Most of the geographically isolated island nations in the Caribbean have small populations and low gross national product. As such, many lack important medical and community services. Difficulties are compounded when attempting to care for children with special needs and genetic disorders such as Down syndrome. International charitable organizations can help to provide much needed specialty medical care. Community associations can encourage local relationship building and education. Collaborative efforts with well-funded laboratories can help to deliver molecular characterization for individuals who have genetic disorders. With community and volunteer effort, a higher standard of care is obtainable in underserved communities.The study of cerebral metabolites relies heavily on detection methods and sample preparation. Animal experiments in vivo require anesthetic agents that can alter brain metabolism, whereas ex vivo experiments demand appropriate fixation methods to preserve the tissue from rapid postmortem degradation. In this study, the metabolic profiles of mouse hippocampi using proton magnetic resonance spectroscopy (1 H-MRS) were compared in vivo and in situ with or without focused beam microwave irradiation (FBMI) fixation. Ten major brain metabolites, including lactate (Lac), N-acetylaspartate (NAA), total choline (tCho), myo-inositol (mIns), glutamine (Gln), glutamate (Glu), aminobutyric acid (GABA), glutathione (GSH), total creatine (tCr) and taurine (Tau), were analyzed using LCModel. After FBMI fixation, the concentrations of Lac, tCho and mIns were comparable with those obtained in vivo under isoflurane, whereas other metabolites were significantly lower. Except for a decrease in NAA and an increase in Tau, all the other metabolites remained stable over 41 hours in FBMI-fixed brains. Without FBMI, the concentrations of mIns (before 2 hours), tCho and GABA were close to those measured in vivo. However, higher Lac (P less then .01) and lower NAA, Gln, Glu, GSH, tCr and Tau were observed (P less then .01). NSC16168 NAA, Gln, Glu, GSH, tCr and Tau exhibited good temporal stability for at least 20 hours in the unfixed brain, whereas a linear increase of tCho, mIns and GABA was observed. Possible mechanisms of postmortem degradation are discussed. Our results indicate that a proper fixation method is required for in situ detection depending on the targeted metabolites of specific interests in the brain.

Our aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature.

We performed biochemical and molecular screenings in a Mexican girl with extremely low lipid levels and in her family. Further, we integrated and evaluated the characteristics of the cases with abetalipoproteinemia described in the literature.

Our patient is a six-year-old girl who presented vomiting, chronic diarrhea, failure to thrive, malabsorption, acanthocytosis, anemia, transaminases elevation, and extremely low lipid levels. MTTP gene sequencing revealed homozygosity for a novel mutation p.Gly417Valfs*12 (G deletion c.1250). With the analysis of the reported cases, 60 clinical features (14 classical and 46 non-classical) were observed, being the most common acanthocytosis (57.5%), malabsorption (43.7%), and diarrhea (42.5%); 48.8% of the patients presented only classic clinical features, while the remaining 51.2% developed secondary effects due to a fat-soluble vitamin deficiency. An odds ratio analysis disclosed that patients diagnosed after 10years of age have an increased risk for presenting clinical complications (OR=18.0; 95% CI 6.0-54.1, p<0.0001). A great diversity of mutations in MTTP has been observed (n=76, being the most common p.G865X and p.N139_E140) and some of them with possible residual activity.

The first Mexican patient with abetalipoproteinemia presents a novel MTTP mutation p.Gly417Valfs*12. Three factors that could modulate the phenotype in abetalipoproteinemia were identified age at diagnosis, treatment, and the causal mutation.

The first Mexican patient with abetalipoproteinemia presents a novel MTTP mutation p.Gly417Valfs*12. Three factors that could modulate the phenotype in abetalipoproteinemia were identified age at diagnosis, treatment, and the causal mutation.

To identify the prevalence and factors associated with depression and anxiety in patients with psoriasis.

Psoriasis is a chronic, non-contagious, autoimmune inflammatory skin disease associated with psychological comorbidities.

A cross-sectional study conducted between March 2017-December 2018 in a dermatology infirmary and outpatient clinic of a public hospital in the inner State of São Paulo (Brazil).

We used questionnaires with sociodemographic data and clinical history, the HADS (Hospital Anxiety and Depression Scale), DLQI-BRA (Dermatology Life Quality Index) and PASI (Psoriasis Area Severity Index). The correlations between variables were explored using multivariate techniques. STROBE checklist was applied as the reporting guideline for this study (File S1).

A total of 281 participants were included, of which the majority were female 146 (52%), with a mean age of 52.1years (SD 13.8), elementary school 154 (55%), married/cohabiting 209 (74%) and with low income 201 (72%). The median (p25-p75) tlised referral.

Due to the scarcity of studies in the field of nursing with psoriasis patients, we believe these findings contribute to the reorganisation of the care provided, allowing nurses to timely identify mood disorders such as anxiety and depression and adopt the necessary measures to a service and/or specialised referral.

To verify the ability of infrared thermography in objectively identifying pressure injury and its application value in the early warning of pressure injury.

There is subjectivity in assessing the risk of pressure injury as well as diagnosis in clinical settings, which makes early detection and prevention difficult.

Prospective, cohort study.

Four hundred and fifteen patients admitted to the adult intensive care units were enrolled by a convenience sampling method, and they received a follow-up monitoring for 10days. The risk of pressure injury was assessed via Braden scale, and thermal images of sacral area were obtained by infrared thermal imager once a day. The predictive effects of infrared thermography and Braden scale on pressure injury were compared by the receiver operating characteristic curve from which the optimal cut-off value of skin temperature for predicting pressure injury was determined. The effect of skin temperature on pressure injury was described and compared, using Kaplan-Meier curve and Cox proportional hazard regression model, respectively.