CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.

BACKGROUND: Early infantile epileptic encephalopathy is a severe form of epilepsy that is genetically extremely heterogeneous and characterized by seizures or spasms at the beginning of infancy. Homozygous or compound heterozygous mutation in the CAD gene cause early infantile epileptic encephalopathy-50 (EIEE50). This case report describes the clinical and molecular features of three patients affected with early infantile epileptic encephalopathy. CASE PRESENTATION: In this report, we describe the clinical features of two deceased daughters and one recently deceased son affected with seizure, muscular hypotonia, and developmental delay. After genetic counseling, blood samples were obtained from the parents, and whole-exome sequencing was performed. Genomic DNA was extracted from whole blood, and mutation analysis was performed using PCR and sequencing methods for the CAD gene. Genetic analysis using the whole-exome sequencing method has detected a novel likely pathogenic mutation on CAD gene, c.2995G > A (p.Val999Met), in heterozygous states in asymptomatic parents and homozygous state in affected newborn son. This mutation has not been reported in the literature for its pathogenicity. CONCLUSIONS: The asymptomatic parents are carriers for the likely pathogenic variant in the CAD gene, and the recently deceased newborn son had the same mutation in a homozygous state. Given that, multiple lines of in silico computational analysis support the detrimental impact of the variant on the gene, and this variant is absent in population databases. Pathogenic mutations in the CAD gene are related to autosomal recessive EIEE50 with similar signs and symptoms to our patients. Ultimately, it is confirmed that this mutation is causative in our patients.

Comparing the Effect of Arabic, Basil Seed and Salvia Macrosiphon Gums-Based Coatings on the Shelf-Life of Tomatoes.

A novel edible coating containing basil seed gum (0.1, 0.3, and 0.5%), Salvia macrosiphon seed gum (0.25, 0.5, and 0.75%), and Arabic gum (10%) at normal pH and pH 5/6 has been used as a postharvest treatment to maintain tomato quality and safety. In this study, the physicochemical properties of tomatoes were investigated during 35 days of storage at 4°C. During storage, coated fruit showed increases in vitamin C retention, reduced weight loss, color changes, and accelerated softening. However, treatment of tomatoes with gum significantly delayed onset of parameters related to loss of postharvest quality, and storability was extended. All the coated samples had increased vitamin C retention compared with controls, with highest contents observed for tomatoes coated in basil seed gum 0.1% and Arabic gum at pH 5.6. In conclusion, basil seed gum 0.1%, S. macrosiphon seed gum 0.25 and 0.5%, and Arabic gum at normal pH were the best treatments for maintaining postharvest quality of tomatoes.

Laparoscopic Liver Resection Difficulty Score-a Validation Study.

OBJECTIVE(S): The technical complexity of laparoscopic liver resection (LLR) poses unique challenges distinct from open surgery. An objective scoring system was developed that preoperatively quantifies the difficulty of LRR to help guide surgeon decision-making regarding the feasibility and safety of minimally invasive approaches. The aim of this multiinstitutional study was to externally validate this scoring system. METHODS: Patients who underwent LLR at two institutions were reviewed. LLR difficulty score (LDS) was calculated based on patient, tumor, and anatomic characteristics by two independent, blinded hepatobiliary surgeons. Surrogates of case complexity (e.g., conversion rate, operative time) were used for validation of this index. RESULTS: From 2006 to 2016, 444 LLR were scored as low (n = 94), intermediate (n = 98), and high difficulty (n = 152) with respective conversion rates of 5.3%, 15.7%, and 25%. Cases of higher LDS correlated with larger mean blood loss (203 ml vs. 331 ml vs. 635 ml). Mean operative and Pringle maneuver used were associated with increasing LDS (155 min vs. 202 min vs. 315 min and 14.4% vs. 29.7% vs. 45.1% respectively). These operative surrogates of difficulty correlated significantly with the LDS (all p < 0.0001). CONCLUSIONS: This comprehensive external validation of the LDS is robust and applicable in diverse patient populations. This LDS serves as a useful objective predictor of technical difficulty for LLR to help surgeons in selecting patients according to their individual operative experience and is valuable for preoperative risk estimation and stratification in randomized trials.