Chloride Channel Mutations Leading to Congenital Myotonia.

Congenital myotonia is a non-dystrophic musculoskeletal disease that causes abnormal muscle relaxation. The prevalence of congenital disorders is notably high in Iran, emphasizing the importance of genetic assessment in suspicious cases. In this study, we aim to report cases with the chloride channel gene, CLCN1, mutations leading to significant morbidity. This case report study investigated four patients from four families with clinically defined congenital myotonia. Inclusion criteria were increased creatinine kinase (CK) and muscle stiffness. We collected data regarding family history, age of onset, and current therapeutic plan. All patients underwent skeletal muscle electromyography, cardiological evaluation, spirometry study, and hematochemistry assessment, including but not limited to muscle enzyme levels. Afterward, DNA was extracted from peripheral blood. Subsequently, whole exome sequencing (WES) and Sanger sequencing were done to detect and confirm variants, respectively. Age of onset ranged from 1 to 12 years in these patients, which are years apart from their first visit to the clinic. The warm-up phenomenon was present in all of them. A variant of uncertain clinical significance was found. We recommend that future research projects should study the efficiency of collaboration between clinicians, molecular geneticists, and other healthcare providers in order to find out about unclear variants as quickly as possible.

ABO and Rh blood groups in patients with lupus and rheumatoid arthritis.

BACKGROUND: Systemic lupus erythematous (SLE) and rheumatoid arthritis (RA) are autoimmune diseases in which the antigen-antibody system plays an important role. As blood group and Rh are determined by the presence or absence of antigens on the surface of red blood cells (RBCs), we aimed to determine the distribution of ABO and Rh blood groups in SLE and RA patients and its association with disease manifestations. METHODS: This short communication is based on a study that was conducted on 434 SLE and 828 RA patients. We evaluated the distribution of ABO and Rh blood groups in RA and SLE patients. RESULTS: This study projected that in lupus patients, Coombs-positive autoimmune hemolytic anemia and arthritis were more common among the B blood type and Rh-positive group, respectively. Furthermore, there was no relation between ABO and Rh blood group and rheumatoid factor (RF) and anti-Cyclic Citrullinated Peptide (anti-CCP) seropositivity. Moreover, there was no difference in distribution of blood groups in RA and SLE patients. CONCLUSION: The higher frequency of blood group B in hemolytic anemia, and positive Rh in arthritis in lupus patients, develop the hypothesis of probable role of ABO blood group antigen in some manifestations of lupus.

The Efficacy of Glasgow Coma Scale (GCS) Score and Acute Physiology and Chronic Health Evaluation (APACHE) II for Predicting Hospital Mortality of ICU Patients with Acute Traumatic Brain Injury.

OBJECTIVE: To compare the efficacy and functional outcome of Glasgow Coma Scale (GCS) score with that of Acute Physiology and Chronic Health Evaluation Score II (APACHE II) in patients with multiple trauma admitted to the ICU. METHODS: This cross-sectional study included 125 patients with traumatic brain injury associated with systemic trauma admitted to the ICU of Shahid Kamyab Hospital, Mashhad, between September 2015 and December 2016. On the day of admission, data were collected from each patient to calculate GCS and APACHE II scores. Sensitivity, specificity, and correct outcome prediction was compared between GCS and APACHE II. RESULTS: Positive predictive value (PPV) at the cut-off points was higher in APACHE II (80.6%) compared with GCS (69.2%). However, negative predictive value (NPV) of GCS was slightly higher in comparison with APACHE II. Moreover, the area under the receiver operating characteristic (ROC) curve for sensitivity and specificity of GCS and APACHE II showed no significant difference (0.81±0.04 vs. 0.83±0.04; p=0.278 respectively). CONCLUSION: Our study suggested that there was no considerable difference between GCS and APACHE II scores for predicting mortality in head injury patients. Both scales showed acceptable PPV, while APACHE II showed better results. However, the utilization of GCS in the initial assessment is recommended over APACHE II as the former provides higher time- and cost-efficiency.

Nonionic surfactant and interfacial structure impact crystallinity and stability of ß-carotene loaded lipid nanodispersions.

The stability, crystallization, and melting behavior of canola stearin (CaSt) solid lipid nanoparticle dispersions (SLN) and canola oil-in-water emulsions (COE) with 10 wt % Poloxamer 188 (P188) or Tween 20 (T20) with and without 0.1 wt % ß-carotene (BC) were investigated. Particles or droplets with diameters in the range of 115 nm were formed and stable for up to 90 days at 4 or 20 °C. Polymorphism was affected by surfactant type; that is, only ß versus both ß' and ß were observed for the P188 and T20 SLN, respectively. According to Cryo-TEM, the emulsions and SLN were spherical versus platelet-like structures, respectively, with differences observed between SLN with P188 or T20. More surfactant was interfacially adsorbed in the SLN versus COE. Incorporation of BC at 0.1 wt % had no impact on SLN or COE size, polymorphism, or melting behavior. Less BC degradation was observed for the SLN versus COE and during storage at 4 versus 20 °C (p < 0.05).

Digestibility and ß-carotene release from lipid nanodispersions depend on dispersed phase crystallinity and interfacial properties.

The influence of interfacial structure and lipid physical state on colloidal stability and digestibility of solid lipid nanoparticle dispersions (SLN) and canola oil-in-water emulsions (COE) stabilized with the non-ionic surfactants Poloxamer 188 (P188) and Tween 20 (T20) were examined and the release of encapsulated ß-carotene (BC) under simulated gastrointestinal conditions determined. While the SLN and COE were all stable during exposure to gastric conditions (mean diameter ∼115 nm), more destabilization was observed for the COE than SLN during the duodenal phase. ζ-Potential measurements indicated rapid adsorption of bile salts (BS) and phospholipids (PL) to both solid and liquid interfaces, with greater surfactant displacement observed for the COE. Compared to the SLN, significantly more lipolysis and BC transfer to the aqueous phase was observed for both the COE-P188 and COE-T20 (p < 0.05). The properties of the colloidal structures present in the aqueous phase, which are important in terms of the uptake of lipolytic products and lipophilic bioactives, depended on non-ionic surfactant type, the extent of lipid digestion, as well as the presence of BS and PL.

Release of lipophilic molecules during in vitro digestion of soy protein-stabilized emulsions.

SCOPE: Solubilization of lipophilic bioactives in gastrointestinal fluids contributes to their bioavailability, but a better understanding of the transfer processes involved and the impact of molecular structure is required. METHODS AND RESULTS: The transfer of ß-carotene (BC), coenzyme Q10 (CoQ10), vitamin D3 (VitD3), and phytosterols (PSs) from soy protein isolate-stabilized oil-in-water emulsions to the aqueous phase during in vitro digestion was investigated. In the absence of lipolysis, transfer was mainly governed by molecular structure and partitioning within the oil droplets. Less than 3% BC and CoQ10, versus 30.4 ± 0.3% PSs and 24.7 ± 0.4% VitD3, were transferred in this case. However, with lipolysis, PSs and VitD3 rapidly partitioned into the aqueous phase, while lag phases and slower transfer rates were observed for BC and CoQ10. Positive and linear correlations between lipolysis and transfer were observed for all systems. After 2 h exposure to simulated duodenal conditions, there were no differences between percent micellization, except for BC which was proportionally lower. VitD3 and PSs mutually enhanced each other's transfer, while no interactions were observed between VitD3 and BC. CONCLUSION: Bioactive molecular structure and co-administration influenced the transfer behaviour, with implications for foods designed to optimize health benefits.

Impact of interfacial composition on emulsion digestion and rate of lipid hydrolysis using different in vitro digestion models.

A sequential in vitro model of digestion was used to investigate the changes in the physicochemical properties of emulsions during gastrointestinal transit. Oil-in-water emulsions were prepared with whey protein isolate (WPI) or soy protein isolate (SPI) at the same protein concentration (1.5%). Despite pepsinolysis of both proteins during the gastric phase, emulsions stabilized with WPI were more stable compared to those prepared with SPI. For both emulsions, the size of the oil droplets, which plays a critical role in lipid digestion, was extensively altered during the duodenal phase due to the presence of bile salts (BS) and phospholipids (PL). As shown by ζ-potential measurements, the results suggested the displacement of both proteins from the interface by BS; however, the displacement was much faster for the WPI-emulsions. The change in interfacial composition of the oil droplets was significantly affected by inclusion of PL and phospholipase A(2) (PLA(2)) in the in vitro digestion model. The interfacial activity of pancreatic triglyceride lipase (PTL) was markedly affected in the presence of the surface-active compounds present in the digestive fluids, including BS, PL, colipase (COL) and PLA(2). A higher percentage of lipid hydrolysis was obtained in the presence of COL and PLA(2) than with BS alone or mixed BS-PL. SPI-emulsions consistently showed a higher degree of lipolysis compared to the WPI-emulsions regardless of the in vitro digestion model used. The results support the conclusion that the interfacial composition of the original emulsion plays a major role in determining the extent of lipolysis.

Surface adsorption alters the susceptibility of whey proteins to pepsin-digestion.

An in vitro digestion model mimicking the gastric phase of the human gastrointestinal tract coupled with SDS-PAGE and MALDI-TOF mass spectroscopy was employed to study the hydrolysis profiles of whey proteins in solution and adsorbed at the oil-water interface. The objective of this work was to understand the differences in hydrolysis behaviour of whey protein isolates once adsorbed at the interface, and comparisons were carried out with pure beta-lactoglobulin and alpha-lactalbumin fractions. In solution, while beta-lactoglobulin appeared to be resistant to enzymatic treatment, alpha-lactalbumin was fully degraded. Adsorption of both proteins at the oil-water interface affected their conformational structure and susceptibility to peptic hydrolysis. Adsorbed beta-lactoglobulin was hydrolyzed into small polypeptides and in contrast, the resistance of alpha-lactalbumin to pepsin increased upon adsorption at the interface. In addition, changes in the particle size distribution of the droplets during pepsin hydrolysis mainly depended on the original protein concentration. The results suggested that exchanges occur at the interface between adsorbed and non-adsorbed protein, that is to say that either some protein desorb from the interface and does not fully recover its structure in solution, or that hydrolysis of the protein at the interface induces further adsorption and hydrolysis of the protein in solution. These mechanisms have important implications in the digestibility of the proteins.

Interfacial design of protein-stabilized emulsions for optimal delivery of nutrients.

Proteins are often used as ingredients in food emulsions, as their amphiphilic structures provide electrostatic and steric stabilization. Significant attention has recently been directed at understanding how the composition and structure of oil-water interfaces change during digestion and how these can be manipulated to enhance the delivery of nutrients contained within the oil droplets. These efforts have necessitated the development of more sophisticated in vitro digestion models of greater physiological relevance and increased efforts in research to identify the role of the various digestive parameters on interfacial dynamics. The changes occurring at the oil-water interface will affect the adsorption of gastro-intestinal lipases and, ultimately, affect lipid digestion. The composition of a protein-stabilized oil droplet changes continuously during digestion, because of proteolysis and the formation of peptides with different affinities for the interface. In addition, natural bio-surfactants such as phospholipids and bile salts, other surface- active molecules present in foods, and the products of lipolysis (i.e. mono and diglycerides, lysophospholipids), all compete for access to the interface, and contribute to the dynamic changes occurring on the surface of the oil droplets. A better understanding of how to tailor the composition of oil droplet surfaces in food emulsions will aid in optimizing lipid digestion and, as a result, delivery of lipophilic nutrients. This review focuses on the physico-chemical changes occurring in protein-stabilized oil-in-water emulsions during gastric and small intestine digestion, and on how interfacial engineering could lead to differences in fatty acid release and the potential bioavailability of lipophilic molecules.

Protein recovery in soymilk and various soluble fractions as a function of genotype differences, changes during heating, and homogenization.

Harovinton, a variety of tofu type soybean, and 11 derived null soybean genotypes lacking specific glycinin (11S) and beta-conglycinin (7S) protein subunits were investigated to determine whether changes in protein composition affected the protein recovery in soymilk and its soluble fractions after various centrifugation steps. As both heating and homogenization have a marked effect on the increase in protein solubility, the changes occurring during these processing steps were studied for each soybean genotype. Harovinton and 11S-null genotypes showed significantly higher protein yields than the other genotypes evaluated. Subunits of group I (A(1), A(2)) of glycinin had a negative impact on protein solubility in all treatments, but this effect was the greatest in unheated soymilk samples. Samples containing a high beta-conglycinin to glycinin ratio showed an effect of heating on the solubility of the protein, as beta-conglycinin subunits aggregate with heating. The presence of the alpha' subunit of beta-conglycinin aids in the recovery of protein in the supernatant prepared from lines containing group I (A(1,4) A(2)) glycinin. The results of this study will help determine which specific protein composition will confer an increased stability in soymilk and soymilk-derived products.