Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

Hereditary folate malabsorption is a rare autosomal recessive disorder caused by impaired active folate transport across membranes and into the central nervous system due to loss-of-function mutations in proton-coupled folate transporter (PCFT). Newborns with this condition have initially normal folate stores, but as they are unable to absorb dietary folate and use rapidly their stores because of their growth demands, symptoms appear in the early infancy. Significant neurological morbidity usually follows the initial non-specific clinical presentation and delayed initiation of treatment. High dose oral and parenteral folinic acid treatment have been previously reported in literature to improve the clinical outcome without achieving optimal cerebrospinal fluid (CSF) folate levels though. The active isomer of 5-formyltetrahydrofolate, also known as levofolinic acid, is available for administration. We report our experience in achieving normal (age dependent) CSF 5-Methyltetrahydrofolate (5-MTHF) levels following daily intramuscular administration of levofolinic acid in three patients with HFM. Follow-up assessment with repeated lumbar punctures has shown a stabilization of 5-MTHF levels within normal range. Clinical features and brain MRI findings had as well either improvement or stabilization. To the best of our knowledge, we provide as well for the first time data in regard to the im levofolinate treatment dosage

Consumer behaviour towards delicatessen products and branding influence

It is a fact that branding is a tool for the business to get stronger and also embrace sustainability, which can apply to the delicatessen product market. In addition, the demand of delicatessen products has increased as new trends emerged. Greek businesses have successfully entered the market, advertising the superiority of delicatessen products. The aim of this paper is to provide better understanding of consumer behaviour towards delicatessen products. This is achieved through the views of market experts and a research on consumers investigating how branding influences them. The findings show that there are differences between market experts' opinions and consumers' preferences, which can contribute to the holistic development of the delicatessen market. Finally, this study may provide a basis for a survey of a larger sample of delicatessen firms nationwide and contributes important knowledge to enhance further development in the delicatessen sector and in the management and marketing approach of the market of Thessaloniki

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

Objective: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditional indicators of mitochondrial disease predict a confirmed genetic diagnosis. Methods: We investigated a cohort of 85 pediatric patients using clinical exome sequencing and compared the results with the outcome of traditional diagnostic tests, including biochemical testing of routine parameters (lactate, alanine, and proline), neuroimaging, and muscle biopsy with histology and respiratory chain enzyme activity studies. Results: We established a genetic diagnosis in 36.5% of the cohort and report 20 novel disease-causing variants (1 mitochondrial DNA). Counterintuitively, routine biochemical markers were more predictive of mitochondrial disease than more invasive and elaborate muscle studies. Conclusions: We propose using biochemical markers to support the clinical suspicion of mitochondrial disease and then apply first-line clinical exome sequencing to identify a definite diagnosis. Muscle biopsy studies should only be used in clinically urgent situations or to confirm an inconclusive genetic result. Classification of Evidence: This is a Class II diagnostic accuracy study showing that the combination of CSF and plasma biochemical tests plus neuroimaging could predict the presence or absence of exome sequencing confirmed mitochondrial disorders

Comparative efficiency of honeycomb and conventional pedigree methods of selection for yield and fiber quality in cotton (Gossypium spp.)

The effectiveness of honeycomb pedigree selection (HPS) as compared to conventional pedigree selection (CPS) was studied in one intraspecific (G. hirsutum L. x G. hirsutum L.) cross population (population I) and one interspecific ( G. hirsutum L. x G.barbadense L.) cross population (population II). Combined selection for yield and lint quality traits was applied for four cycles at two locations for population I and at one location for population II. Finally, the best F-6 lines derived by each method, together with the unselected population derived by single seed descent (SSD) and three check cultivars, were tested in comparative experiments, separately for each cross, at the same locations. In both populations the analysis of variance indicated significant differences among the groups of the material tested for seedcotton yield, mean boll weight, micronaire reading, staple length, and uniformity ratio. No significant differences were found with respect to plant height, lint percentage, and fiber strength in population I and with respect to lint percentage and fiber strength in population II. In population I, on the basis of mean seedcotton yield and number of superior lines derived by each method as compared to the check varieties and the unselected SSD population, HPS-lines were superior to CPS-lines for seedcotton yield, fiber length and boll weight. HPS-lines, however, did not differ significantly in seedcotton yield from the best check cultivar Eva. Finally, the material derived by CPS was earlier in maturity than the material derived by HPS and SSD. Also in population II, on the basis of mean seedcotton yield and number of superior lines derived by each method as compared to the unselected SSD population, HPS-lines were superior to CPS-lines. No significant differences, however, were identified between the material of the two methods for lint quality traits. It was concluded that in both populations HPS was more effective than CPS in identifying lines with high yielding ability and good lint quality. This superiority of HPS is attributed, at least partially, to its effectiveness in early generation selection

MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation

Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient's father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation

Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient's father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes