Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The ...aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D 25(OH) vitamin D levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls (p=0.009). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression (p=0.88). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls (p=0.05). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 (p=0.65). In subanalysis, patients with GA+AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls (p=0.03). No increased risk was observed in GT+TT genotypes of CYP27B1 rs10877012 (p=0.63). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA+AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.
Background. Fracture risk assessment tool (FRAX) index was developed for estimating of the 10-year risk of major or hip osteoporotic fracture. To date, there is insufficient information regarding the ...correlation between FRAX and serum bone turnover markers (BTMs), such as soluble ligand of receptor activator of nuclear factor-κB (sRANKL), osteoprotegerin (OPG), and other molecules related with secondary osteoporosis in rheumatoid arthritis (RA). Therefore, this study is aimed at assessing the correlation between the FRAX and serum levels of sRANKL, OPG, sRANKL/OPG ratio, Dickkopf-1 (DKK-1), and sclerostin (SOST) in RA. Methods. Cross-sectional study included 156 postmenopausal women with RA. Bone mineral density (BMD) was measured at lumbar spine (L1-L4) and total hip using dual-energy X-ray absorptiometry (DXA). RA patients were divided into (A) RA + osteoporosis and (B) RA without osteoporosis. FRAX scores were calculated including the total hip BMD. Serum sRANKL, OPG, DKK-1, and SOST levels were measured by ELISA. Pearson tests were used for assessing the correlation between serum levels of these molecules and FRAX scores in RA. Results. The RA + osteoporosis group had elevated sRANKL levels (p=0.005), higher sRANKL/OPG ratio (p=0.017), decreased DKK-1 (p=0.028), and lower SOST levels (p<0.001). Low total hip BMD correlated with high sRANKL (p=0.001) and sRANKL/OPG ratio (p=0.005). Total hip and lumbar spine BMD correlated with DKK-1 (p=0.009 and p=0.05, respectively) and SOST levels (p<0.001 and p<0.001, respectively). Higher sRANKL levels and sRANKL/OPG ratio correlated with estimated 10-year risk of a major osteoporotic fractures (p=0.003 and p=0.003, respectively) and hip fracture (p=0.002 and p=0.006, respectively). High serum SOST levels were associated with a low estimated 10-year risk of a major osteoporotic fracture (p=0.003) and hip fracture (p=0.009). Conclusion. High sRANKL levels and sRANKL/OPG ratio can be useful to detect a subgroup of RA patients who has an increased 10-year risk of major and hip osteoporotic fractures.
Osteoporosis (OP) is highly prevalent in rheumatoid arthritis (RA) and is influenced by genetic factors. Single-nucleotide polymorphism (SNP) rs2073618 in the TNFRSF11B osteoprotegerin (OPG) gene has ...been related to postmenopausal OP although, to date, no information has been described concerning whether this polymorphism is implied in abnormalities of bone mineral density (BMD) in RA. We evaluated, in a case-control study performed in Mexican-Mestizo women with RA, whether SNP rs2073618 in the TNFRSF11B gene is associated with a decrease in BMD. RA patients were classified as follows: (1) low BMD and (2) normal BMD. All patients were genotyped for the rs2073618 polymorphism by PCR-RFLP. The frequency of low BMD was 74.4%. Higher age was observed in RA with low BMD versus normal BMD (62 and 54 years, resp.; p<0.001). Worse functioning and lower BMI were observed in RA with low BMD (p=0.003 and p=0.002, resp.). We found similar genotype frequencies in RA with low BMD versus RA with normal BMD (GG genotype 71% versus 64.4%, GC 26% versus 33%, and CC 3% versus 2.2%, resp.; p=0.6). We concluded that in Mexican-Mestizo female patients with RA, the rs2073618 polymorphism of the TNRFS11B gene is not associated with low BMD.
Adipokines, especially chemerin, can interact with cytokines and other molecules in inflammation. To date, there is insufficient information regarding a possible correlation between functional ...disability and chemerin and other pro-inflammatory molecules in rheumatoid arthritis (RA). To identify the association of functional disability with serum chemerin and other pro-inflammatory molecules, including other adipokines, cytokines and E-selectin, in patients with RA. Cross-sectional study. Assessment: disease activity (DAS28-ESR) and functional disability (HAQ-DI). We compared the adipokines (chemerin, leptin, adiponectin, resistin, and visfatin), cytokines (TNF-α, IL-6, IL-1β, and IL-18) and E-selectin levels between RA with functional disability and RA non-disabled patients. Of 82 patients with RA, 43 (52%) had functional disability. The RA with functional disability group had higher chemerin (140 vs. 112 ng/mL, p = 0.007) than the non-disabled RA group. Chemerin correlated with the HAQ-DI (rho = 0.27, p = 0.02) and DAS28-ESR (rho = 0.21, p = 0.05). Severe activity correlated with IL-6 (rho = 0.33, p = 0.003) and E-selectin (rho = 0.23, p = 0.03) but not with disability. No other pro-inflammatory molecules correlated with HAQ-DI. High chemerin levels were associated with functional disability in RA, whereas no other molecules correlated with loss of function. These results encourage further studies assessing new roles of chemerin as a marker of impairment in RA.
•10 and 1.5% chitosan treatments were tested to improve vase life in H. bihai (L.) L.•The longest vase life was 19.8days with 1.0% chitosan treatment.•A basipetal damage gradient was observed in the ...flowers stems.
Tropical ornamentals such as heliconias play a key role in the growth of the floriculture market due to their bright coloured and attractively shaped inflorescences. Heliconia bihai is one of the most popular of the Heliconias in the global market. New postharvest handling techniques to increase distribution of the cut flowers without compromising flower stem quality as measured by vase life are needed. The effects of chitosan coating on vase life of flower stems of Heliconia bihai (L.) L. Halloween stored under laboratory conditions has been studied. Flowering stem fresh weight loss, bract colour (L*, C* and h°), concentration of anthocyanin, total flavonoids and total sugars, percentage of absolute integrity of cell membranes (PAI) of stem, peduncle and bracts, and duration of vase life were evaluated on day 1, 5, 10 and the final day of vase life. Concentrations of 1.0 and 1.5% of chitosan, extended the vase life by 10.3 and 7 d more than the control, respectively. An internal cell damage gradient from the base to the apex based on ion release was observed and the visual quality of inflorescences decreased over time in all treatments, but at different rates.
The pineapple (Ananas comosus L. Merr) is an economically important bromeliad plant due to the organoleptic characteristics of its fruit, being the MD2 variety one of the most cultivated. Pineapple ...culture is limited by its inefficient sucker production. Micropropagation represents a way of producing pineapple plantlets. The aim of this study was to obtain a micropropagation protocol for A. comosus MD2 variety using the axillary bud proliferation technique. Axillary buds from suckers were put into MS media where 17 treatments were tested: benzylaminopurine (BA) in combination with indolebutyric acid (IBA) (0, 0.5, 1 mg/L) or indoleacetic acid (IAA) (0, 0.5, 1 mg/L); as well as BA (2 mg/L) with naphthaleneacetic acid (NAA) (5 mg/L); and kinetin (KIN) (2 mg/L). The presence or absence of silver nanoparticles (34 mg/L) was tested as well. The percentage of sprouting, number of shoots, and length were measured. Percentage of sprouting was higher (73.3%) when kinetin and silver were present. Highest shoot number (2.5±0.49) was observed on media containing BA 3 mg/L and AIA 0.5 mg/L. Also, organogenesis was observed on media with BA and ANA. Finally, acclimatization had a 100% success rate.
•Combinations of temperature, relative humidity and light were tested for storage.•The best storage conditions were 12–16°C with relative humidity between 60 and 90%.•The longest vase life was using ...15°C and 63% relative humidity (16.6 days).•H. psittacorumL. f. cv. Trópica did not show a significant ethylene release.
Heliconia psittacorum L. f. is a tropical flower species with high economic potential due to its diversity of shapes, colours and its long vase life. However, storage conditions (temperature and relative humidity; RH) for flower stems during transport is a particular issue to each cultivar determining duration of vase life. Flowering stems were obtained from a commercial plantation in Campo Grande, Iztaczoquitlán, Veracruz, Mexico. The variables evaluated over a 10 day storage period were: fresh weight, colour using the CIE model (L*, a*, b*), peroxidase activity (POX), respiratory intensity and ethylene. The temperature was in the range of 12–26°C, RH between 37 and 90% and light between 0 and 150μmolm−2s−1. A repeated measures experimental design for non-destructive variables was used and a completely randomized design for destructive variables. The conditions which best preserved the quality characteristics during the stem storage (α=0.05) were: 15°C, 63% RH and 0μmolm−2s−1; 16°C, 60% RH and 150μmolm−2s−1 and 12°C, 90% RH and 26μmolm−2s−1. The average vase life (VL) was 6.6 days with 15°C, 63% RH and 0μmolm−2s−1 and total postharvest longevity (TPL) was 16.6 days. In contrast the control treatment had a VL of 2.5 days and a TPL of 12.5 days (24±2°C, 60±5% RH and 10μmolm−2s−1). The presence of leaves increased the respiration, but there was no significant release of ethylene, hence, storage treatments did not affect the ethylene production.
Abstract
Objectives Individual mutations in the SCN5A-encoding cardiac sodium channel α-subunit cause single cardiac arrhythmia disorders, but a few cause multiple distinct disorders. Here we report ...a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and complex biophysical phenotype and a corresponding variable and complex clinical phenotype with variable penetrance.
Methods and results A 12-year-old male with congenital sick sinus syndrome (SSS), cardiac conduction disorder (CCD), and recurrent monomorphic ventricular tachycardia (VT) had mutational analysis that identified a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of SCN5A. The mutation was also present in six asymptomatic family members only two of which showed mild ECG phenotypes. The deletion caused a frame-shift mutation (L1821fs/10) with truncation of the C-terminus after 10 missense amino acid substitutions. When expressed in HEK-293 cells for patch-clamp study, the current density of L1821fs/10 was reduced by 90% compared with WT. In addition, gating kinetic analysis showed a 5-mV positive shift in activation, a 12-mV negative shift of inactivation and enhanced intermediate inactivation, all of which would tend to reduce peak and early sodium current. Late sodium current, however, was increased in the mutated channels.
Conclusions The L1821fs/10 mutation causes the most severe disruption of SCN5A structure for a naturally occurring mutation that still produces current. It has a marked loss-of-function and unique phenotype of SSS, CCD and VT with incomplete penetrance.
The Pan-American and Iberian Federation of Critical Medicine and Intensive Therapy, A.C. (FEPIMCTI), has prepared its Strategic Plan for the next 5 years. In this Plan, it defines its course towards ...the future, establishes its long-term objectives and works to achieve success. Its strategic objectives are framed in consolidating the legal, fiscal and administrative structure, the updating of its statutes, the implementation of a process management system encompassed in a quality culture, the implementation of committees of experts, achieving academic excellence by developing training programs and giving visibility to the Federation. Their main values refer to equity, professionalism, respect and social solidarity. The implementation of the Strategic Plan in a collaborative manner must serve as a driving force for change to position FEPIMCTI as a relevant Scientific Society in the Critical Medicine of its member countries.
PDF
