Cut-off points for isometric handgrip and low limb explosive strength in relation to indicators of overweight/obesity in people with intellectual disabilities: analysis by age groups.

BACKGROUND: The prevalence of overweight/obesity has been increasing globally and in people with Intellectual Disabilities (IDs), this problem is exacerbated even more, which added to a low physical condition that contributes to the deterioration of functionality and increases the risk of developing chronic diseases in the course of life. Therefore, the aim of this study was to establish cut-off points for levels of isometric handgrip and low limb explosive strength in children, adolescents and adults, which identify overweight/obesity in people with IDs and their respective associations. METHODS: The sample was made up of 131 individuals with IDs, belonging to four special and community educational centres in the city of Santiago, Chile. Body mass index (BMI) and waist-to-height ratio (WHR) were used as indicators of overweight/obesity. Handgrip strength was used as a measure of isometric strength, and countermovement jump was used as a measure of low limb explosive strength. For the comparison of variables by age group, the analysis of Ancova, Kruskal-Wallis and chi-square tests were used. The total area under the receiver operating characteristic curve of isometric handgrip and low limb explosive strength was identified as an indicator of overweight/obesity according to age groups. A logistic regression model was used to quantify the effect that strength categories below the cut-off point have on the risk of overweight and obesity. RESULTS: Significant differences were observed between the age groups for body weight, height, BMI and WHR, as well as in the levels of absolute handgrip strength and vertical jump with countermovement (P ≤ 0.05). Children showed the lowest cut-off points for absolute and relative strength. The adolescent group showed the highest cut-off points for relative strength and countermovement jump and adults showed the highest value for absolute strength as indicators of overweight/obesity. Different associations between cut-off points with BMI and WHR were found. CONCLUSIONS: Adolescents showed the highest cut-off point for relative strength and countermovement jump, and adults showed the highest value for absolute strength, according to overweight/obesity indicators (BMI and WHR). It is suggested to adjust resistance training programmes according to age categories for the prevention of overweight/obesity in people with IDs.

Migrations, admixture and genetic diversity in Central Argentinian Patagonia: analysis of autosomal Alu polymorphisms / Migraciones, mestizaje y diversidad genética en la Patagonia Central Argentina: análisis de polimorfismos autosómicos Alu

This study aimed to analyze autosomal Alu insertions in three localities from Patagonia Argentina belonging to the Andes region and the coast of the Chubut province. Knowledge of the genetic diversity of these populations, along with the genealogical data, will contribute to better understand historical information, differential migration process and bio-demographic composition of the Central Patagonia region. In order to achieve this objective, 16 autosomal Alu insertion polymorphisms were genotyped: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM, and CD4. Our results showed that the Central Patagonia region presents a complex continental genetic admixture with marked Native American roots (39% ± 1.2), Eurasian (56% ± 1.73) and, to a lesser extent, African (5% ± 1.7). The genetic proximity of the Patagonian samples in relation to groups from Europe and Northern Africa, but with a displacement towards the native communities, constitutes a clear indicator of the differential admixture process that took place in different regions of Argentina. Moreover, genetic differences were observed between Patagonian localities and Bahía Blanca (Central region of Argentina). These observations warned us that population genetic constitution analysis cannot be approached without bearing in mind the regional particularities, which are the result of the different historical, migratory, social-economic and demographic processes that occurs in the country.

Este estudio tiene como objetivo el análisis de las inserciones autosómicas Alu en tres localidades de la Patagonia argentina localizadas en la región andina y costera de la provincia de Chubut. El conocimiento de la diversidad genética de estas poblaciones, junto con los datos genealógicos, contribuirán a una mejor comprensión de la información histórica, los procesos migratorios diferenciales y la composición bio-demográfica de la región central Patagónica. Para alcanzar este objetivo se analizaron 16 polimorfismos autosómicos de inserción Alu: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM y CD4. Nuestros resultados mostraron que la región central Patagónica presenta una mezcla genética continental compleja de marcadas raíces nativo americanas 39% (± 1.2), eurasiáticas 56% (± 1.73) y, en menor medida, africanas 5% (± 1.7). La proximidad genética de las muestras patagónicas a los grupos de Europa y del Norte de África, pero con un mayor desplazamiento hacia las comunidades nativas, constituye un claro indicador del proceso de mezcla diferencial que tuvo lugar en las distintas regiones de la Argentina. Por otra parte, las diferencias genéticas observadas entre las localidades de Patagonia y Bahía Blanca (región central de la Argentina), nos advierten que no puede analizarse la constitución genética de las poblaciones sin tener en cuenta las particularidades regionales, que son el resultado de los diferentes procesos históricos, migratorios, socio-económicos y demográficos que ocurrieron en el interior del país.

Multimodality management of a locally advanced primary oesophageal melanoma with radical surgery and adjuvant chemoimmunoradiotherapy.

We present the case of a 46-year-old woman diagnosed with a primary oesophageal melanoma (PEM), who was treated with radical surgery followed by combined chemoimmunotherapy (interferon, carboplatin, dacarbazine and external radiotherapy) and who achieved a complete response after this treatment. PEMs are rare malignancies, with less than 300 cases described in the literature. The main differential diagnosis is with metastases of skin or ocular malignant melanomas. They are usually diagnosed at advanced stages and prognosis is typically poor. The main treatment modality should be radical surgery. The role of adjuvant treatment is uncertain, although some long responses have been seen with the use of chemotherapy or immunotherapy alongside surgery.

Pancreatitis aguda puerperal tras cesárea / Acute pancreatitis post cesarean section

La pancreatitis aguda es una complicación poco frecuente en el embarazo, pero que presenta una gran morbimortalidad, siendo su prevalencia mayor en el tercer trimestre y puerperio inmediato. Presentamos un caso de pancreatitis aguda post cesárea en una paciente sin antecedentes, a cuyo diagnóstico se llegó por el apoyo de pruebas diagnósticas de imagen. El tratamiento fue llevado por un equipo multidisciplinario que logró la remisión completa de la enfermedad.

Acute pancreatitis is an uncommon complication during pregnancy which is associated with great morbimortality and its prevalence increases during the third trimester and early puerperium. We report a case of acute pancreatitis following to caesarean section in a patient with an unremarkable medical history. Diagnosis was done by means of imaging techniques and its treatment was carried out by a multidisciplinar/ team.

How many populations set foot through the Patagonian door? Genetic composition of the current population of Bahía Blanca (Argentina) based on data from 19 Alu polymorphisms.

The city of Bahía Blanca occupies a strategic place in Argentina south of the Pampean region in the north-east corner of the Patagonia. Since 1828, this city has been the historical and political border between Amerindian lands in the south, and the lands of European colonists. Nowadays, Bahía Blanca is an urban population mainly composed by descendents of immigrants from Spain and other European countries with apparently low admixture with Amerindians. In view of the unexpectedly high Amerindian admixture levels (about 46.7%) suggested by mtDNA data, and protein markers (19.5%), we analyzed a set of 19 Alu polymorphisms (18 autosomal, 1 of Chromosome Y) in a well-documented genealogical sample from Bahía Blanca. The genotyped sample was made up of 119 unrelated healthy individuals whose birth place and grandparent origins were fully documented. According to available genealogical records, the total sample has been subdivided into two groups: Bahía Blanca Original (64 individuals with all 4 gandparents born in Argentina) and Bahía Blanca Mix (55 individuals with one to three grandparents born out of Argentina). Allele frequencies and gene diversity values in Bahía Blanca fit well into the European ranges. Population relationships have been tested for 8 Alu markers, whose variation has been described in several Amerindian and European samples. Reynolds genetic distances underline the significant genetic similarity of Bahía Blanca to Europeans (mean distance 0.044) and their differentiation from Amerindians (0.146). Interestingly enough, when the general sample is divided, Bahía Blanca Original appears slightly closer to Amerindians (0.127) in contrast to Bahía Blanca Mix (0.161). Furthermore, the genetic relationships depicted through a principal components analysis emphasize the relative similarity of Bahía Blanca Original to Amerindians. A thorough knowledge of the sample origins has allowed us to make a subtle distinction of the genetic composition of Bahía Blanca.

Serum protein markers in the Piaroa Indians of Amazonia (Venezuela).

A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for the following serum protein polymorphisms: haptoglobin (HP), group-specific component subtypes (GC), orosomucoid (ORM), third component of complement (C3), transferrin C subtypes (TF) and alpha 1-antitrypsin subtypes (PI). The gene frequencies in the whole sample were: HP1 = 0.821; GC1S = 0.698; GC1F = 0.058; GC2 = 0.244; ORMS = 0.434; C3S = 0.699; C3F = 0.289; C3var = 0.012; TFC1 = 0.955; PIM1 = 0.467; PIM2 = 0.004; PIM3 = 0.529. The studied Piaroa sample came from three different communities: Gavilan, Paria and Alto Carinagua. The distribution of GC, C3 and HP polymorphisms was heterogeneous within the three groups. All the examined serum protein markers were polymorphic, in contrast to some enzymatic markers (ADA, DIA, 6PGD, AK) previously studied, which were shown to be monomorphic in the Piaroa. The results were compared with data from other populations living in the same territory.