Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.

BACKGROUND: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR and CYP24A1 have been previously associated with AD. OBJECTIVE: We sought to characterize the associations between the VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD. METHODS: A total of 246 participants (143 patients with AD and 103 healthy controls) were enrolled in this study. Genotyping for polymorphisms in VDR (rs2239185, rs1544410, rs7975232, rs2238136, rs3782905, rs2239179, rs1540339, rs2107301, rs2239182, and rs731236) and CYP24A1 (rs2248359 and rs2296241) was performed by allele-specific polymerase chain reaction using integrated fluidic circuit technology. Serum levels of calcium, phosphorus, and vitamin D were measured, and the biochemical lipid profile was determined. RESULTS: Among VDR SNPs, rs2239182 exerted a protective effect against the development of AD, whereas rs2238136 was identified as a risk factor for AD. The GCC haplotype (rs2239185-G, rs1540339-C, and rs2238136-C) appeared to protect against the development of AD. rs2239182-CC was associated with higher 25(OH)D concentrations, whereas rs2238136-TT, rs2239185-GA, and rs2248359-TT were present in a large proportion of patients with serum vitamin D deficiency. rs2239185-AA, rs2239182-CC, and rs1540339-CC were associated with higher serum total cholesterol; rs2239182-TT was associated with lower low-density lipoprotein cholesterol; and rs2239182-TC with lower high-density lipoprotein cholesterol. Both CYP24A1 SNPs (rs2296241-AA and rs2248359-TT) were associated with higher high-density lipoprotein cholesterol levels. CONCLUSIONS: The VDR SNP rs2238136 is a risk factor for AD and other SNPs in VDR and CYP24A1, which may lead to alterations in biochemical parameters that influence the risk of AD. Our findings highlight the complex genetic basis to AD and indicate that interrelationships between different genetic factors can lead to alterations in vitamin D metabolism or lipid profiles, which in turn may influence the development of AD.

Malnutrition Screening and Assessment.

Malnutrition is a serious problem with a negative impact on the quality of life and the evolution of patients, contributing to an increase in morbidity, length of hospital stay, mortality, and health spending. Early identification is fundamental to implement the necessary therapeutic actions, involving adequate nutritional support to prevent or reverse malnutrition. This review presents two complementary methods of fighting malnutrition: nutritional screening and nutritional assessment. Nutritional risk screening is conducted using simple, quick-to-perform tools, and is the first line of action in detecting at-risk patients. It should be implemented systematically and periodically on admission to hospital or residential care, as well as on an outpatient basis for patients with chronic conditions. Once patients with a nutritional risk are detected, they should undergo a more detailed nutritional assessment to identify and quantify the type and degree of malnutrition. This should include health history and clinical examination, dietary history, anthropometric measurements, evaluation of the degree of aggression determined by the disease, functional assessment, and, whenever possible, some method of measuring body composition.

A novel pathogenic variant in LCAT causing FLD. A case report.

BACKGROUND: Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare genetic disorders inherited in an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries also affect patients suffering from FLD. The diagnosis of FLD is based on the presence of characteristic signs and symptoms and confirmed by genetic testing. CASE PRESENTATION: We present a case of a 63-year-old man showing an altered lipid profile with low HDL cholesterol, chronic kidney disease (CKD) and corneal disorders. He was referred to genetic counseling in order to discard genetic LCAT deficiency due to decreased visual acuity caused by corneal opacity. A massive DNA sequencing was conducted using a multigene panel associated with lipid metabolism disturbances. RESULTS AND GENETIC FINDINGS: Two likely pathogenic variants in LCAT were identified and later confirmed by Sanger sequencing. Both (c.491 G > A and c.496 G > A) were missense variants that originated an amino acid substitution (164Arginine for Histidine and 166Alanine for Threonine, respectively) modifying the protein sequence and its 3D structure. CONCLUSIONS: FLD and FED sharing common biochemical features, and the existence of other diseases with similar clinical profiles underline the need for a timely differential diagnosis aiming to address patients to preventive programs and future available therapies. This case, added to the reduced number of publications previously reported regarding FLD and FED, contributes to better understanding the genetic characteristics, clinical features, and diagnosis of these syndromes.

Effects of the COVID-19 pandemic on the activity of clinical laboratories in Spain, evolution in the 2019-2021 period.

Objectives: To assess the impact of the COVID-19 pandemic on the activity of clinical laboratories in Spain. Methods: A descriptive, observational, retrospective, multicenter study. Results: Between March and December 2020, there was a statistically significant decrease in the number of test requests (-17.7%, p=<0.001) and total tests performed (-18.3%, p<0.001) with respect to the same period in 2019. A decrease was observed in the number of requests from primary care (-37.4%) (p<0.001) and in the number of foecal occult blood (-45.8%); qualitative urine (-30.1%); PSA (-28.5%); TSH (-27.8%); total cholesterol (-27.2%) and HbA1c (-24.7%) tests performed, p<0.001. A significant increase was found in the number of requests from ICUs (76.6%, p<0.001) and number of IL-6 (+22,350.9), D-dimer (+617.2%), troponin (+46.8%) and arterial blood gas (+3.9%) tests carried out, p<0.001. During the first months of 2021, there were significant changes in the number of requests for qualitative urine (-8.7%, p<0.001), PSA (-6.3%, p=0.009), IL-6 (+66,269.2, p<0.001), D-dimer (+603.6%, p<0.001), troponin (+28.7%, p<0.001), arterial blood gas (+26,2%, p=0.014) and ferritin (+16.0%, p=0.002) tests performed. Conclusions: There were changes in the origin and number of test requested to clinical laboratories in Spain. The number of requests for the evaluation and monitoring of COVID-19 patients increased, whereas requests for the control of non-COVID patients and for population screening decreased. Long-term analysis reveals that the volume of tests performed for the control of chronic diseases returned to normal over time, whereas the increase observed in the volume of tests performed for the management of COVID-19 patients is maintained.

Capillary glucose concentration during oral glucose tolerance test for the diagnosis of gestational diabetes.

OBJECTIVE: To assess concordance between two point-of-care testing (POCT) devices and the standard laboratory method in screening for gestational diabetes mellitus (GDM) in Huesca. METHODS: Pregnant women who met criteria for an oral glucose tolerance test (OGTT) and attended the laboratory between October 2017 and November 2018 were recruited in this prospective observational study. Glucose was measured in venous (laboratory) and capillary blood (Accu-Chek or Contour Next glucometers). GDM was diagnosed attending to NDDG criteria for venous samples or capillary-specific cut-off. Linear regression, Passing-Bablok, Bland-Altman, and the kappa coefficient were used to study concordance between POCT and laboratory method. RESULTS: Data from 109 women were analyzed (57 for Accu-Chek, 52 for Contour Next). Statistical analyses showed good agreement between both POCT and laboratory method. There were no statistical differences in fasting glucose measurements between capillary and venous samples and both POCT devices meet the ISO 15197 standard. Accu-Chek showed good agreement (k=0.629) regarding the laboratory method in classifying GDM, with an acceptable inter-evaluator bias of 3.5% (P<0.001). CONCLUSION: POCT can be used to obtain fasting values and reduce overall waiting times for patients. Additionally, Accu-Chek can be used to diagnose GDM in remote areas applying specific cut-off values.

Effect of endurance and resistance training on regional fat mass and lipid profile.

The purpose of this study was to investigate the effect of 10-week of endurance training or resistance training on regional and abdominal fat, and in the lipid profile, examining the associations among the changes in body composition, weight, waist circumference and lipid profile. Body composition, waist circumference and lipid profile were analyzed in 26 volunteers healthy young men (age 22.5 ± 1.9 yr), randomly assigned to: endurance group (EG), resistance group (RG) or control group (CG). The EG significantly decreased after training the body weight, body mass index, total body fat and percentage of fat, fat and percentage of fat at the trunk and at the abdominal region and High-Density Lipoprotein. The RG significantly increased total lean mass and decreased total cholesterol, High-Density and Low- Density Lipoprotein. Close relationship were found among changes in weight, total lean mass, regional fat mass, waist circumference and changes in lipid profile (all p < 0.05). We concluded that 10-week of endurance training decreased abdominal and body fat in young men, while 10-week of resistance training increased total lean mass. These types of training had also effects on lipid profile that seem to be to some extent associated to changes in body composition; however it requires additional investigation.

El objetivo de este estudio fue investigar el efecto de 10 semanas de entrenamiento de resistencia ó fuerza sobre la cantidad de grasa en la región abdominal y sobre el perfil lipídico, analizando las asociaciones entre los cambios en composición corporal, peso, circunferencia de la cintura y perfil lipídico. La composición corporal, la circunferencia de la cintura y el perfil lipídico fueron analizados en 26 jóvenes (edad 22.5 ± 1,9 AÑOs), que se asignaron aleatoriamente a un grupo de resistencia (EG), un grupo de fuerza (RG) o al grupo control (CG). El EG disminuye significativamente, después del entrenamiento, el peso corporal, el índice de masa corporal, la cantidad total de grasa y el porcentaje de grasa, la grasa y porcentaje de grasa en el tronco y en la región abdominal y la lipoproteina de alta densidad. El RG mejoró significativamente la masa muscular total y disminuyeron el colesterol total, HDL y LDL. Se observó una relación estrecha entre los cambios en el peso, la masa magra total, la masa grasa regional, la cintura de la cadera y los cambio lipídicos (p < 0,05). Concluimos que 10 semanas de entrenamiento de resistencia disminuyen la grasa abdominal y corporal en sujetos jóvenes, mientras que 10 semanas de entrenamiento de fuerza aumentan la masa muscular total. Estos entrenamientos tienen un efecto sobre el perfil lipídico que parecen estar asociado a cambios en la composición corporal, no obstante, son necesarios más estudios.