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1.
Nutrition ; 125: 112501, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-38905909

RÉSUMÉ

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.


Sujet(s)
Maladie grave , Unités de soins intensifs , Soutien nutritionnel , Équipe soignante , Humains , Maladie grave/thérapie , Femelle , Mâle , Adulte d'âge moyen , Soutien nutritionnel/méthodes , Sujet âgé , État nutritionnel , Soins de réanimation/méthodes , Soins de réanimation/statistiques et données numériques , Modèles logistiques , Durée du séjour/statistiques et données numériques
2.
Rev. cuba. med ; 60(3): e2134, 2021. tab, graf
Article de Espagnol | LILACS, CUMED | ID: biblio-1347515

RÉSUMÉ

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)


Sujet(s)
Humains , Athérosclérose/diagnostic , Facteurs de risque de maladie cardiaque , Épidémiologie Descriptive , Études transversales
3.
Diabetes Metab Res Rev ; 37(2): e3374, 2021 02.
Article de Anglais | MEDLINE | ID: mdl-32588935

RÉSUMÉ

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.


Sujet(s)
Diabète de type 2 , Télomère , Diabète de type 2/génétique , Humains , Télomère/génétique
4.
Brain Behav Immun ; 87: 218-228, 2020 07.
Article de Anglais | MEDLINE | ID: mdl-31751617

RÉSUMÉ

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.


Sujet(s)
Hippocampe , Neurogenèse , Animaux , Cognition , Immunité innée , Troubles de la mémoire , Souris , Souris de lignée C57BL
6.
Ecology ; 99(7): 1692, 2018 07.
Article de Anglais | MEDLINE | ID: mdl-29953585

RÉSUMÉ

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.


Sujet(s)
Écosystème , Forêts , Amphibiens , Animaux , Anura , Biodiversité , Brésil , Amérique du Sud
7.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 36(4): 209-213, abr. 2018. tab
Article de Anglais | IBECS | ID: ibc-176512

RÉSUMÉ

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


ANTECEDENTES: La infección por virus del papiloma humano de alto riesgo (AR-VPH) está asociada al 90% de los casos de cáncer anal; las mujeres con enfermedad cervical son un grupo de alto riesgo para desarrollar neoplasia anal. El objetivo de este estudio es describir la prevalencia y epidemiología de las infecciones anales por AR-VPH 16, 18, 45 y 58 en mujeres con citología anormal y evaluar la integridad del gen E2. MÉTODOS: Se realizó un estudio transversal con 311 muestras cervicales y 311 muestras anales de pacientes con citología anormal de 2 clínicas de colposcopia en Yucatán, México. La identificación de los VPH 16, 18, 45 y 58 se realizó con una PCR específica para los oncogenes. Para verificar la integridad del gen E2 en muestras anales se utilizó PCR en tiempo real para la amplificación de todo el gen E2 de VPH 16, 18 y 58. RESULTADOS: La presencia de AR-VPH 16, 18, 45 y/o 58 fue identificada en el 41,47% (129/311) de las muestras cervicales y en el 30,8% (96/331) de las muestras anales; el 18% de las pacientes (57/311) fueron positivas para ambas muestras, y el 11,25% (35/311) tuvieron el mismo genotipo en ambos sitios anatómicos. El gen E2 se encontró incompleto en el 82% de todas las muestras anales analizadas. La frecuencia de disrupción del genoma viral por genotipos fue: VPH 58 (97, 2%); VPH 16 (72, 4%) y VPH 18 (0%). CONCLUSIÓN: Las mujeres con enfermedad cervical están infectadas con AR-PVH en la región anal y la mayoría presentan disrupción del gen E2, lo que representa un riesgo para desarrollar cáncer anal


Sujet(s)
Humains , Femelle , Adolescent , Jeune adulte , Adulte , Adulte d'âge moyen , Sujet âgé , Infections à papillomavirus/épidémiologie , Maladies du col utérin/virologie , Papillomaviridae/génétique , Canal anal/virologie , Maladies du col utérin/épidémiologie , Infections à papillomavirus/virologie , Études transversales , Facteurs de risque , Prévalence , Réaction de polymérisation en chaîne , Génotype
8.
Enferm Infecc Microbiol Clin (Engl Ed) ; 36(4): 209-213, 2018 Apr.
Article de Anglais, Espagnol | MEDLINE | ID: mdl-28069334

RÉSUMÉ

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.


Sujet(s)
Maladies de l'anus/épidémiologie , Maladies de l'anus/virologie , Col de l'utérus/anatomopathologie , Gènes viraux/génétique , Papillomaviridae/génétique , Adolescent , Adulte , Sujet âgé , Études transversales , Femelle , Humains , Adulte d'âge moyen , Prévalence , Facteurs de risque , Jeune adulte
9.
PLoS One ; 12(12): e0190528, 2017.
Article de Anglais | MEDLINE | ID: mdl-29284058

RÉSUMÉ

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.


Sujet(s)
Inflammation/métabolisme , Insulinorésistance , Syndrome métabolique X/métabolisme , Obésité/métabolisme , Adulte , Maladie chronique , Femelle , Humains , Mâle , Jeune adulte
10.
Rev. Soc. Argent. Diabetes ; 51(4): 129-136, Diciembre 2017.
Article de Espagnol | LILACS | ID: biblio-909809

RÉSUMÉ

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


Sujet(s)
Diabète de type 2 , Facteur nucléaire hépatocytaire HNF-1 bêta , Glucokinase
11.
Mem Inst Oswaldo Cruz ; 111(12): 770-773, 2016 Dec.
Article de Anglais | MEDLINE | ID: mdl-27812600

RÉSUMÉ

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.


Sujet(s)
Carcinome épidermoïde/virologie , Protéines de liaison à l'ADN/génétique , Papillomavirus humain de type 16/génétique , Protéines des oncogènes viraux/génétique , Infections à papillomavirus/virologie , Dysplasie du col utérin/virologie , Tumeurs du col de l'utérus/virologie , Études transversales , ADN viral/génétique , Femelle , Humains , Infections à papillomavirus/complications , RT-PCR
12.
Rev. cuba. med. mil ; 45(3): 372-377, jul.-set. 2016. ilus
Article de Espagnol | LILACS, CUMED | ID: biblio-960556

RÉSUMÉ

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)


Sujet(s)
Humains , Femelle , Adulte , Adulte d'âge moyen , Tumeurs du sein/imagerie diagnostique , Imagerie d'élasticité tissulaire/méthodes
13.
Vet Parasitol ; 224: 60-64, 2016 Jul 15.
Article de Anglais | MEDLINE | ID: mdl-27270391

RÉSUMÉ

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.


Sujet(s)
Animaux de zoo/parasitologie , Colubridae/parasitologie , Nematoda/physiologie , Nématodoses/médecine vétérinaire , Animaux , Argentine , Issue fatale , Spécificité d'hôte , Nematoda/classification , Nematoda/ultrastructure , Nématodoses/parasitologie , Nématodoses/anatomopathologie
14.
Diabetes Res Clin Pract ; 118: 38-43, 2016 Aug.
Article de Anglais | MEDLINE | ID: mdl-27289208

RÉSUMÉ

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.


Sujet(s)
ADN/génétique , Diabète de type 2/génétique , Glucokinase/génétique , Mutation , Adolescent , Argentine/épidémiologie , Analyse de mutations d'ADN/méthodes , Diabète de type 2/enzymologie , Diabète de type 2/épidémiologie , Femelle , Glucokinase/métabolisme , Humains , Mâle , Pedigree , Phénotype , Prévalence , Études rétrospectives
15.
Rev. cuba. med. mil ; 44(4)oct.-dic. 2015.
Article de Espagnol | CUMED | ID: cum-66903

RÉSUMÉ

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(AU)


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 regi¥n 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(AU)


Sujet(s)
Humains , Mâle , Adulte , Thrombose carotidienne/diagnostic , Échocardiographie-doppler/méthodes , Spectroscopie par résonance magnétique/méthodes , Occlusion coronarienne/complications , Angiographie/effets indésirables
16.
Rev. cuba. med. mil ; 44(4): 446-451, oct.-dic. 2015.
Article de Espagnol | LILACS, CUMED | ID: lil-777062

RÉSUMÉ

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.


Sujet(s)
Humains , Mâle , Angiographie/effets indésirables , Spectroscopie par résonance magnétique/méthodes , Échocardiographie-doppler/méthodes , Thrombose carotidienne/diagnostic , Occlusion coronarienne/complications
18.
Rev. cuba. med. mil ; 43(3)jul.-set. 2014.
Article de Espagnol | CUMED | ID: cum-67078

RÉSUMÉ

Paciente de 22 años de edad con antecedentes de salud. Hacía un mes se le había practicado una hernioplastia inguinal izquierda, y aproximadamente dos semanas después, comenzó a presentar aumento de volumen y dolor en el dorso del pene, tanto al tacto como con la erección. Al examen físico se constató, que la vena dorsal superficial del pene estaba aumentada de volumen, de color rojizo y dolorosa a la palpación. En el ultrasonido doppler-color peniano, se comprobó el engrosamiento de la pared de dicha vena, trombosis de esta, disminución del flujo sanguíneo, así como dolor al contacto del transductor. Se le indicó reposo sexual, tratamiento con antiinflamatorios no esteroideos y corticoides orales, además de iontoforesis local con pomada de heparina sódica. El paciente evolucionó satisfactoriamente, con la desaparición del dolor y la recanalización de la vena dorsal del pene. La aparición de la tromboflebitis de Mondor del pene, con posterioridad a una hernioplastia inguinal, es excepcional. Su sospecha clínica más la confirmación con el ultrasonido doppler-color, son pilares básicos para el diagnóstico de certeza. El tratamiento conservador ofrece óptimos resultados(AU)


A male patient aged 22 years with a history of health problems. One month before, he had undergone left inguinal hernioplasty, but two weeks after surgery, he began suffering pain in the back of the penis together with increased volume, both on touch and at erect state. The physical examination revealed that the superficial dorsal vein of the penis was more swollen, red-colored and painful on palpation. Doppler-color ultrasound of the penis confirmed thickening of the vein wall, thrombosis, lower blood flow and patient's feeling of pain when the transducer touched it. He was prescribed non-steroidal anti-inflammatory drugs plus oral corticosteroids, cessation of sexual intercourse, in addition to local ionphoresis with sodium heparin ointment. The patient's progression was satisfactory since pain disappeared and the dorsal vein of the penis was re-canalized. Mondor's thrombophlebitis of the penis rarely occurs after inguinal hernioplasty. Clinical suspicion plus Doppler-color US confirmation are basic pillars for a correct diagnosis. The conservative treatment offers optimal outcomes(AU)


Sujet(s)
Humains , Mâle , Jeune adulte , Hernie inguinale/diagnostic , Thrombophlébite/diagnostic , Échographie-doppler couleur/méthodes , Maladies du pénis/complications , Balanite/complications , Anti-inflammatoires non stéroïdiens/usage thérapeutique , Hormones corticosurrénaliennes/usage thérapeutique , Traitements préservant les organes/effets indésirables
19.
Rev. cuba. med. mil ; 43(3): 386-393, jul.-set. 2014. Ilus
Article de Espagnol | LILACS, CUMED | ID: lil-731010

RÉSUMÉ

Paciente de 22 años de edad con antecedentes de salud. Hacía un mes se le había practicado una hernioplastia inguinal izquierda, y aproximadamente dos semanas después, comenzó a presentar aumento de volumen y dolor en el dorso del pene, tanto al tacto como con la erección. Al examen físico se constató, que la vena dorsal superficial del pene estaba aumentada de volumen, de color rojizo y dolorosa a la palpación. En el ultrasonido doppler-color peniano, se comprobó el engrosamiento de la pared de dicha vena, trombosis de esta, disminución del flujo sanguíneo, así como dolor al contacto del transductor. Se le indicó reposo sexual, tratamiento con antiinflamatorios no esteroideos y corticoides orales, además de iontoforesis local con pomada de heparina sódica. El paciente evolucionó satisfactoriamente, con la desaparición del dolor y la recanalización de la vena dorsal del pene. La aparición de la tromboflebitis de Mondor del pene, con posterioridad a una hernioplastia inguinal, es excepcional. Su sospecha clínica más la confirmación con el ultrasonido doppler-color, son pilares básicos para el diagnóstico de certeza. El tratamiento conservador ofrece óptimos resultados.


A male patient aged 22 years with a history of health problems. One month before, he had undergone left inguinal hernioplasty, but two weeks after surgery, he began suffering pain in the back of the penis together with increased volume, both on touch and at erect state. The physical examination revealed that the superficial dorsal vein of the penis was more swollen, red-colored and painful on palpation. Doppler-color ultrasound of the penis confirmed thickening of the vein wall, thrombosis, lower blood flow and patient's feeling of pain when the transducer touched it. He was prescribed non-steroidal anti-inflammatory drugs plus oral corticosteroids, cessation of sexual intercourse, in addition to local ionphoresis with sodium heparin ointment. The patient's progression was satisfactory since pain disappeared and the dorsal vein of the penis was re-canalized. Mondor's thrombophlebitis of the penis rarely occurs after inguinal hernioplasty. Clinical suspicion plus Doppler-color US confirmation are basic pillars for a correct diagnosis. The conservative treatment offers optimal outcomes.


Sujet(s)
Humains , Mâle , Jeune adulte , Maladies du pénis/complications , Thrombophlébite/diagnostic , Balanite/complications , Anti-inflammatoires non stéroïdiens/usage thérapeutique , Échographie-doppler couleur/méthodes , Traitements préservant les organes/effets indésirables , Hernie inguinale/diagnostic
20.
Rev. Soc. Argent. Diabetes ; 48(3): 130-138, Sept. 2014.
Article de Espagnol | LILACS | ID: lil-771494

RÉSUMÉ

El término MODY (Maturity Onset Diabetes of the Young) proviene de la antigua clasificación de la DM que la subdividía en aquellas que comenzaban en la juventud de las que lo hacían en la edad adulta. En la actualidad, se las encuadra dentro de aquellos cuadros caracterizados por “defectos genéticos en la función de la célula beta”. Es una forma monogénica de la enfermedad cuyo denominador común es la hiposecreción de insulina como factor desencadenante primario. Actualmente se han identificado 13 subtipos de MODY. Si bien MODY representa aproximadamente el 1-2% de los pacientes con DM, se estima que un gran porcentaje de los casos se encuentran sin diagnosticar. En cuanto a la frecuencia relativa, MODY 2 y MODY 3 representan alrededor del 60-80% de los casos, y MODY 1 el 10% de los mismos. En general, los pacientes con MODY se caracterizan por tener: 1) DM de comienzo en la edad joven, en general menores de 25 años; 2) fuerte influencia familiar; 3) sin estigmas de insulinorresistencia; 4) insulinodependencia; 5) ausencia de autoanticuerpos relacionados con DM autoinmune. El diagnóstico de MODY trae aparejado implicancias pronósticas, terapéuticas y sobre consejo genético. Aquellos pacientes con mutación en glucoquinasa (MODY2) habitualmente no desarrollan complicaciones crónicas tanto micro como macrovasculares y en general no requieren tratamiento farmacológico, mientras que aquellos con mutaciones en HNF-1α (MODY3) tienen tendencia a complicaciones microvasculares y poseen la característica de presentar hiperrespuestas a dosis bajas de sulfonilureas, incluso en algunas ocasiones presentan hipoglucemias severas.


Sujet(s)
Diabète , Glucokinase
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