Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.

Objectives: The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including . mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.

Case Presentation: We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations.

Blastocystis infection frequency and subtype distribution in university students.

is a parasite commonly found in the gut of humans and animals; there are 22 known subtypes (STs). STs 1-9 and 12 have been found in humans. This parasite has a faecal-oral route of transmission; its high infection prevalence in developing countries is due to poor hygiene practices, exposure to infected animals, and intake of contaminated water or food.

Ocular trauma by kinetic impact projectiles during civil unrest in Chile.

Background: The use of kinetic impact projectiles (KIPs) for crowd-control has increased worldwide. Despite having been created as non-lethal weapons, significant damage to several organs, including the eye, has been reported. In this study, we investigated cases of ocular trauma from KIPs during the civil unrest in Chile.

Extraintestinal Manifestations in Patients with Inflammatory Bowel Disease: Study Based on the ENEIDA Registry.

Background: Patients with inflammatory bowel disease (IBD) may present extraintestinal manifestations (EIMs) that affect the joints, skin, eyes, and hepatobiliary area, among others.

Aims: Our aim was to analyse the prevalence and characteristics of EIMs in patients with IBD and to identify the possible risk factors associated with the development of EIMs in the largest series published to date.

Methods: Observational, cross-sectional study including patients from the Spanish ENEIDA registry promoted by GETECCU.

Comparison between Ages & Stages Questionnaire and Bayley Scales, to predict cognitive delay in school age.

Objective: To compare the predictive value of the Spanish Ages & Stages Questionnaire third edition adapted for Chilean population (ASQ-Cl) and the Bayley Scale of Infant and Toddler Development 3rd edition (Bayley-III) for cognitive delay at school age, and to identify the domain predictors.

Methodology: Data were collected from 306 term and preterm children of medium-high socio-economic level enrolled in a prospective cohort study. Developmental outcomes at 8, 18 and 30 months were assessed via the ASQ-Cl and Bayley-III; at 6-8 years cognitive development was assessed using the Wechsler Intelligence Scale for Children (WISC-III).

Update of the Mexican College of Rheumatology Guidelines for the Pharmacological Treatment of Rheumatoid Arthritis, 2018.

Unlabelled: Therapeutic advances in rheumatoid arthritis require periodic review of treatment guidelines.

Objective: To update the Mexican College of Rheumatology guidelines on the pharmacological treatment of rheumatoid arthritis.

Method: Board certified rheumatologists from different health institutions and regions of the country participated.

[Helicobacter cinaedi bacteremia: Presentation of the first cases reported in Argentina].

Two cases of bacteremia caused by Helicobacter cinaedi are presented. The first case was diagnosed in a 76-year-old male patient, and was secondary to a vascular access device placement; the second case corresponded to a febrile infant of 37 days of life, and was associated with acute gastroenteritis. H.

[A front-of-pack labelling system for food and beverages for Mexico: a strategy of healthy decision-making.].

The Mexican Ministry of Health requested the National Institute of Public Health to constitute a group of independent, free of conflict-of-interest academic experts on front-of-pack labelling (FOP). This group was instructed to created a positioning paper to contribute to the development of a FOP system for industrialized products that offers useful information for purchase decision making. This position paper uses the best available scientific evidence, and recommendations from experts of international organizations.

Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis.

Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes.

[Study of Staphylococcus aureus infections in a general acute care hospital (2002-2013)].

A twelve-year retrospective review of Staphylococcus aureus infections in adult and pediatric patients (AP and PP respectively) assisted in the Hospital Interzonal General de Agudos Evita in Lanús was performed to determine the incidence, foci of infection, the source of infection and to analyze the profile of antimicrobial resistance. An amount of 2125 cases of infection in AP and 361 in PP were documented. The incidence in AP decreased significantly in the last three years (χ; p<0.

[Association between neontal morbidity, gestational age and developmental delays in moderate to late preterm children].

Introduction: There is evidence that children born moderate-to-late preterm (MLP) have a higher risk of hospitalisation, neonatal morbidity, and developmental delay (DD).

Objective: To determine the association between DD, gestational age, and neonatal morbidity in MLP children.

Patients And Method: A case control study design nested in a cohort of MLP children born between 2006 and 2009 at a private hospital located in the Metropolitan area of Santiago.

Gestational age and developmental risk in moderately and late preterm and early term infants.

Objectives: The objective of this study was to evaluate the association between gestational age (GA) at birth and risk of developmental delay at 8 and 18 months of corrected postnatal age.

Methods: During 2008 to 2011, infants at a corrected postnatal age of 8 or 18 months attending health centers in Santiago, Chile, were recruited. Participants completed a form on biographical and demographic characteristics and the Chilean validated version of the Ages and Stages Questionnaires, Third Edition (ASQ).

MRSA Pediatric clone expressing ermC plus lnuA genes causing nosocomial transmission and healthcare workers colonization in a neonatal intensive care unit.

Methicillin-resistant Staphylococcus aureus (MRSA) is a major cause of both nosocomial and community-acquired infections. We describe an outbreak caused by the MRSA Pediatric clone expressing an unusual lincosamide resistant phenotype. Between January and May 2006, an MRSA outbreak was detected at the Neonatal Unit of Hospital Interzonal General de Agudos "Evita", Buenos Aires Province, Argentina that affected ten patients.

[From clinical judgment to linear regression model.].

When we think about mathematical models, such as linear regression model, we think that these terms are only used by those engaged in research, a notion that is far from the truth. Legendre described the first mathematical model in 1805, and Galton introduced the formal term in 1886. Linear regression is one of the most commonly used regression models in clinical practice.

[Clinical research XVII. χ(2) test, from the expected to the observed].

When you want to show if there is a statistical association or differences between categorical variables, it is recommended to use the χ(2) test. This nonparametric test is one of the most used in clinical research; it contrasts nominal or ordinal qualitative variables that are observed in clinical practice. This test calculates the p value that determines whether differences between groups are real or due to chance.

[Dissemination of blaIMP-8 among Enterobacteriaceae isolates from a Buenos Aires Hospital].

From August 2008 to December 2011, six metallo-β-lactamase-producing isolates, four Enterobacter cloacae, one Klebsiella oxytoca and one Citrobacter freundii, were detected at Hospital Interzonal General de Agudos "Evita" in Lanús. All six isolates showed multiresistant profiles and the presence of the blaIMP-8 gene. Five isolates also expressed PER-2 extended spectrum β-lactamase.

Ultrasound findings in Terson's syndrome: two case reports.

Terson's syndrome describes the concurrence of intracranial hemorrhage, vitreous hemorrhage and juxtapapillary subinternal limiting membrane and retinal hemorrhage. In most cases, the retinal and vitreous hemorrhage will clear spontaneously. Vitrectomy was indicated by persistent hemorrhage in two cases.

On the midpoint potential of the FAD chromophore in a BLUF-domain containing photoreceptor protein.

The redox-midpoint potential of the FAD chromophore in the BLUF domain of anti-transcriptional regulator AppA from Rhodobacter sphaeroides equals ∼-260mV relative to the calomel electrode. Altering the structure of its chromophore-binding pocket through site-directed mutagenesis brings this midpoint potential closer to that of free flavin in aqueous solution. The redox-midpoint potential of this BLUF domain is intermediate between those of LOV domains and Cryptochromes, which may rationalize the primary photochemistry observed in these three flavin-containing photoreceptor families.

Mercury distribution and exchanges between the Amazon River and connected floodplain lakes.

This work presents the distribution and the partition of mercury (Hg) in the Curuai floodplain lakes along the Amazon River. The maximum Total Filtered Hg (T-FHg) concentrations in the floodplain lakes (28 to 52 pmol L(-1)) coincide with the maximum T-FHg concentrations of the Amazon River and are measured during the flooding period. The lowest T-FHg values (3 to 5 pmol L(-1)) are observed during the flood peak of the mainstream, during the rainy season, when waters are diluted by the local rainfall.

On the signaling mechanism and the absence of photoreversibility in the AppA BLUF domain.

The flavoprotein AppA from Rhodobacter sphaeroides contains an N-terminal, FAD-binding BLUF photoreceptor domain. Upon illumination, the AppA BLUF domain forms a signaling state that is characterized by red-shifted absorbance by 10 nm, a state known as AppA(RED). We have applied ultrafast spectroscopy on the photoaccumulated AppA(RED) state to investigate the photoreversible properties of the AppA BLUF domain.

[Prevalence and epidemiology of Loxosceles laeta bite. Analysis of consultations to a poison control center].

Background: Loxoscelism is caused by the bite of spider Loxosceles laeta. It can cause a cutaneous or systemic syndrome.

Aim: To determine the epidemiológica! and clinical features of patients bitten by the Chilean recluse spider (Loxosceles laeta).

Parvovirus B19 infection in Chile: markers of infection and immunity in patients with clinical symptoms.

Parvovirus B19 infection is associated with a wide variety of symptoms and signs, and given that some clinical features, such as anemia, arthropathy and rash may be attributable to other causes, laboratory diagnosis of B19 markers is necessary. The principal aims were to study the behavior of B19 infection-associated diseases in the Chilean population and to compare B19 markers for recent or active infection and for immunity status in patients with clinical symptoms suspicious of B19 infection and control individuals. Sera from a total of 267 patients with diverse clinical manifestations associated with B19 and from 69 healthy controls were tested for B19 DNA using PCR and for specific IgM and immunoglobulin G (IgG) by enzyme-linked immunosorbent assay (ELISA).

Tuberculous meningitis in HIV-infected patients: drug susceptibility and clinical outcome.

The objective of this study was to identify prognostic factors of death in patients with tuberculous meningitis (TM) and show the impact of infection by multidrug-resistant strains on the outcome of this disease. We retrospectively analysed clinical charts of HIV-infected patients with culture-confirmed TM attending our institution during 1996-2004. The following variables were associated with death during hospitalization: neurological signs at admission, a CD4 T-cell count less than 50 cells/microl and infection by multidrug-resistant strains.