MODY patients exhibit shorter telomere length than non-diabetic subjects.

BACKGROUND: Given the increasing evidence supporting the association between telomere shortening and diabetes, the aim of the present work was to establish whether MODY patients suffer a reduction in telomere lenght (TL) due to oxidative stress produced by chronic hyperglycemia, despite not presenting insulin resistance or inflammation. METHODS: We analysed clinical and biochemical parameters in 35 MODY2 and 12 MODY3 patients compared with 48 control subjects. The absolute telomere length (aTL) of peripheral blood leukocytes was measured using the quantitative polymerase chain reaction (qPCR). RESULTS: A significant negative correlation was observed between aTL and age in the whole population, among MODY patients and in each subtype studied, MODY2 and MODY3, which allowed us to validate the method. We found, for the first time, that MODY patients have shorter aTL with respect to non-diabetic controls (6.49 ± 3.31 kbp vs 11.13 ± 7.82 kbp, p = .006). However, no differences were found between MODY2 and MODY3. In addition, aTL showed a negative correlation with duration of the disease and fasting plasma glucose (FPG) levels in MODY patients in general and also with HbA1c in MODY2 patients in particular. CONCLUSIONS: Both MODY2 and MODY3 types present telomere shortening, which, at least partly, responds to HbA1c and FPG levels. These findings suggest comparable mechanisms underlying the attrition of TL. Taken together, our results on aTL in MODY patients may provide a parameter relatively easy and inexpensive to quantify in order to measure the impact of high glucose levels and potentially carry out antidiabetic treatment with stricter targets.

Mold inhalation causes innate immune activation, neural, cognitive and emotional dysfunction.

Individuals living or working in moldy buildings complain of a variety of health problems including pain, fatigue, increased anxiety, depression, and cognitive deficits. The ability of mold to cause such symptoms is controversial since no published research has examined the effects of controlled mold exposure on brain function or proposed a plausible mechanism of action. Patient symptoms following mold exposure are indistinguishable from those caused by innate immune activation following bacterial or viral exposure. We tested the hypothesis that repeated, quantified doses of both toxic and nontoxic mold stimuli would cause innate immune activation with concomitant neural effects and cognitive, emotional, and behavioral symptoms. We intranasally administered either 1) intact, toxic Stachybotrys spores; 2) extracted, nontoxic Stachybotrys spores; or 3) saline vehicle to mice. As predicted, intact spores increased interleukin-1ß immunoreactivity in the hippocampus. Both spore types decreased neurogenesis and caused striking contextual memory deficits in young mice, while decreasing pain thresholds and enhancing auditory-cued memory in older mice. Nontoxic spores also increased anxiety-like behavior. Levels of hippocampal immune activation correlated with decreased neurogenesis, contextual memory deficits, and/or enhanced auditory-cued fear memory. Innate-immune activation may explain how both toxic mold and nontoxic mold skeletal elements caused cognitive and emotional dysfunction.

ATLANTIC AMPHIBIANS: a data set of amphibian communities from the Atlantic Forests of South America.

Amphibians are among the most threatened vertebrates in the world and this is also true for those inhabiting the Atlantic Forest hotspot, living in ecosystems that are highly degraded and threatened by anthropogenic activities. We present a data set containing information about amphibian communities sampled throughout the Atlantic Forest Biome in South America. The data were extracted from 389 bibliographic references (articles, books, theses, and dissertations) representing inventories of amphibian communities from 1940 to 2017. The data set includes 17,619 records of 528 species with taxonomic certainty, from 1,163 study sites. Of all the records, 14,450 (82%) were classified using the criterion of endemism; of those, 7,787 (44%) were considered endemic and 6,663 (38%) were not. Historically, multiple sampling methods were used to survey amphibians, the most representative methods being active surveys (82.1%), surveys at breeding sites (20%), pitfall traps (15.3%), and occasional encounters (14.5%). Species richness averaged 15.2 ± 11.3 (mean ± SD), ranging from 1 to 80 species per site. We found a low dominance in the communities, with 10 species occurring in about 26% of communities: Physalaemus cuvieri (4.1%), Dendropsophus minutus (3.8%), Boana faber (3.1%), Scinax fuscovarius (2.8%), Leptodactylus latrans (2.7%), Leptodactylus fuscus (2.6%), Boana albopunctata (2.3%), Dendropsophus nanus (1.6%), Rhinella ornata (1.6%), and Leptodactylus mystacinus (1.6%). This data set represents a major effort to compile inventories of amphibian communities for the Neotropical region, filling a large gap in the data on the Atlantic Forest hotspot. We hope this data set can be used as a credible tool in the proposal of new studies on amphibian sampling and even in the development of conservation planning for these taxa. This information also has great relevance for macroecological studies, being foundational for both conservation and restoration strategies in this biodiversity hotspot. No copyright or proprietary restrictions are associated with the use of this data set. Please cite this data paper when the data are used in publications or teaching events.

Analysis of E2 gene integrity in HPV16 and HPV58 viruses isolated from women with cervical pathology.

Integration of human papillomavirus (HPV) DNA into human cells accompanied by the disruption of the viral genome has been described as a prerequisite for cancer development. This study aimed to investigate E2 gene integrity of HPV16 and HPV58 viruses isolated from infected women with cervical lesions. Forty-two HPV16- and 31 HPV58-positive samples were analysed. E2 integrity was assumed when all fragments covering the E2 gene were amplified with specific polymerase chain reaction primers. Overall, in 59% of the samples, at least one fragment was not amplified in HPV16- (57%) and HPV58-positive samples (61%). Samples from high-grade squamous intraepithelial lesions had the highest frequency of E2 gene disruptions (73%), followed by samples from low-grade squamous intraepithelial lesions (63%) and, finally, samples from invasive cervical cancer (35%). Association between the integrity status of the E2 gene, and lesion grade was assessed by the chi-squared test applied to the combined set of viruses (p = 0.6555) or to populations of the same virus type (HPV58, p = 0.3101; HPV16, p = 0.3024). In conclusion, in this study, no association was found between the presence of E2 gene disruptions and the grade of cervical lesions caused by HPV16 and HPV58.

Nutritional support team intervention in surgical ICUs and its effect on nutrition delivery and quality in critically ill patients.

RATIONAL: Critically ill surgical patients pose one of the greatest challenges in achieving nutritional goals. Several published papers have demonstrated clear benefits when nutrition support (NS) is managed by a multidisciplinary nutrition support team (NST). We hypothesized that implementing a NST in a surgical intensive care unit (ICU) would increase the number of patients achieving their nutritional goals. MATERIAL AND METHOD: Multicenter "BEFORE & AFTER" study. In the BEFORE phase, an audit of the previous state of NS was conducted in three ICUs without a NST. INTERVENTION: Implementation of a NST and protocol. In the AFTER phase, a new audit of NS was conducted. Continuous variables (presented as mean ± SD or median Q1-Q3) were tested using the t-test and Mann-Whitney U test. Categorical variables (presented as frequencies and percentages) were assessed using the chi-square test. A binomial logistic regression model was performed, with independent variables introduced using a stepwise forward method. A difference was considered to be significant with a two-sided P-value <0.05. Statistical analysis was conducted using IBM-SPSS 26. RESULTS: A total of 83 patients were included in the BEFORE phase, and 85 in the AFTER phase. The latter group showed a higher frequency of nutritional risk and malnutrition (SGA B+C odds ratio 2.314, 95% CI 1.164-4.600). Laparoscopy was more frequently utilized as a surgical technique in the AFTER phase. No differences were observed in ICU and hospital LOS or 90 days' survival rates. Two variables remained independent factors to predict NS achievement: NST implementation (odds ratio 3.582, 95% CI 1.733-7.404), and surgical technique (odds ratio 3.231, 95% CI 1.312-7.959). CONCLUSION: NST positively impacts the chance of achieving NS goals in critically ill surgical patients.

Anisodamine production from natural sources: seedlings and hairy root cultures of Argentinean and Colombian Brugmansia candida plants.

The tropane alkaloid anisodamine ( 2) is obtained by 6 beta-hydroxylation of hyoscyamine ( 1). The application of this alkaloid in medicine is gaining attention due to the wide range of therapeutic applications described in addition to its anticholinergic activity. In this work, the production of anisodamine ( 2) by IN VITRO cultures of BRUGMANSIA CANDIDA (Argentinean and Colombian samples) was studied. This alkaloid was estimated in different organs of IN VITRO-germinated seedlings as well as in hairy roots obtained from seedlings from both sources. Colombian roots exhibited the highest content of tropane alkaloids, with anisodamine ( 2) being the main alkaloid measured. In the leaves, the main alkaloid was scopolamine ( 3) and no significant differences were observed between Argentinean and Colombian leaves. The tropane alkaloid content in Argentinean hairy roots was significantly higher than in Colombian ones. Also, in the Argentinean samples the main alkaloid detected was anisodamine ( 2). Argentinean and Colombian B. CANDIDA seedlings and hairy roots appear to be a promising system for the production of anisodamine ( 2).

Prevalence of anal infection due to high-risk human papillomavirus and analysis of E2 gene integrity among women with cervical abnormalities.

BACKGROUND: High-risk human papillomaviruses (HR-HPV) infection has been associated with 90% of anal cancer cases. Women with abnormal cytology are a high-risk group to develop anal neoplasia. The aim of this study is to describe the prevalence and epidemiology of HR-HPV 16, 18, 45, and 58 anal infections in women with cervical abnormalities, as well as to assess E2 gene integrity. METHODS: A cross-sectional study was performed on 311 cervical and 311 anal samples from patients with abnormal cytology in two colposcopy clinics in Yucatan, Mexico. A specific PCR for oncogenes was performed in order to identify HVP 16, 18, 45 and 58. Real time PCR was used to amplify the whole HPV 16, 18, and 58 E2 gene to verify its integrity in anal samples. RESULTS: High risk HPV 16, 18, 58, and/or 45 were found in 41.47% (129/311) of cervical samples, and in 30.8% (96/331) of anal samples, with 18% (57/311) of the patients being positive in both samples. The same genotypes in both anatomical sites were observed in 11.25% (35/311). The E2 gene was disrupted in 82% of all tested samples. The frequency of genome disruption viral integration in anal samples by genotype was: HPV 58 (97.2%); HPV 16 (72.4%), and HPV 18 (0%). CONCLUSION: Women with cervical disease have HR-HPV anal infections, and most of them have the E2 gene disrupted, which represents a risk to develop anal cancer.

Metabolically healthy obese individuals present similar chronic inflammation level but less insulin-resistance than obese individuals with metabolic syndrome.

The Metabolic Syndrome (MetS) is a cluster of cardiometabolic risk factors, usually accompanied by the presence of insulin resistance (IR) and a systemic subclinical inflammation state. Metabolically healthy obese (MHO) individuals seem to be protected against cardiometabolic complications. The aim of this work was to characterize phenotypically the low-grade inflammation and the IR in MHO individuals in comparison to obese individuals with MetS and control non obese. We studied two different populations: 940 individuals from the general population of Buenos Aires and 518 individuals from the general population of Venado Tuerto; grouped in three groups: metabolically healthy non-obese individuals (MHNO), MHO and obese individuals with MetS (MSO). Inflammation was measured by the levels of hs-CRP (high-sensitivity C reactive protein), and we found that MHO presented an increase in inflammation when compared with MHNO (Buenos Aires: p<0.001; Venado Tuerto: p<0.001), but they did not differ from MSO. To evaluate IR we analyzed the HOMA (Homoeostatic Model Assessment) values, and we found differences between MHO and MSO (Buenos Aires: p<0.001; Venado Tuerto: p<0.001), but not between MHNO and MHO. In conclusion, MHO group would be defined as a subgroup of obese individuals with an intermediate phenotype between MHNO and MSO individuals considering HOMA, hs-CRP and central obesity.

Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes.

BACKGROUND: Maturity-onset diabetes of the young 2 (MODY2) is a form of diabetes that is clinically characterized by early age at onset and mild hyperglycemia, and has a low risk of late complications. It is often underdiagnosed due to its mild symptoms. To date, over 600 different GCK/MODY2 mutations have been reported. Despite only a few de novo mutations having been described, recent studies have reported the detection of a higher frequency of this kind of mutation. Therefore, de novo mutations could be more frequent than previously described. Even though common recommendations regarding the diagnosis of monogenic diabetes include the existence of a strong family history of diabetes, here we describe the study of mutations in two families with a symptomatic individual with clear clinical features of MODY2 but without any family history of diabetes. METHODS: Genetic diagnosis in a group of participants with MODY2 characteristics was carried out by direct sequencing of coding regions of the GCK gene and analysis of mutations found using bioinformatics tools. RESULTS: We found two de novo mutations, one of them novel, constituting 14.29% of all the participants who were phenotyped as MODY2. CONCLUSIONS: The number of mutations in GCK/MODY2 or even other MODY-related genes is undoubtedly underestimated, as accepted criteria for performing genetic tests include family history of the pathology. These cases illustrate the value of analyzing the GCK gene in patients with clinical features of MODY2, even in the absence of family history of the condition as it is essential for establishing the correct treatment.

First report of parasitism by Hexametra boddaertii (Nematoda: Ascaridae) in Oxyrhopus guibei (Serpentes: Colubridae).

The current study summarizes the postmortem examination of a specimen of Oxyrhopus guibei (Serpentes, Colubridae) collected in Iguazu National Park (Argentina), and found deceased a week following arrival to the serpentarium of the National Institute of Tropical Medicine (Argentina). Although the snake appeared to be in good health, a necropsy performed following its death identified the presence of a large number of roundworms in the coelomic cavity, with indications of peritonitis and serosal adherence. Additional observations from the necropsy revealed small calcifications in the mesothelium of the coelomic cavity; solid and expressive content in the gallbladder; massive gastrointestinal obstruction due to nematodes; and lung edema and congestion. Histopathological analyses of lung sections also showed proliferative heterophilic and histiocytic pneumonia. Parasites isolated from both the intestine and coelomic cavity were identified as Hexametra boddaertii by a combination of light and scanning electron microscopic examination. Results from this necropsy identify O. guibei as a new host for H. boddaertii, and is the first report of a natural infection by Hexametra in Argentina. Since Hexametra parasites may contribute to several pathological conditions in humans, and with the recent availability of O. guibei specimens through the illegal pet trade, it is necessary to consider the possibility of zoonotic helminth transmission of Hexametra from snake to human.

Aterosclerosis subclínica en trabajadores de una institución de salud / Subclinical atherosclerosis in health institution workers

Introducción: La aterosclerosis es la causa principal de enfermedad coronaria. Su presencia en la red vascular se manifiesta desde edades muy tempranas. Se asegura que está presente desde la vida intrauterina y se va haciendo cada vez mayor con el paso de los años, tanto por la acción del envejecimiento como por la presencia de otros factores que lo aceleran y perpetúan. La aterosclerosis subclínica es un término que debe ser usado para expresar que existe un grado de evidencia de lesión de la pared arterial sin expresión clínica. Objetivo: Identificar la presencia de aterosclerosis subclínica y su relación con factores de riesgo aterogénico. Método: Se realizó un estudio descriptivo de tipo transversal en trabajadores del Centro Internacional de Salud CIS La Pradera entre enero y diciembre de 2019. Resultados: Se detectó aterosclerosis subclínica en 129 pacientes (32,7 por ciento). Se asoció con la hipertensión, la diabetes mellitus, la dislipidemia y el hábito de fumar. Conclusiones: La enfermedad subclínica estuvo presente en los trabajadores de la salud, aparentemente sanos y jóvenes, que tuvieron al menos un factor de riesgo para la enfermedad aterosclerótica(AU)

Introduction: Atherosclerosis is the main cause of coronary disease. Its presence in the vascular network is shown from very early age. It is ensured that it is present from intrauterine life and becomes larger and larger over the years, both due to the action of aging and the presence of other factors that accelerate and perpetuate it. Subclinical atherosclerosis is a term that should be used to express that there is a degree of evidence of arterial wall injury without clinical appearance. Objective: To identify the presence of subclinical atherosclerosis and its relationship with atherogenic risk factors. Method: A descriptive cross-sectional study was carried out in workers of La Pradera International Health Center from January to December 2019. Results: Subclinical atherosclerosis was detected in 129 subjects (32.7 percent). It was associated with hypertension, diabetes mellitus, dyslipidemia, and smoking. Conclusions: Subclinical disease was present in health workers, apparently healthy and young, who had at least one risk factor for atherosclerotic disease(AU)

Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA).

Autoimmune diabetes is an organ specific and multifactorial disorder with a classical onset as insulin dependent diabetes mellitus (IDDM) and with another form of onset as latent autoimmune diabetes in adults (LADA), which has a slower onset and a later progress to insulin dependency as a result of the beta cells destruction. The cytotoxic T lymphocyte-antigen 4 (CTLA4) has been identified as a susceptible marker of the disease; it is considered a down regulator of T cell function, playing a key role in autoimmunity. We analyzed CTLA4 codon 49 A/G polymorphism in 123 IDDM patients, 63 LADA patients and 168 healthy non-diabetic control individuals. The frequency of the heterozygous A/G genotype in LADA patients was significantly increased compared to IDDM patients (55.6 vs. 39.8%, p = 0.0415). There was no statistical significant difference in the distribution of the A/G dimorphism between autoimmune diabetes patients (LADA or IDDM) and non-diabetic control individuals. HLA DQ region is responsible for the genetic susceptibility to autoimmune diabetes in IDDM patients in about 50% and it has a lower effect in genetic susceptibility in LADA patients. Several other genetic loci are needed to develop autoimmune diabetes in adult patients. Therefore, LADA may be the result of a combined minor risk loci effect in a major risk haplotype.

[HLA DQB1 genotyping in latent autoimmune diabetes of adults (LADA)]. / Genotipificacion del gen HLA DQB1 en diabetes autoinmune del adulto (LADA)

Autoimmune diabetes is a complex, multifactorial disease caused by the interaction of genetic and environmental factors. This autoimmune diabetes is commonly manifested in childhood and adolescence with a fast onset (type 1 diabetes, IDDM) and it can occur in adult patients with a slow onset with delayed insulin requirement, (latent autoimmune diabetes in adults, LADA ). Autoimmune diabetes has strong class II HLA association mainly with DQB gene which constitutes the first susceptibility locus. However, association with the 5'INS- VNTR and CTLA-4 genes has been established. In this study, we analysed the polimorphic allele frequencies of DQB HLA gene in 63 LADA patients, 70 IDDM and 79 control subjects. The HLA DQB1 alleles typing was detected through Olerup SSP DQ kit using sequence specific primers. We observed a positive association of *0201-*0302 and *0201-*0201 genotypes in both types of diabetic patients compared to the control group (p < 0.05). Moreover, *0201-*0302 genotype was higher in IDDM than in LADA (p < 0.05). On the other hand, the *0602 protective allele analysis showed a high prevalence in the normal group compared to the diabetic population. In Argentina, the most frequent allele of susceptibility in LADA and IDDM patients was the *0201. Summing up, the finding of an increase in the *0201 allele, both in allelic and genotypic frequencies, allows the characterisation of our population of patients, LADA and IDDM, unlike other populations, in which the most frequent allele is *0302.

A novel mutation in exon 5 of the glucokinase gene in an Argentinian family with maturity onset diabetes of the young.

Maturity onset diabetes of the young (MODY) is caused by mutations in at least six different genes, including the glucokinase gene (MODY 2) and genes encoding the tissue-specific transcription factors (MODY 1 and MODY 3-6). To determine the presence of mutations in MODY 2 in four members of a family who have the clinical characteristics of MODY, we performed polymerase chain reaction and single strand conformation polymorphism screening, followed by DNA sequencing. We found a novel mutation which consisted of the deletion of a cytosine in the position 2 of the exon 5 codon 168. This mutation produced a frame shift which determines a stop codon at position 203 in exon 6. The identification of a mutation in glucokinase gene and transcription factor genes in patients with early-onset diabetes confirms the diagnosis of MODY and has important implications for clinical management.

Variable number of tandem repeats of the insulin gene determines susceptibility to latent autoimmune diabetes in adults.

BACKGROUND: The different clinical presentations of latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus may be the result of susceptibility genes in determining the mode of onset. We analyzed the 5' polymorphisms of the insulin mini-satellite region (INS), a variable number of tandem repeats (VNTR) [repeat units; RU]. We evaluated the association of the different INS-VNTR alleles in patient susceptibility to LADA autoimmune diabetes. To our knowledge, this constitutes the first study of this kind performed in a Caucasian population. METHODS: From an group of 160 Argentinean patients previously characterized as having LADA, we selected 44 patients who presented with humoral autoimmunity for genotyping and compared them to 88 patients with type 1 diabetes and 138 healthy individuals. The INS-VNTR allele classes were determined by Southern blotting (class I: 21-44RU; class III: 138-159RU). Subjects with class I alleles were further studied using PCR amplification to determine the exact length of the alleles (short 1S: 22-37RU; medium 1M: 38-41RU; large 1L: 42-43RU). Allelic and genotype frequencies were estimated by chi(2) tests for independence with 2 x 2 contingency tables and the relative risks (RR) were determined using GraphPad InStat software. RESULTS: We observed differential associations among the class I alleles when comparing patients with LADA (80.6%) and type 1 diabetes (81.3%) with the controls (70%; p < 0.005). This increase was largely due to the high frequency of the 1S/S genotype (63.6% LADA vs 37% controls, with a p-value of 0.0019 [p1]; 53.4% type 1 diabetes vs 37% controls, with a p-value of 0.0149 [p2]). Remarkably, all LADA patients genotyped as class I homozygous had the shorter (S) class I allele (100%). Differences in the overall 1S distribution were observed: in LADA the 94.4% of the alleles were equal to or smaller than 35RU, while in patients with type 1 diabetes it was 78.3% and in controls 74.1%. Moreover, the relative risks associated with the 1S/S genotype for patients with LADA showed a substantial increase with respect to those with type 1 diabetes (52%) when we compare them to the controls (1S/S LADA/control, 2.282 [RR1] vs type 1 diabetes/control, 1.497 [RR2]). CONCLUSION: The presence of the 1S allele could be considered a risk factor in LADA patients, as previously reported for type 1 diabetes. The class I INS-VNTR allele in LADA increases genetic susceptibility to disease development.

Clinical and genetic characteristics in patients with Huntington's Disease from Argentina.

UNLABELLED: Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG)(n) in the HTT gene. There is scarce data about the disease in Argentina. OBJECTIVE: To describe the demographic, clinical and molecular data in patients with HD from Argentina. PATIENTS AND METHODS: 59 HD patients were recruited at our department. Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). RESULTS: 32 women and 27 men were diagnosed with a mean age of 45.7 ± 16.2 years and a mean age at onset of 35.8 ± 14.8 years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r = -0.58, r(2) = 33.6, Pearson's correlation coefficient p = 0.0008. Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. CONCLUSIONS: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.

Presentaciones poco frecuentes de diabetes tipo MODY: el ejemplo de MODY tipo 5 y las formas de novo de MODY tipo 2 / Infrequent presentations of MODY diabetes: the example of MODY type 5 and de novo forms of MODY type 2

La diabetes tipo MODY se produce por alteraciones en genes relacionados con el metabolismo de la célula beta pancreática. El tipo 2 es uno de los más frecuentes y se produce por alteraciones en el gen GCK (glucoquinasa) y el tipo 5 es mucho menos frecuente y se produce por alteraciones en el gen HNF1B (factor nuclear hepático 1B). Se presentan con herencia autosómica dominante, aunque se ha descripto la presencia de mutaciones de novo. El objetivo del trabajo fue buscar mutaciones en el gen GCK en pacientes sin antecedentes familiares pero con características clínicas de MODY2 y mutaciones en el gen HNF1B en pacientes con características clínicas de MODY5 con y sin antecedentes familiares. Para ello a partir de ADN se realizó la secuenciación de cada gen por el método de Sanger o por secuenciación de nueva generación. Como resultado, se hallaron mutaciones en el gen GCK en cuatro pacientes sin antecedentes familiares y mutaciones en el gen del HNF1B en dos pacientes, uno de ellos sin antecedentes familiares. Como conclusión puede afirmarse que las mutaciones de novo en el gen de la GCK son más frecuentes de lo descripto, por lo cual se recomienda el estudio del gen en pacientes con características compatibles aún sin antecedentes familiares. También es importante el estudio del gen HNF1B en pacientes con características típicas ya que deben tratarse no sólo por sus alteraciones renales sino por la diabetes presente; de esta manera se logra un correcto diagnóstico para instaurar el tratamiento más adecuado

HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina.

INTRODUCTION: There are at least six subtypes of Maturity Onset Diabetes of the Young (MODY) with distinctive genetic causes. MODY 3 is caused by mutations in HNF1A gene, an insulin transcription factor, so mutations in this gene are associated with impaired insulin secretion. MODY 3 prevalence differs according to the population analyzed, but it is one of the most frequent subtypes. Therefore, our aims in this work were to find mutations present in the HNF1A gene and provide information on their prevalence. MATERIAL AND METHODS: Mutations screening was done in a group of 80 unrelated patients (average age 17.1 years) selected by clinical characterization of MODY, by SSCP electrophoresis followed by sequenciation. RESULTS: We found eight mutations, of which six were novel and four sequence variants, which were all novel. Therefore the prevalence of MODY 3 in this group was 10%. Compared clinical data between the non-MODY 3 patients and the MODY 3 diagnosed patients did not show any significant difference. DISCUSSION: Eight patients were diagnosed as MODY 3 and new data about the prevalence of that subtype is provided. Our results contribute to reveal novel mutations, providing new data about the prevalence of that subtype.

Utilidad de la elastografía en cáncer de mama a propósito de dos casos / Elastography Usefulness in Breast Cancer In Relation To Two Cases

La ecografía es una técnica fundamental en el estudio morfológico y anatómico de la mama. En los últimos años, se ha visto complementada desde un punto de vista más funcional con la elastografía. Esta modalidad diagnóstica añade información estructural a las propiedades morfológicas que muestra la ecografía y permite alcanzar mejores resultados de especificidad, pues las lesiones malignas muestran dureza significativamente superiores a las lesiones benignas. La elastografía ha venido a fortalecer el diagnóstico en etapas tempranas de las neoplasias malignas. Este hecho repercute en un incremento notable en el índice de curación y en el decrecimiento de la mortalidad por esta causa. El objetivo es mostrar el valor de la elastografía en el diagnóstico de la neoplasia de mama, al ser una nueva herramienta que permite discriminar o corroborar el diagnóstico ecográfico, y evitar al paciente la biopsia innecesaria(AU)

Ultrasound is a fundamental technique in breast morphological and anatomical study. In recent years, elastography has supplemented it from a functional point of view. This diagnostic modality adds structural information to the morphological properties that ultrasound shows and it allows us to achieve better results of specificity, since malignant lesions show significantly higher hardness than benign lesions. Elastography has come to strengthen the diagnosis in early stages of malignancy. This fact that affects a significant increase in the cure rate and the decrease in mortality from this cause. The purpose is to show the value of elastography in breast neoplasia diagnosis, being a new tool to discriminate or confirm the ultrasound diagnosis, and avoid unnecessary biopsy(AU)

Utilidad de la ecografía Doppler en el diagnóstico de la trombosis carotidea traumática / Usefulness of Doppler echography for the diagnosis of traumatic carotid thrombosis

Los traumatismos del sistema arterial carotideo son raros y tienen alta mortalidad. Se presenta un caso de trombosis de la arteria carótida interna derecha por una herida por arma de fuego a nivel del cuello con el objetivo de evidenciar en la práctica médica la utilidad de la ecografía Doppler para el diagnóstico temprano de estas lesiones, a pesar de reportarse en la literatura la angiografía, la resonancia magnética nuclear y la angiorresonancia como estudios de elección. Con este caso se pudo afirmar que la trombosis carotidea traumática tiene una incidencia baja, pero no descartable en los traumas de la región cervical. Por esta causa, son frecuentes las complicaciones neurológicas dadas por la oclusión arterial y la ecografía Doppler resultó muy útil en el diagnóstico temprano del paciente.

Carotid artery system traumas are rare and show high mortality rates. The case of right internal carotid artery thrombosis caused by a gunshot injury in the neck was presented in this report to show evidence of the usefulness of Doppler echography in the medical practice for the early diagnosis of these lesions in spite of the fact that literature highlights angiography, nuclear magnetic resonance and angioresonance as the imaging studies of choice. This case confirmed that carotid thrombosis due to trauma has low incidence but it can not be ignored in the cervical región traumas. For these reasons, the neurological complications stemming from artery occlusion are frequent and Doppler echography turned to be very useful for the early diagnosis of this illness in a patient.