health Organization (WHO) African region, barriers to and facilitators for creating, disseminating, implementing, monitoring and evaluating OHPs in the region were examined.

Methods: Global Health, Embase, PubMed, Public Affairs Information Service Index, ABI/Inform, Web of Science, Academic Search Complete, Scopus, Dissertations Global, Google Scholar, WHO's Institutional Repository for Information Sharing (IRIS), the WHO Noncommunicable Diseases Document Repository and the Regional African Index Medicus and African Journals Online were searched. Technical officers at the WHO Regional Office for Africa were contacted.