Caracterización in situ de poblaciones de Aloysia gratissima var. gratissima recolectadas del noreste de la provincia de San Luis, Argentina / In situ characterization of populations of Aloysia gratissima var. gratissima collected from the northeast of the province of San Luis, Argentina

Abstract: The aerial part of Aloysia gratissima (Gil lies & Hook. ex Hook.) Tronc., "Usillo", is used as aromatic and medicinal. It is a shrub of up to 3 meters, distributed in North America, from the south of the USA to the north of Mexico, and in South America up to the 37th parallel. As in other native sp ecies, the demand is covered by harvesting in wild populations, which brings about the deterioration of the resource and lack of homogeneity of the harvested product. The variability was characterized in nine populations of A. gratissima var. gratissima fr om the northeast of San Luis, Argentina, based on morphological and phytochemical characters. It was found that the species in the region presents considerable heterogeneity. Diversity was detected in the chemical characteristics of the essential oils anal yzed and the prevalence of mono and sesquiterpenes was related to the olfactory identities identified. The main components were the sesquiterpene spatulenol and the monoterpene 1,8 cineole

Resumen: La parte aérea de Aloysia gratissima (Gillies & Hook. ex Hook.) Tronc., "usillo", es utilizada como aromática y medicinal. Es un arbusto de hasta 3 metros, distribuido en Norteamerica, desde e l sur de EEUU hasta el norte de México, y en Sudamerica hasta el paralelo 37°. Al igual que en otras especies nativas, la demanda es cubierta por recolección en poblaciones silvestres, lo cual trae aparejado el deterioro del recurso y falta de homogeneidad del producto cosechado. Se caracterizó la variabilidad en nueve poblaciones de A. gratissima var. gratissima del noreste de San Luis, Argentina, en base a caracteres morfológicos y fitoquímicos. Se encontró que la especie en la región presenta una conside rable heterogeneidad. Se detectó diversidad en las características químicas de los aceites esenciales analizados y se relacionó la prevalencia de mono y sesquiterpenos con las identidades olfativas identificadas. Los componentes mayoritarios fueron el sesq uiterpeno espatulenol y el monoterpeno 1,8 cineol.

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

ABSTRACT Background: Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incomplete penetrance and variable expression that result in a challenging diagnosis. Objective: The objective of the study was to describe the cardiac and extra-cardiac phenotype in a cohort of patients with ATS at risk of sudden cardiac death (SCD) to improve its early clinical identification. Methods: In an observational, transversal study, with a deviant case sampling, four female patients with ATS at high risk of SCD were included in the study. They carried the heterozygous pathogenic variants c.407C>T [p.Ser136Phe], c.652C>T [p.Arg218Trp] (n=2), and c.431G>C [p.Gly144Ala] in the KCNJ2 gene. Patients were evaluated by a cardiologist, a clinical geneticist, and a physiatrist. Results: One patient had the classical facial phenotype and the other three had subtle manifestations. The group of patients presented a diverse set of clinical data such as: triangular face, broad forehead, broadening of medial eyebrows, auricular pits, low-set ears, eyelid ptosis, thin lips, mandibular hypoplasia, and diverse types of dental alterations, single transverse palmar crease, camptodactyly, and syndactyly. Long-exercise test showed a decrement in the percentage amplitude up to 44%, classifying patients in IV or V types according to Fournier’s scale. Conclusions: Extra-cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.

Vibrio sp. ArtGut-C1, a polyhydroxybutyrate producer isolated from the gut of the aquaculture live diet Artemia (Crustacea)

BACKGROUND: Vibrio species display variable and plastic fitness strategies to survive and interact with multiple hosts, including marine aquaculture species that are severely affected by pathogenic Vibrios. The culturable Vibrio sp. strain ArtGut-C1, the focus of this study, provides new evidence of such phenotypic plasticity as it accumulates polyhydroxybutyrate (PHB), a biodegradable polymer with anti-pathogen activity, particularly in the marine larviculture phase. The strain was isolated from the gut of laboratory-reared Artemia individuals, the live diet and PHB carrier used in larviculture. Its main phenotypic properties, taxonomic status and genomic properties are reported based on the whole-genome sequencing. RESULTS: Vibrio sp. ArtGut-C1 yielded 72.6% PHB of cells' dry weight at 25 C. The genomic average nucleotide identity (ANI) shows it is closely related to V. diabolicus (ANI: 88.6%). Its genome contains 5,236,997- bp with 44.8% GC content, 3,710 protein-coding sequences, 96 RNA, 9 PHB genes functionally related to PHB metabolic pathways, and several genes linked to competing and colonizing abilities. CONCLUSIONS: This culturable PHB-accumulating Vibrio strain shows high genomic and phenotypic variability. It may be used as a natural pathogen biocontrol in the marine hatchery and as a potential cell factory for PHB production.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.

Impact of Altitude on Morphological Traits-based Phenotypic Variability in Bidens pilosa L. from Three Natural Regions of Burundi

Aims: To examine the possible influence of varying altitudes on the morphological traits-based phenotypic variability in Bidens pilosa L. Study Design: Randomly selected plants from each natural region. Place and Duration of Study: Three natural regions of Burundi, i.e. IMBO (842 m), KIRIMIRO (1645 m), and MUGAMBA (2075 m), between November 2015 and May 2016. Methodology: We randomly selected 36 plants (12 plants from each of the three sites of seed sowing and plant development) for which we measured plant life cycle stages such as the period of germination, the period of leaf formation, flowering period, fruit formation period and complete maturity period. Plant height, internode length, leaf length, leaf width, inflorescence length, achene length, inflorescence number, node number, achene number per inflorescence and achene number per plant, after plant complete maturity were also recorded. Obtained data were statistically analyzed. Results: Bidens pilosa from IMBO (842 m) showed the lowest periods of germination, leaf formation, flowering, fruit formation and complete maturity, while longest periods were observed in MUGAMBA (2075 m) region. In addition, one-way analysis of variance showed that phenotypic variation in Bidens pilosa was highly significant within and across populations (P = 0.000) for the studied quantitative morphological traits except the achene number/inflorescence (P = .887). Some traits increased with increase in altitude while others decreased with increase in altitude. Moreover, internode length, leaf length, inflorescence number and achene number per plant significantly differentiated the three populations from the three regions (P < 0.01). Cluster analysis revealed also that IMBO (842 m) population was different from KIRIMIRO (1645 m) and MUGAMBA (2075 m) which are tending to be closer. Conclusion: Altitudes significantly influenced phenotypic variability of Bidens pilosa. However, further studies on a wide range of morphological traits and altitudes are needed as well as biochemical and molecular analyses.

GLA Nonsense Mutation (c.485G>A) in a Three-Generation Family with Fabry’s Disease.

Background: GLA nonsense mutations seem to be associated with more severe clinical phenotype. Aims: Main aims were to identify the disease-causing mutation, to screen high risk family members and to predict the severity of clinical phenotype and age of onset based on genotype-phenotype analysis. Methods: Seven family members were clinically assessed and enzyme activity levels were evaluated as well. Genomic DNA was isolated from blood samples and analyzed for GLA gene mutation. Results: The proband, a 34-year-old man, was misdiagnosed for years. At 25 years of age he was diagnosed with Fabry’s disease. He had a less severe phenotype failing to express cardiac, cerebral or renal symptoms. In addition, the patient presented a ventricular septal defect as an incidental finding which has not been reported previously in Fabry’s disease. His maternal uncle had a severe classic form and, in addition, osteonecrosis of femoral head rarely reported as associated findings. All females were heterozygous; 3 of them were asymptomatic and 2 developed milder symptoms, skin and heart predominantly affected. Fabry’s disease was caused by the presence of GLA nonsense mutation c.485G>A. All close relatives of proband had one copy of the mutation. Conclusion: The family nonsense mutation c.485G>A known to predict the classic phenotype showed a wide range of clinical manifestations from severe to asymptomatic forms both in males and females supporting the intrafamilial phenotypic variability for Fabry’s disease.

Variación fenotípica de la concha en Neritinidae (Gastropoda: Neritimorpha) en ríos de Puerto Rico

Phenotypic variability of the shell in Neritinidae (Gastropoda: Neritimorpha) in Puerto Rican rivers. Gastropods of the Neritinidae family exhibit an amphidromous life cycle and an impressive variability in shell coloration in Puerto Rican streams and rivers. Various nominal species have been described, but Neritina virginea [Linné 1758], N. punctulata [Lamarck 1816] and N. reclivata [Say 1822] are the only broadly reported. However, recent studies have shown that these three species are sympatric at the river scale and that species determination might be difficult due to the presence of intermediate color morphs. Individuals (8 751) were collected from ten rivers across Puerto Rico, and from various segments and habitats in Mameyes River (the most pristine island-wide) during three years (2000-2003), and they were assigned to one of seven phenotypes corresponding to nominal species and morphs (non-nominal species). The “axial lines and dots” morph corresponding to N. reclivata was the most frequent island-wide, while the patelliform N. punctulata was scant, but the only found in headwater reaches. The “yellowish large tongues” phenotype, typical of N. virginea s.s. was the most frequent in the river mouth. The frequency of secondary phenotypes varied broadly among rivers, along the rivers, and among habitats, seemly influenced by salinity and predation gradients. The occurrence of individuals with coloration shifts after predation injuries, suggests phenotypic plasticity in the three nominal species, and urges for the use of molecular markers to unravel the possible occurrence of a species complex, and to understand the genetic basis of polymorphism. The longitudinal distribution of individual sizes, population density and egg capsules suggested the adaptive value of upstream migration, possibly to avoid marine predators. Rev. Biol. Trop. 62 (Suppl. 2): 53-68. Epub 2014 April 01.

Los gasterópodos Neritinidae de Puerto Rico presentan un ciclo de vida anfídromo y exhiben polimorfismo en los patrones de coloración de la concha. Se identificó que la oviposición aumenta río arriba conforme los individuos alcanzan mayores tamaños, a pesar de que la densidad poblacional disminuye. La frecuencia de siete fenotipos previamente establecidos se analizó en diez ríos de la isla durante dos años (n=8 751 individuos). Debido a que el río Mameyes es el más conservado, se tomó como modelo para estudiar la variación a lo largo del río y entre hábitats durante tres años. El fenotipo de líneas axiales y puntos (N. virginea) fue el predominante en toda la isla y el fenotipo pateloide (N. punctulata) fue el menos frecuente. Se observaron diferencias significativas de las frecuencias de los fenotipos (principalmente en los secundarios) entre ríos, a lo largo de ellos y entre hábitats. Esta variabilidad espacial puede responder a gradientes de salinidad y depredación. Se observó plasticidad fenotípica en algunos individuos.

Survival strategies of Bacillus spores in food.

Control of bacterial spores is one of the major problem in the food preservation. Spores of Bacillus genus are commonly present in different environments, including soil and the gut of insects and animals and, as a result, they can be spread to all kind of foods. Due to their high resistance properties, their complete inactivation in food is often impossible without changing the product characteristics. Surviving spores can germinate and grow out to vegetative cells, with the consequent great risk of food spoilage and food poisoning after consumption. Spores have evolved various mechanisms, including phenotypic variability, to protect themselves from a wide range of damage resulting from food preservation treatments. Even if the phenotypic heterogeneity contributes to increase the chances of survival of Bacillus spore to conventional preservation treatments, in some specific instances, an homogeneous response could be the result of a strategy adopted by the spores to increase resistance to those treatments.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.