Valoración Integral de la diabetes. Consulta monográfica para detección y seguimiento de complicaciones / Comprehensive Assessment Of The Patient With Diabetes. Monographic Consultation For The Detection And Monitoring Of Complications

La enfermedad cardiovascular incide de manera más precoz y presenta mayor mortalidad en pacientes con diabetes mellitus tipo 2. El Programa de prevención y control de la Enfermedad Vascular Aterosclerótica de Canarias recomienda la realización anual de diferentes cribados en estos pacientes para la detección precoz y prevención de complicaciones. La consulta de valoración integral del paciente con diabetes tipo 2, liderada por una enfermera especialista en Enfermería Familiar y Comunitaria realiza, en una única visita, las actividades de prevención incluidas en este programa, mejorando los indicadores de proceso. Este nuevo modelo de organización mejora notablemente el desarrollo de actividades de prevención y detección precoz de complicaciones. (AU)

Cardiovascular disease affects earlier and presents higher mortality in patients with type 2 diabetes. The Program for the Prevention and Control of Atherosclerotic Vascular Disease of the Canary Islands recommends carrying out different annual screenings in these patients for early detection and prevention of complications. The Comprehensive Assessment Consultation for patient with type 2 diabetes, led by a nurse specailized in Family and Community Nursing, carries out, in a single visit, the prevention activities included in this program, improving process indicators. This new oraginzational model significantly improves the development of prevention activities and early detection of complications. (AU)

Leucodistrofia metacromática del adulto: reporte de caso / Adult-onset metachromatic leukodystrophy

RESUMEN INTRODUCCIÓN: La leucodistrofia metacromática (LDM) es una enfermedad poco frecuente que se caracteriza por desmielinización progresiva a nivel del sistema nervioso central y periférico. En la mayoría de los casos, es causada por una actividad deficiente de la enzima arilsulfatasa-A. Pertenece al grupo de las leucodistrofias, que son trastornos hereditarios de la sustancia blanca asociados con una variabilidad fenotípica y una heterogeneidad genética importante. El fenotipo de la LDM suele relacionarse con la edad de presentación, que puede variar desde la infancia hasta la adultez. Cuando se presenta en la edad adulta, puede debutar con manifestaciones neuropsiquiátricas, lo que lleva con frecuencia a diagnósticos erróneos. REPORTE DE CASO: Se presenta el caso de una paciente adulta que debutó con un cuadro clínico caracterizado por cambios comportamentales progresivos, con posterior inicio de manifestaciones clínicas motoras. El diagnóstico de LDM se sospechó a partir de la clínica y los hallazgos típicos en la resonancia magnética (RM) cerebral, y se confirmó con la detección de actividad deficiente de la arilsulfatasa-A (ARSA) y la secuenciación del gen ARSA que confirmó la mutación en estado homocigoto, compatible con este diagnóstico. DISCUSIÓN: Destacamos en este caso la importancia de la sospecha clínica, el reconocimiento temprano y el manejo multidisciplinario como factores pronósticos del curso de la enfermedad, ya que en la actualidad no hay tratamiento definitivo para la enfermedad.

ABSTRACT INTRODUCTION: Metachromatic leukodystrophy (MLD) is an infrequent disease characterized by progressive demyelination of the central and peripheral nervous system. In most cases, it is caused by deficient activity of arylsulfatase-A. It belongs to the group of leukodystrophies, which are inherited white matter disorders that can be associated with significant phenotypic variability and genetic heterogeneity. The phenotype in MLD is usually related to the age of onset, which can vary from childhood to adulthood. Adult-onset MLD can debut with neuropsychiatry symptoms, which can often lead to misdiagnosis. CASE REPORT: We report the case of an adult female patient who presented with progressive behavioral changes, followed by motor manifestations. MLD was initially suspected based on the clinical presentation and the characteristic findings on brain magnetic resonance imaging (MRI), with subsequent confirmation by detection of deficient arylsulfatase-A (ARSA) activity and ARSA gene sequencing, which demonstrated homozygosity, compatible with this diagnosis. DISCUSSION: We highlight the importance of clinical suspicion, early recognition and multidisciplinary management as a prognostic factor for the course of the disease, since there is currently no definitive treatment for the disease.

Expanding the clinical phenotype of FGFR1 internal tandem duplication.

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (FGFR1) gene was found. This ITD variant is somatic mosaic in nature as supported by a diminished variant allele frequency in the lesional tissue and by its absence in peripheral blood. FGFR1 ITD results in constitutive activation of the receptor tyrosine kinase to promote cell growth, differentiation, and survival through RAS/MAPK signaling. Identification of FGFR1 ITD outside of central nervous system tumors is exceedingly rare, and this report broadens the phenotypic spectrum of somatic mosaic FGFR1-related disease.

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Synpolydactyly 1, also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is caused by heterozygous alterations in HOXD13 with incomplete penetrance and phenotypic variability. In our study, a five-generation family with an SPD phenotype was enrolled in our Rare Disease Genomics Protocol. A comprehensive examination of three generations using Illumina short-read whole-genome sequencing (WGS) did not identify any causative variants. Subsequent WGS using Pacific Biosciences (PacBio) long-read HiFi Circular Consensus Sequencing (CCS) revealed a heterozygous 27-bp duplication in the polyalanine tract of HOXD13. Sanger sequencing of all available family members confirmed that the variant segregates with affected individuals. Reanalysis of an unrelated family with a similar SPD phenotype uncovered a 21-bp (7-alanine) duplication in the same region of HOXD13. Although ExpansionHunter identified these events in most individuals in a retrospective analysis, low sequence coverage due to high GC content in the HOXD13 polyalanine tract makes detection of these events challenging. Our findings highlight the value of long-read WGS in elucidating the molecular etiology of congenital limb malformation disorders.

Elemental composition, rare earths and minority elements in organic and conventional wines from volcanic areas: The Canary Islands (Spain).

The organic wine market is rapidly growing worldwide, both in terms of production and consumption. However, the scientific literature is not conclusive regarding differences in the elemental composition of wines according to their production method, including both major and trace elements. Minerals can be present in wine as a result of both anthropogenic and environmental factors. To date, this has not been evaluated in volcanic contexts, neither has the emergent issue of rare earths and other minority elements as potential sources of food contamination. This study using inductively coupled plasma mass spectrometry (ICP-MS) analyses organic and conventional wines produced in the Canary Islands (Spain), an archipelago of volcanic origin, to compare their content of 49 elements, including rare earths and minority elements. Our results showed that organic wines presented lower potential toxic element content on average than their conventional counterparts, but differences were not significant. Geographical origin of the wine samples (island) was the only significant variable differentiating wine samples by their composition profiles. By comparing our data with the literature, no agreement was found in terms of differences between organic and conventionally-produced wines. This confirms that other factors prevail over elemental composition when considering differences between wine production methods. Regarding the toxicological profile of the wines, five samples (three organic and two conventional) exceeded the maximum limits established by international legislation. This highlights the need for stricter analytical monitoring in the Canary Islands, with a particular focus on Cu and Ni concentration, and potentially in other volcanic areas.

Physicochemical Characterization of Resistant Starch Type-III (RS3) Obtained by Autoclaving Malanga (Xanthosoma sagittifolium) Flour and Corn Starch.

The feasibility of obtaining resistant starch type III (RS3) from malanga flour (Xanthosoma sagittifolium), as an unconventional source of starch, was evaluated using the hydrothermal treatment of autoclaving. The physicochemical characterization of RS3 made from malanga flour was carried out through the evaluation of the chemical composition, color attributes, and thermal properties. In addition, the contents of the total starch, available starch, resistant starch, and retrograded resistant starch were determined by in vitro enzymatic tests. A commercial corn starch sample was used to produce RS3 and utilized to compare all of the analyses. The results showed that native malanga flour behaved differently in most of the evaluations performed, compared to the commercial corn starch. These results could be explained by the presence of minor components that could interfere with the physicochemical and functional properties of the flour; however, the RS3 samples obtained from malanga flour and corn starch were similar in their thermal and morphological features, which may be related to their similarities in the content and molecular weight of amylose, in both of the samples. Furthermore, the yields for obtaining the autoclaved powders from corn starch and malanga flour were similar (≈89%), which showed that the malanga flour is an attractive raw material for obtaining RS3 with adequate yields, to be considered in the subsequent research.

Solar Radiation as an Isolated Environmental Factor in an Experimental Mesocosm Approach for Studying Photosynthetic Acclimation of Macrocystis pyrifera (Ochrophyta).

Solar radiation effects on the ecophysiology and biochemical responses of the brown macroalga Macrocystis pyrifera (L.) C. Agardh were evaluated using a mesocosm approach in Southern Chile. Treatments with different radiation attenuations were simulated with three vertical attenuation coefficients: (1) total (Kd = 0.8 m-1), (2) attenuated (Kd = 1.2 m-1), and (3) low (Kd = 1.6 m-1) radiation levels. Nutrient concentration and temperature did not show differences under the three light conditions. Photosynthetic activity was estimated by in vivo chlorophyll a (Chla) fluorescence under the three light treatments as an isolated physical factor in both in situ solar radiation in the field. This was achieved using a pulse amplitude-modulated (PAM) fluorometera-Diving PAM (in situ). Photosynthetic activity and biochemical composition were measured in winter during two daily cycles (1DC and 2DC) in different parts of the thalli of the plant: (1) canopy zone, (2) middle zone, and (3) down zone, associated with different depths in the mesocosm system. Nevertheless, the in situ electron transport rate (ETR in situ ) was higher in the exposed thalli of the canopy zone, independent of the light treatment conditions. The concentration of phenolic compounds (PC) increases in the down zone in the first daily cycle, and it was higher in the middle zone in the second daily cycle. The Chla increased in the morning time under total and attenuated radiation in the first daily cycle. Solar radiation increasing at midday prompted the photoinhibition of photosynthesis in the canopy zone but also an increase in productivity and phenol content. Therefore, light attenuation in the water column drove key differences in the photo-physiological responses of M. pyrifera, with the highest productivity occurring in thalli positioned in the canopy zone when exposed to solar irradiance.

Chitosan Films Obtained from Brachystola magna (Girard) and Its Evaluation on Quality Attributes in Sausages during Storage.

High molecular weight chitosan (≈322 kDa) was obtained from chitin isolated from Brachystola magna (Girard) to produced biodegradable films. Their physicochemical, mechanical and water vapor permeability (WVP) properties were compared against commercial chitosan films with different molecular weights. Brachystola magna chitosan films (CFBM) exhibited similar physicochemical and mechanical characteristics to those of commercial chitosans. The CFBM films presented lower WVP values (10.01 × 10-11 g/m s Pa) than commercial chitosans films (from 16.06 × 10-11 to 64.30 × 10-11 g/m s Pa). Frankfurt-type sausages were covered with chitosan films and stored in refrigerated conditions (4 °C). Their quality attributes (color, weight loss, pH, moisture, texture and lipid oxidation) were evaluated at 0, 5, 10, 15 and 20 days. Sausages covered with CFMB films presented the lowest weight loss (from 1.24% to 2.38%). A higher increase in hardness (from 22.32 N to 30.63 N) was observed in sausages covered with CFMB films. Compared with other films and the control (uncovered sausages), CFMB films delay pH reduction. Moreover, this film presents the lower lipid oxidation level (0.10 malonaldehyde mg/sample kg). Thus, chitosan of B. magna could be a good alternative as packaging material for meat products with high-fat content.

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Histopathology showed an embryonal tumor with focal Flexner-Wintersteiner-like rosettes and loss of retinoblastoma protein (RB1) expression by immunohistochemistry. DNA array-based methylation profiling confidently classified the tumor as pineoblastoma group A/intracranial retinoblastoma. The patient was subsequently enrolled on an institutional translational cancer research protocol and underwent comprehensive molecular profiling, including paired tumor/normal exome and genome sequencing and RNA-sequencing of the tumor. Additionally, Pacific Biosciences (PacBio) Single Molecule Real Time (SMRT) sequencing was performed from comparator normal and disease-involved tissue to resolve complex structural variations. RNA-sequencing revealed multiple fusions clustered within 13q14.1-q21.3, including a novel in-frame fusion of RB1-SIAH3 predicted to prematurely truncate the RB1 protein. SMRT sequencing revealed a complex structural rearrangement spanning 13q14.11-q31.3, including two somatic structural variants within intron 17 of RB1. These events corresponded to the RB1-SIAH3 fusion and a novel RB1 rearrangement expected to correlate with the complete absence of RB1 protein expression. Comprehensive molecular analysis, including DNA array-based methylation profiling and sequencing-based methodologies, were critical for classification and understanding the complex mechanism of RB1 inactivation in this diagnostically challenging tumor.

Characterization of insect chitosan films from Tenebrio molitor and Brachystola magna and its comparison with commercial chitosan of different molecular weights.

Insects are considered as alternative sources of chitosan; however, studies about the functional film-forming properties of insect chitosan are scarce. Insect chitosan films were made from Tenebrio molitor and Brachystola magna and were compared with commercial chitosan of different molecular weights (Mw). Mechanical properties (tensile strength, TS; elastic modulus, EM; elongation at break, %E), water vapor permeability (WVP) and physicochemical properties were characterized. The film properties of both commercial and insect chitosan were affected by Mw. Commercial chitosan films showed that at lower Mw, the TS (from 59 to 48 MPa) and EM (from 1471 to 1286 MPa) decreased; whereas WVP (from 2.9 × 10-11 to 3.4 × 10-11 g m-1s-1Pa-1), % E (from 38 to 41%) and solubility (from 30 to 33%) increased. Chitosan insect films showed lower TS and EM, and higher WPV, %E and solubility than commercial films. SEM revealed that chitosan insect films had lower porosity than commercial films. FTIR and X-ray diffraction showed not difference between insect and commercial chitosan films. These results showed that T. molitor and B. magna chitosan films could be used as a packaging material in several food products.

Evaluation of Cooking Quality, Nutritional and Texture Characteristics of Pasta Added with Oat Bran and Apple Flour.

This study reports the effect of the addition of oat bran and apple flour on the cooking quality, digestibility, antioxidant, nutritional and texture characteristics of a spaghetti-type pasta. Pasta samples were prepared by substituting 50% of durum wheat semolina with oat bran (OBP) or apple flour (AFP). AFP presented higher cooking loss and water absorption index than the control pasta prepared with 100% durum wheat semolina (WSP). The supplementation of pasta with oat bran increased the total dietary fiber content (16.43% w/w, dw), while apple flour decreased the protein content (11.16% w/w, dw). There was no significant difference in the resistant starch content among all pasta samples. The pasta samples made with 50/50 durum wheat semolina/oat bran and 50/50 durum wheat semolina/apple flour increased the antioxidant activity by ≈46% and ≈97%, respectively. The OBP and AFP samples had a similar texture to the control pasta. A 50% replacement of durum wheat semolina with oat bran in a pasta formulation decreased the caloric content and digestibility of its starch components. These attributes found in the oat bran pasta and apple flour pasta make them a healthy choice for the diet of people with specific nutritional needs.

Photosynthesis and nitrogen uptake of the giant kelp Macrocystis pyrifera (Ochrophyta) grown close to salmon farms.

Finfish aquaculture is an activity that has experienced an explosive global development, but presents several environmental risks, such as high nitrogen outputs with potential eutrophication consequences. Therefore, the integration of seaweed aquaculture with the aim of decreasing nitrogen emissions associated with intensive salmon farming has been proposed as a bioremediation solution. Ecophysiological knowledge about seaweeds cultured close to farming cages is, however, still rudimentary. We experimentally studied the growth and physiological responses of Macrocystis pyrifera (Linnaeus) C. Agardh in a suspended culture system near a commercial salmon farm at three culture depths in order to understand its productivity performance. The results showed maximum growth responses at intermediate depths (3 m) as opposed to near the surface (1 m) or at a deeper culture level (6 m). At 6 m depth, light limitations were detected, whereas the sporophytes growing at 1 m depth responded to high irradiances, especially in late spring and summer, where they were more intensely exposed to decay of photosynthesis than individuals from other depths. Accordingly, photosynthetic pigment concentrations (chlorophyll a and c, and fucoxonthin) were higher during low-light seasons (winter and early spring) but decreased during the summer. On the other hand, although both nitrogen uptake and Nitrate Reductase (NR) activity varied seasonally, increasing significantly in spring and summer, these variables were not affected by culture depth. Therefore, the optimal culture depth of M. pyrifera near salmon farms appears to be a physiological integration between nitrogen supply and demand, which is modulated by plant acclimation to the seasonal change in light and temperature. The results allow to discuss about the environmental constrains of M. pyrifera in an ecophysiological context to improve the understanding of its aquaculture, and to contribute relevant information on the use of this species in bioremediation.

Analysis of expressed sequence tags generated from full-length enriched cDNA libraries of melon.

BACKGROUND: Melon (Cucumis melo), an economically important vegetable crop, belongs to the Cucurbitaceae family which includes several other important crops such as watermelon, cucumber, and pumpkin. It has served as a model system for sex determination and vascular biology studies. However, genomic resources currently available for melon are limited. RESULT: We constructed eleven full-length enriched and four standard cDNA libraries from fruits, flowers, leaves, roots, cotyledons, and calluses of four different melon genotypes, and generated 71,577 and 22,179 ESTs from full-length enriched and standard cDNA libraries, respectively. These ESTs, together with ~35,000 ESTs available in public domains, were assembled into 24,444 unigenes, which were extensively annotated by comparing their sequences to different protein and functional domain databases, assigning them Gene Ontology (GO) terms, and mapping them onto metabolic pathways. Comparative analysis of melon unigenes and other plant genomes revealed that 75% to 85% of melon unigenes had homologs in other dicot plants, while approximately 70% had homologs in monocot plants. The analysis also identified 6,972 gene families that were conserved across dicot and monocot plants, and 181, 1,192, and 220 gene families specific to fleshy fruit-bearing plants, the Cucurbitaceae family, and melon, respectively. Digital expression analysis identified a total of 175 tissue-specific genes, which provides a valuable gene sequence resource for future genomics and functional studies. Furthermore, we identified 4,068 simple sequence repeats (SSRs) and 3,073 single nucleotide polymorphisms (SNPs) in the melon EST collection. Finally, we obtained a total of 1,382 melon full-length transcripts through the analysis of full-length enriched cDNA clones that were sequenced from both ends. Analysis of these full-length transcripts indicated that sizes of melon 5' and 3' UTRs were similar to those of tomato, but longer than many other dicot plants. Codon usages of melon full-length transcripts were largely similar to those of Arabidopsis coding sequences. CONCLUSION: The collection of melon ESTs generated from full-length enriched and standard cDNA libraries is expected to play significant roles in annotating the melon genome. The ESTs and associated analysis results will be useful resources for gene discovery, functional analysis, marker-assisted breeding of melon and closely related species, comparative genomic studies and for gaining insights into gene expression patterns.

GRAZING ON GIANT KELP MICROSCOPIC PHASES AND THE RECRUITMENT SUCCESS OF ANNUAL POPULATIONS OF MACROCYSTIS PYRIFERA (LAMINARIALES, PHAEOPHYTA) IN SOUTHERN CHILE(1).

The giant kelp Macrocystis pyrifera (L.) C. Agardh is widely distributed in the Northern Hemisphere and Southern Hemisphere, yet it exhibits distinct population dynamics at local to regional spatial scales. Giant kelp populations are typically perennial with the potential for year-round reproduction and recruitment. In southern Chile, however, annual giant kelp populations exist and often persist entirely on secondary substrata (e.g., shells of the slipper limpet Crepipatella fecunda [Gastropoda, Calyptraeidae]) that can cover up to 90% of the rocky bottom. In these populations, the macroscopic sporophyte phase disappears annually during winter and early spring, leaving a 3-4 month period in which a persistent microscopic phase remains to support the subsequent year's recruitment. We tested the effects of a suite of grazers on the recruitment success of this critical microscopic phase at two sites in southern Chile. Field experiments indicated that the snail Tegula atra negatively impacted M. pyrifera sporophyte recruitment, but that recruitment was highest in the presence of sessile female limpets, C. fecunda. Conversely, small male C. fecunda (biofilm grazers) did not regulate kelp recruitment. Laboratory observations showed that C. fecunda males only grazed on microscopic kelp gametophytes and small (<250 µm) sporophytes, rejecting larger sporophytes, whereas T. atra grazed on all the kelp stages. Recruitment to the C. fecunda treatments far exceeded that to bare rock in the absence of grazers but was not due to the physical presence of C. fecunda shells. We concluded that the key to M. pyrifera recruitment success in southern Chile is its capacity to colonize secondary substrates provided by the slipper limpet C. fecunda.

Follicular dendritic cell sarcoma/tumor: 2 cases of a rare tumor of difficult clinical and pathological diagnosis.

The follicular dendritic cell sarcoma/tumor is a neoplasic proliferation of fusiform and ovoid cells with characteristic morphology and immunohistochemical pattern. The sarcoma/tumor term is designated due to the variability of the cytological status and, in many cases, its indeterminate clinical course. This report presents the 2 first cases seen at the Hospital General de México, OD (General Hospital of Mexico). The aim of this study is to contribute to the morphology and immunophenotype of this infrequent neoplasm, as well as discuss its differential diagnosis and clinical evolution.

Comportamiento del programa de AFP-SM en los municipios Lisa, Playa y Marianao en Ciudad de La Habana en el período 1995-2000 / Behavior of the Program of AFP-SM in the municipalities Lisa, Playa and Marianao in City of Havana in period 1995-2000 / 11

Se realizó un estudio descriptivo del comportamiento de los resultados de las determinaciones de alfafetoproteína en suero materno (AFP-SM), en el período comprendido entre los años 1995-2000, en los municipios Lisa, Playa y Marianao. Se hizo un análisis por municipios de las principales malformaciones congénitas detectadas, causas de falsos positivos, falsos negativos y porcentaje de captación de embarazadas, y su influencia en el funcionamiento del programa(AU)