Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome.

PURPOSE: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization deficits and/or autism spectrum disorder (ASD) traits, and problems with language. Specifically, a precise characterization of the speech, language, and communication (dis)abilities of people with this condition is still pending. METHOD: We used standardized tests and samples of naturalistic speech to provide a longitudinal profile of the speech, language, and communication problems of a boy with Chromosome 16p11.2 deletion syndrome and without ID or ASD. RESULTS: The proband shows impaired expressive abilities as well as problems with receptive language, dysprosody, and ASD-like communication deficits, such as impaired interactive skills, perseverative verbal behavior, overabundance of tangential responses, and lack of metapragmatic awareness and communicative use of gaze, meeting the criteria for social pragmatic communication disorder. CONCLUSIONS: Our results support the view that language and communication impairment should be regarded as one core symptom of Chromosome 16p11.2 deletion syndrome, even without a diagnosis of ASD or ID. Clinical implications of our results, with a focus on therapeutic interventions for children with 16p11.2 deletion syndrome and no ASD or ID, are also discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21561714.

Resultados funcionales del tratamiento quirúrgico percutáneo de las lesiones sutiles del complejo tarso-metatarsiano / Study of the functional results of the percutaneous surgical treatment of subtle injuries of the tarso-metatarsian complex

INTRODUCCIÓN Y OBJETIVOS: El concepto Lisfranc sutil define lesiones por baja energía del complejo articular tarso-metatarsiano (CTM) que suponen inestabilidad articular. Con frecuencia pasan desapercibidas, con secuelas a largo plazo. El objetivo es evaluar los resultados clínico-funcionales de los pacientes con lesiones CTM ligamentosas grado II-III (clasificación de Nunley y Vertullo) tratados con cirugía percutánea. MATERIAL Y MÉTODOS: Estudio retrospectivo sobre 16 pacientes intervenidos percutáneamente por lesión ligamentosa CTM. Se recogieron datos demográficos, días de demora del diagnóstico, técnica quirúrgica, reducción articular en carga (adecuada si espacio C1-M2 menor de 2 mm) y puntuación de la escala Manchester-Oxford (MOXFQ). Muestra constituida por nueve varones y siete mujeres, edad media de 43,6 años (17-71) y seguimiento medio 22 meses (12-28). RESULTADOS: El diagnóstico se demoró más de 24 horas en cuatro pacientes (3-6 días). En 11 pacientes el tratamiento consistió en reducción cerrada y síntesis percutánea con tornillos canulados desde M2 a C1 y desde C1 a C2. En tres pacientes se suplementó con agujas Kirschner en los radios laterales. Dos pacientes se trataron con único tornillo M2 a C1. No se consiguió una reducción anatómica en seis pacientes, con una media de 2,6 mm entre C1-M2 (2,1-3 mm); la puntuación media funcional MOXFQ de estos pacientes fue 41,1% (IC 95% 23,1-59,1%), peores resultados comparando con la reducción anatómica: 17,2% (IC 95% 5,7-28,7); diferencia estadísticamente significativa (p < 0,01). CONCLUSIÓN: Las lesiones sutiles del CTM son poco frecuentes y pueden pasar desapercibidas. El tratamiento quirúrgico con síntesis percutánea ofrece buenos resultados clínico-funcionales a medio plazo. La reducción anatómica es un factor determinante para el buen resultado funcional de nuestros pacientes

INTRODUCTION AND OBJECTIVES: The concept subtle Lisfranc defines low energy lesions of the tarsometatarsal joint complex (TMC) that involve joint instability. Often unnoticed, with long-term sequelae. The objective is to evaluate the clinical-functional results of patients with MTC ligament damage grade II-III (Nunley and Vertullo classification) treated with percutaneous surgery. MATERIAL AND METHODS: Retrospective study of 16 patients who underwent percutaneous surgery for MLC ligament damage. Demographic data, days of delay in diagnosis, surgical technique, joint reduction in load (adequate if C1-M2 space is less than 2 mm) and Manchester-Oxford scale (MOXFQ) score were collected. The sample consisted of nine males and seven females, mean age 43.6 years (17-71) and mean follow-up of 22 months (12-28). RESULTS: Diagnosis was delayed for more than 24 hours in four patients (3-6 days). In 11 patients the treatment consisted of closed reduction and percutaneous synthesis with cannulated screws from M2 to C1 and from C1 to C2. In three patients it was supplemented with Kirschner wires in the lateral radii. Two patients were treated with only M2 to C1 screws. An anatomical reduction was not achieved in six patients, with a mean of 2.6 mm between C1-M2 (2.1-3 mm); the mean functional MOXFQ score of these patients was 41.1% (IC 95% 23.1-59.1%), worse results compared to the anatomical reduction: 17.2% (IC 95% 5.7-28.7); statistically significant difference (p < 0.01). CONCLUSION: Subtle injuries from MTC are rare and can go unnoticed. Surgical treatment with percutaneous synthesis offers good clinical-functional results in the medium term. The anatomical reduction is a determining factor for the good functional result of our patients

No es muguet todo lo que parece / Not everything is oral candidiasis

La lengua vellosa negra (LVN) consiste en una hipertrofia papilar de la lengua que adquiere un aspecto velloso debido al cúmulo de queratina y un color negruzco por la proliferación de bacterias cromógenas. Es un proceso benigno y de etiología comúnmente desconocida, siendo la antibioterapia de amplio espectro el factor etiológico más frecuentemente implicado. Su aparición resulta anecdótica en la edad pediátrica. En este artículo se describe el caso de un lactante de dos meses de vida con lesiones negras sobre una base blanquecina en la lengua, diagnosticado en primera instancia de muguet oral. No presentó ninguna mejoría con el tratamiento antifúngico tópico. Se tomaron cultivos para bacterias y hongos, que resultaron negativos. El lactante se mantuvo asintomático en todo momento y con mejoría progresiva de las lesiones. El cuadro fue compatible con LVN. Su diagnóstico es clínico, siendo primordial hacer un diagnóstico diferencial con el muguet oral, pero también con la pigmentación oscura por ingestión de fármacos o alimentos, mácula melánica congénita y leucoplasia oral vellosa. Es un cuadro autolimitado en pocas semanas cuyo tiempo de evolución se puede acortar con el uso de queratinolíticos

Black hairy tongue is a tongue papillary hypertrophy that acquires a hairy appearance due to the keratin cluster as well as a blackish colour because of the proliferation of pigmented bacteria. It is a benign process of unknown etiology. The antibiotic use is the most commonly involved etiologic factor. Its appearance is anecdotal in pediatric age range. In this article, the case of a 2 month old breastfed baby with a black lesion on a whitish base in the tongue, firstly diagnosed with oral candidiasis, will be described. The antifungal treatment wasn't successful. The results of the bacterial and fungal cultures were negative. The patient remained asymptomatic and the lesion improved progressively. Black hairy tongue was diagnosed. Its diagnosis is clinical. It is essential to do a differential diagnosis with oral candidiasis as well as with dark pigmentation due to food or drug ingestion, congenital lingual melanotic macule and oral hairy leukoplakia. It is a self-limited case that can improve with the use of queratinolitic substances

The effects and associations of whole-apple intake on diverse cardiovascular risk factors. A narrative review.

Apples are among the world's most consumed fruits. However, while the impact of whole-apple intake on cardiovascular disease (CVD) remains unknown. This narrative review summarizes a novel integrated view of whole-apple intake, CVD risk association (through observational studies; OSs), and the effects on CVD risk factors (randomized trials; RTs). In 8 OSs, whole-apple intake was associated with a reduced risk of CVD mortality, ischemic heart disease mortality, stroke mortality, all-cause mortality, and severe abdominal aortic calcification, as well as with lower C-reactive protein (CRP) concentrations. In 8 RTs, whole-apple consumption reduced total cholesterol, low-density lipoprotein cholesterol, systolic blood pressure, pulse pressure, and plasma inflammatory cytokines, and noticeably reduced CRP, whereas it increased high-density lipoprotein cholesterol (HDLc) and improved endothelial function. Thus, consuming between 100 and 150 g/day of whole apples is associated with a lower CVD risk and decreases in blood pressure, pulse pressure, total cholesterol, low-density lipoprotein cholesterol, and inflammation status as well as with increases in HDLc and endothelial function. These results, support the regular consumption of whole apples as an aid in the prevention of CVD.

Diagnóstico y tratamiento de los osteomas osteoides del retropié: un método terapéutico para cada caso / Diagnosis and treatment of hindfoot osteoid osteoma: A therapeutic method for each case

Objetivos: 1) Recordar el diagnóstico de los osteomas osteoides (OO) del pie; y 2)definir las indicaciones de su tratamiento en el retropié. Material y método: Se han revisado un total de 5 osteomas osteoides (3 localizados en el astrágalo y 2 en el calcáneo). El diagnóstico se estableció por datos clínicos y de imagen. En todos los casos se identificó un nidus calcificado en la TC, edema óseo perilesional en la RM y captación focal gammagráfica. Se realizaron 2 termoablaciones con ondas de radiofrecuencia y 3 resecciones: 2 abiertas y una artroscópica. Se evaluaron los resultados clínicos y oncológicos al final del seguimiento. Resultados: No se registró ninguna complicación. El resultado clínico fue excelente en todos los casos. Un paciente fue tratado inicialmente con cirugía abierta y, después, por fracaso del procedimiento, mediante termoablación. No hubo recidivas después de un tiempo medio de seguimiento de 4 años y 6 meses (rango: 1-12 años). Discusión: Los OO del retropié son poco frecuentes y su diagnóstico se basa en la conjunción de datos clínicos con los característicos hallazgos de imagen. El tratamiento depende del asiento del nidus y de las relaciones de este con estructuras anatómicas próximas. Conclusiones: El diagnóstico de un OO del retropié puede asegurarse cuando los datos epidemiológicos, clínicos y de imagen son compatibles con la enfermedad. La termoablación está indicada en casos intracorticales o esponjosos en los que el nidus dista más de 1cm de la piel y de estructuras neurovasculares mayores. En el resto de casos una resección abierta o artroscópica sería de elección

Objectives: 1) to set a reminder of the diagnostic approach to osteoid osteomas (OOs) of the foot; 2) to define the indications of treatment for hindfoot OOs. Material and method: 5 OOs were checked (3 cases located in the talus and two cases in calcaneus). The diagnosis was established by clinical and imaging data. In all cases, a calcified nidus was identified on CT, perilesional bone oedema on MRI and focal scintigraphic uptake. Two cases were treated with radiofrequency ablation (RFA) and 3 cases with surgical resections: two open surgeries and one arthroscopic surgery. Clinical and oncological outcomes were evaluated at the end of the follow-up. Results: No complications were reported. The clinical outcome was excellent in all cases. One patient was initially treated with open surgery and then subsequently with RFA due to failure of the procedure. There were no recurrences after an average follow-up time of 4 years and 8 months (range, 1-12 years). Discussion: Hindfoot OOs are uncommon and their diagnosis is based on clinical data in conjunction with characteristic imaging findings. Their treatment choices depend on the location of the nidus and relationships with nearby anatomical structures. Conclusions: The diagnosis of an OO of the hindfoot can be ensured when the epidemiological, clinical and imaging data are compatible with this pathological entity. RFA is indicated for intracortical or cancellous cases in which the nidus is more than 1cm off the skin and significant neurovascular structures. For all other cases an open surgical resection or arthroscopic resection would be the first choice

Efficacy and reproducibility of lymphatics mapping technique with sentinel lymph node biopsy in melanoma.

INTRODUCTION: The study of the Sentinel Lymph Node (SLN) in Melanoma is a procedure that aims the identification of the first node to which the affected cutaneous sector drains in order to avoid unnecessary lymphadenectomies. The present study documents the frequency of identification of SLN; the relationship between positive SLN (PSLN) and recurrence, between the Breslow index (BI) and PSLN, and between BI and disease recurrence. METHOD: We analyzed the records of 148 patients with melanoma stages I and II undergoing lymphatic mapping and GC biopsy from 1999 to 2017 in a third level institution in Córdoba, Argentina. We performed preoperative lympho centellography, lymphatic mapping with combined technique and SLN biopsy. Postoperative controls were established in order to detect recurrences. RESULTS: SLN was identified in 145 patients (97.9%), being positive in 25 cases (17.2%). Recurrence was detected in 10 (8.3%) patients with negative SLN (NSLN), and in 2 (9.09%) with PSLN (p = 0.188). The median BI was 2 mm in PCG patients and 1.2 mm in GCN patients (p = 0.002). The mean BI in patients with recurrence was 2.77 mm, and 2.01 mm in those who did not show relapse (p = 0.311). CONCLUSIONS: The combined technique allows a high GC identification rate. A greater tendency to recurrence was observed in the presence of CPG. A statistically significant relationship between GCP and IB was found. The GC technique is effective and replicable in our environment.

INTRODUCCIÓN: El estudio del ganglio centinela (GC) en el melanoma maligno es un procedimiento que busca la identificación del primer ganglio al cual drena el sector cutáneo comprometido a fin de evitar linfadenectomías innecesarias. El presente estudio documenta la frecuencia de identificación del GC y la relación entre GC positivo (GCP) y recurrencia, entre el índice de Breslow (IB) y GCP, y entre el IB y la recurrencia de la enfermedad. MÉTODO: Se analizaron los registros de 148 pacientes con melanoma maligno en estadios I y II sometidos a mapeo linfático y biopsia de GC desde 1999 hasta 2017 en una institución de tercer nivel de Córdoba, Argentina. Se realizaron linfocentellografía preoperatoria, mapeo linfático con técnica combinada y biopsia de GC. Se establecieron controles posoperatorios reglados a fin de detectar recurrencias. RESULTADOS: Se identificó el GC en 145 pacientes (97.9%) y resultó positivo en 22 (17.2%). Se detectó recurrencia en 10 pacientes (8.3%) con GC negativo (GCN), y en 2 (9.09%) con GCP (p = 0.188). La mediana del IB fue de 2 mm en los pacientes con GCP y de 1.2 mm en los pacientes con GCN (p = 0.002). La media del IB en los pacientes con recurrencia fue de 2.77 mm, y en los que no mostraron recaída fue de 2.01 mm (p = 0.311). CONCLUSIONES: La técnica combinada permite una alta tasa de identificación del GC. Se observó una mayor tendencia a la recurrencia en presencia de GCP. Se comprobó una relación estadísticamente significativa entre GCP e IB. La técnica del GC es efectiva y replicable en nuestro medio.

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child, CDH1L is upregulated in the blood of the proband. ROBO1, a candidate for dyslexia, is also highly upregulated, whereas, TLE3, a target of FOXP2, is significantly downregulated. These changes might explain language, and particularly speech dysfunction in the proband.

Estudio comparativo de la reparación de la rotura de espesor completo del supraespinoso mediante técnica "hilera simple" o "suture bridge" / Comparative study of the repair of full thickness tear of the supraspinatus by means of "single row" or "suture bridge" techniques

Resumen: Objetivo: Analizar si existen diferencias clínicas entre las técnicas "hilera simple" versus "suture bridge" en la reparación artroscópica de roturas de espesor completo del supraespinoso. Material y métodos: Estudio retrospectivo de 123 pacientes con rotura de espesor completo del supraespinoso, intervenidos entre Enero de 2009 y Enero de 2013 (60 hilera simple y 63 suture bridge). La edad media en el grupo suture bridge fue 63.3 años y en el grupo hilera simple, 62.9. Predominio de mujeres (67%) en ambos grupos. En todos los casos, se reparó la hilera medial con anclajes Bio-Corkscrew y la hilera lateral con implantes Bio-PushLock (Arthrex, Naples, FL). Resultados: El valor del test de Constant medio en individuos intervenidos mediante suture bridge fue 76.7 (ponderado 96.5). En hilera simple, fue 72.4 (ponderado 92.8). Se realizó también un análisis estadístico comparativo de cada ítem del test de Constant por separado. La fuerza es el único parámetro del test de Constant estadísticamente significativo y es mayor en el grupo suture bridge. Conclusiones: La reparación de las roturas de espesor completo del supraespinoso mediante suture bridge proporciona resultados clínicos superiores a la reparación en hilera simple, sin existir diferencias estadísticamente significativas (p = 0.298).

Abstract: Purpose: The purpose of this study is to analyze if there is any difference between the arthroscopic reparation of full-thickness supraspinatus tears with simple row technique versus suture bridge technique. Material and methods: We accomplished a retrospective study of 123 patients with full-thickness supraspinatus tears between January 2009 and January 2013 in our hospital. There were 60 simple row reparations, and 63 suture bridge ones. Results: The mean age in the simple row group was 62.9, and in the suture bridge group was 63.3 years old. There were more women than men in both groups (67%). All patients were studied using the Constant test. The mean Constant test in the suture bridge group was 76.7, and in the simple row group was 72.4. We have also accomplished a statistical analysis of each Constant item. Strength was higher in the suture bridge group, with a significant statistical difference (p < 0.04). The range of movement was also greater in the suture bridge group, but was not statistically significant. Conclusions: Suture bridge technique has better clinical results than single row reparations, but the difference is not statistically significant (p = 0.298).

The influence of cochlear implants on behaviour problems in deaf children.

BACKGROUND: This study seeks to analyse the relationship between behaviour problems in deaf children and their auditory and communication development subsequent to cochlear implantation and to examine the incidence of these problems in comparison to their hearing peers. METHOD: This study uses an ex post facto prospective design with a sample of 208 Spanish children, of whom 104 were deaf subjects with cochlear implants. The first objective assesses the relationships between behaviour problems, auditory integration, and social and communication skills in the group of deaf children. The second compares the frequency and intensity of behaviour problems of the group of deaf children with their hearing peers. RESULTS: The correlation analysis showed a significant association between the internal index of behaviour problems and auditory integration and communication skills, such that deaf children with greater auditory and communication development had no behaviour problems. When comparing behaviour problems in deaf children versus their hearing peers, behavioural disturbances are significantly more frequent in the former. CONCLUSIONS: According to these findings, cochlear implants may not guarantee adequate auditory and communicative development that would normalise the behaviour of deaf children.

Peppermint (Mentha piperita) and albendazole against anisakiasis in an animal model.

OBJECTIVES: Therapy against anisakiasis requires invasive techniques to extract L3 , and an effective drug against this nematode is needed. The aim of this study was to determine the efficacy of peppermint essential oil (EO) and its main components against the parasite in comparison to albendazole, a drug currently prescribed to treat anisakiasis. METHODS: We conducted in vitro experiments and studied an experimental model simulating the human infection in Wistar rats. We used polymerase chain reaction restriction fragment length polymorphism to identify A. simplex s.s. and A. pegreffii and determine any differences in their pathogenicity and susceptibility to the treatments. RESULTS: The in vitro and in vivo experiments both showed that the larvicidal activity of peppermint EO, menthol, menthone and menthyl acetate is higher than that of albendazole. Large stomach lesions were observed in 46.7% of the albendazole-treated rats, whereas no gastrointestinal lesions were detected in those treated with peppermint EO, menthol, menthyl acetate or menthone. CONCLUSIONS: In this animal model, treatment with peppermint EO or its main components was more effective than was treatment with albendazole. Lesions were more frequently produced by A. simplex s.s. larvae than by A. pegreffii larvae.

Peripheral inflammation increases the deleterious effect of CNS inflammation on the nigrostriatal dopaminergic system.

Evidence supports the role of inflammation in the development of neurodegenerative diseases. In this work, we are interested in inflammation as a risk factor by itself and not only as a factor contributing to neurodegeneration. We tested the influence of a mild to moderate peripheral inflammation (injection of carrageenan into the paws of rats) on the degeneration of dopaminergic neurons in an animal model based on the intranigral injection of lipopolysaccharide (LPS), a potent inflammatory agent. Overall, the treatment with carrageenan increased the effect of the intranigral injection of LPS on the loss of dopaminergic neurons in the SN along with all the other parameters studied, including: serum levels of the inflammatory markers TNF-α, IL-1ß, IL-6 and C-reactive protein; activation of microglia, expression of proinflammatory cytokines, the adhesion molecule ICAM and the enzyme iNOS, loss of astrocytes and damage to the blood brain barrier (BBB). The possible implication of BBB rupture in the increased loss of dopaminergic neurons has been studied using another Parkinson's disease animal model based on the intraperitoneal injection of rotenone. In this experiment, loss of dopaminergic neurons was also strengthened by carrageenan, without affecting the BBB. In conclusion, our data show that a mild to moderate peripheral inflammation can exacerbate the degeneration of dopaminergic neurons caused by a harmful stimulus.

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

AIMS: Fabry disease (FD) is an X-chromosome-linked transmitted lysosomal storage disorder as a result of the deficient activity of enzyme α-galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Europe. METHODS: Baseline clinical data of 92 patients (41 males and 51 females) are described and analysed globally and according to gender. We compare the data of Spanish patients with those previously published from the rest of Europe patients in FOS. RESULTS: Mean age of onset of symptoms in men was 20, and 24 years in women, with a mean delay of 11 years to the diagnosis in both genders. The predominant clinical involvement in male patients was renal (69%), cardiac (66%) and neurological (60%), and for female patients, it was neurological (42%), cardiac (33%), keratopathy (30%) and nephropathy (28%). Disease severity was significantly higher in male patients. Compared to the rest of European FOS-patients, Spanish patients were diagnosed at an earlier age with a smaller proportion of disease-related involvement for most organ irrespective of gender, though not its global severity in male patients. CONCLUSIONS: We present the largest cohort of Spanish patients diagnosed with FD. The pattern of involvement (though not its global severity) could be different in Spanish patients in comparison with others from Europe. Expanding the knowledge of FD will permit early diagnosis as well as the possibility of starting the specific treatment.

[Presence, abundance and reproductive strategies of ferns in disturbed areas of Sierra Nevada, México]. / Presencia, abundancia y estrategias reproductivas de helechos en areas alteradas de la Sierra Nevada, México.

Diverse reproductive strategies shown by ferns and lycophytes allow them to colonize a variety of habitats, particularly after the incidence of natural or anthropogenic disturbances. This study assessed the presence, abundance and reproductive strategies of ferns growing in soils of temperate forests with different levels of disturbance at the Sierra Nevada mountain range in the State of Mexico. Vegetation, soil and environmental variables were recorded in 200 m2 permanent plots located in four forest stands. One-Way ANOVA and Canonical Correspondence Analysis resulted in the recognition of three landscape types defined by the degree of environmental alteration: low, moderate and severe. Also, from five soil samples collected in each stand, germination of ferns and lycophytes was induced. A positive relationship was found between the alteration degree and Cheilanthes abundance. Under a low landscape alteration regime, species richness is restricted to Cheilanthes bonariensis, C. marginata and Pellaea ternifolia subsp. ternifolia. The soil is a reservoir of spores of Cheilanthes and Pellaea ternifolia subsp. ternifolia because their spores can remain viable for different time intervals. Apogamy is the usual reproductive strategy of Cheilanthes species in disturbed ecosystems, although these species also show sexual reproduction in natural ecosystems with adequate water availability. Apogamy may be related to a shorter generation time in comparison with a low disturbed ecosystem. On the other hand, Pellaea ternifolia subsp. ternifolia only has sexual reproduction. Apogamy might be related to a faster generation in comparison with a low disturbed ecosystem.

Estudio del estado nutricional de los ancianos de Cantabria / Study of the nutritional status of elders in Cantabria

Introducción: El envejecimiento de la población representa uno de los retos más importantes desde el punto de vista biosanitario Objetivo: Valorar el estado nutricional de las personas de 65 y más años de Cantabria. Métodos: Un total de 1605 personas fueron evaluadas por medio del MNA; a) en atención primaria (59,9% en la consulta y 4,7% en domicilios) y, b) en residencias de ancianos (35,4%).Resultados: La puntuación nutricional (PN) obtenida de la suma de los ítems del MNA fue 23,4 ± 4,1 para las mujeres y 24,4 ± 4 en los varones (p < 0,001). Destaca el hecho de que el 22,3% de las personas estudiadas en residencias está malnutrida o en riesgo de malnutrición, frente al 14,2% de las que acuden a consulta, y sólo el3,3% de las estudiadas en su domicilio. La correlación entre los valores de la PN y la apreciación subjetiva del estado de nutrición mostró un valor elevado (0,65). Destacamos la correlación negativa (-0,53) entre los valores del IMC y la incidencia de lesiones cutáneas. Conclusiones: Nuestros resultados indican la importancia de la identificación de la desnutrición o su riesgo, en personas mayores, por las consecuencias negativas que presenta este estado carencial (AU)

Introduction: Population ageing is a main concern under the biosanitary point of view. Aim: To assess the nutritional status of people 65 year old and older in Cantabria (Spain) Method: A total of 1605 persons were studied by means of the MNA (Mini Nutritional Assessment); a) by primary care (59.9% in the unit, and 4.7% at home) and, b) in nursing homes (35.4%).Results: Nutritional score (NS) was 23.4 ± 4.1 for women and 24.4 ± 4 in males (p < 0.001). We emphasize the fact that 22.3% of people studied in the nursing homes were malnourished or at risk of malnutrition, compared with 14.2% of those studied at the unit, and only 3.3% of the home visited elders. The correlation between the value of the NS and the subjective estimation of nutrition status showed a high value (0.65).We emphasize the negative correlation (-0.53) between BNI value and the incidence of skin lesions. Conclusion: Our results highlight the importance of identifying malnutrition or its risk in elders in order to prevent the negative consequences of this deficiency (AU)

Presencia, abundancia y estrategias reproductivas de helechos en áreas alteradas de la Sierra Nevada, México

Presence, abundance and reproductive strategies of ferns in disturbed areas of Sierra Nevada, México. Diverse reproductive strategies shown by ferns and lycophytes allow them to colonize a variety of habitats, particularly after the incidence of natural or anthropogenic disturbances. This study assessed the presence, abundance and reproductive strategies of ferns growing in soils of temperate forests with different levels of disturbance at the Sierra Nevada mountain range in the State of Mexico. Vegetation, soil and environmental variables were recorded in 200m² permanent plots located in four forest stands. One-Way ANOVA and Canonical Correspondence Analysis resulted in the recognition of three landscape types defined by the degree of environmental alteration: low, moderate and severe. Also, from five soil samples collected in each stand, germination of ferns and lycophytes was induced. A positive relationship was found between the alteration degree and Cheilanthes abundance. Under a low landscape alteration regime, species richness is restricted to Cheilanthes bonariensis, C. marginata and Pellaea ternifolia subsp. ternifolia. The soil is a reservoir of spores of Cheilanthes and Pellaea ternifolia subsp. ternifolia because their spores can remain viable for different time intervals. Apogamy is the usual reproductive strategy of Cheilanthes species in disturbed ecosystems, although these species also show sexual reproduction in natural ecosystems with adequate water availability. Apogamy may be related to a shorter generation time in comparison with a low disturbed ecosystem. On the other hand, Pellaea ternifolia subsp. ternifolia only has sexual reproduction. Apogamy might be related to a faster generation in comparison with a low disturbed ecosystem. Rev. Biol. Trop. 59 (1): 417-433. Epub 2011 March 01.

Los helechos y licófitas tienen diversas estrategias reproductivas que las habilitan para invadir ambientes perturbados y áreas sin vegetación. En este trabajo se estudió la presencia, abundancia y estrategias reproductivas de individuos que crecen en suelos de bosques templados, en la Sierra Nevada, Estado de México. Se eligieron cuatro zonas en las que se instaló un cuadrante permanente de 200m² para cada una, con el fin de registrar variables edáficas, ambientales y de vegetación. La relación entre variables se pudo explorar con análisis de varianza y Análisis Canónico de Correspondencia dando como resultado tres paisajes con base en el grado de alteración ambiental: baja, moderada y severa. Fueron recolectadas cinco muestras de suelo en cada zona para inducir la germinación de helechos y licofitas, obteniendo resultados que revelan una relación positiva entre el grado de alteración y la abundancia de Cheilanthes. En paisajes con baja alteración, la riqueza de especies fue mayor comparada con paisajes de alteración severa, en la que la presencia de especies se redujo a Cheilanthes bonariensis, C. marginata y Pellaea ternifolia subsp. ternifolia. El suelo fue un banco de esporas de Cheilanthes y Pellaea ternifolia subsp. ternifolia ya que las esporas permanecieron viables por diferentes intervalos de tiempo. La apogamia fue la estrategia reproductiva común para especies de Cheilanthes en ecosistemas alterados, aunque estas especies tienen reproducción sexual en ecosistemas naturales con suficiente agua. Por otro lado, Pellaea ternifolia subsp. ternifolia solo presentó reproducción sexual. La apogamia puede estar relacionada con que la alternancia de generaciones se realice en menos tiempo, comparado con un ecosistema de baja alteración.

In vitro and in vivo activity of three sesquiterpenes against L(3) larvae of Anisakis type I.

In order to investigate the possible use of terpenic derivatives to treat anisakiasis caused by L(3) larvae of Anisakis, we studied the in vitro and in vivo larvicidal activity of three sesquiterpenes (nerolidol, farnesol and elemol). In vitro experiments included the histological study of larval damage and in vivo studies the measurement of myeloperoxidase activity in rat gastrointestinal tract after administration of the sesquiterpenes. In the in vitro assays, the most active compound against the L(3) larvae was nerolidol, followed by farnesol; both caused the death of all nematodes, which showed cuticle changes and intestinal wall rupture. In the in vivo assays, only 20% of infected rats treated with nerolidol or farnesol showed gastric wall lesions in comparison to 86.6% of control animals. According to these results, nerolidol and farnesol are good candidates for further research as biocidal agents against L(3) larvae of Anisakis type I.

Age adjusting severity scores for Anderson-Fabry disease.

Anderson-Fabry Disease (AFD) is a life-threatening X-linked lysosomal storage disorder, caused by a deficiency of alpha galactosidase A. The disease affects males and females, and may present in childhood or adulthood. In the absence of a biomarker of disease burden or therapeutic response, scoring systems based on clinical manifestations, have been developed. Such global scores e.g. the Mainz Severity Score Index (MSSI) are confounded by the natural history of disease that deteriorates with age, making comparisons across age groups invalid. In this study the baseline MSSI, as adapted for data collected in the Fabry Outcome Survey (FOS) database (FOS-MSSI), was calculated for 655 females and 617 males with confirmed AFD. Using an ANCOVA model, equations for the predicted FOS-MSSI based on age were derived for males and females from data where patients from the UK or outside Europe were excluded. The initially excluded patients were used for validation. The predicted severity scores of UK and non-Europe-cohorts of adult and paediatric patients were found to follow the model produced for the European cohort thereby providing validation of the methodology. Deviation of the actual FOS-MSSI from the predicted was calculated and termed the age-adjusted score. Examples of the use of the age-adjusted score in individual patients, in comparison of mutations and in investigation of early factors which may impact on later severity of Fabry disease are given. This validated age and gender adjusted scoring system allows the comparison of disease severity in different subgroups such as genotypes without age or sex as confounding factors.

Does geographical location influence the phenotype of Fabry disease in women in Europe?

This study examines the relationship between phenotype and geographical location of patients with Fabry disease in Europe. Data were taken from patients enrolled in the Fabry Outcome Survey (FOS), as of October 2007. A modified version of the Mainz Severity Score Index (FOS-MSSI) was used to classify patients according to the severity of disease. European patients were grouped depending on country of residence (northern or southern European countries). Results are presented from 762 patients enrolled in FOS in Europe (357 men and 405 women); 66% lived in northern and 34% in southern countries. Median age at onset of symptoms of Fabry disease was similar in both sexes. No differences in disease severity were seen among men, according to place of residence; however, women living in northern countries had higher severity scores (p < 0.001) than those in southern countries. In men and women, FOS-MSSI scores increased with age, irrespective of place of residence. The results suggest that expression of different phenotypic features in Fabry disease in women living in Europe may be influenced by extra-genetic or epigenetic factors. These factors might be related to dietary or environmental influences that differ according to the patient's country of residence.

El uso del laberinto en cruz elevado para medir los efectos ansiolíticos producidos por el citrus auriantum L. (petit grain) en los ratones / The use of high-maze to measure the anxiolytic effects produced by citrus L. auriantum (petit grain) in mice

La prueba del laberinto en cruz elevado fue usada para medir la ansiedad de ratones masculinos suizos albinos de 20-30g a los que fue administrada una solución salina de 0.5 ml oralmente (el grupo control negativo), diazepam intraperitonealmente en dosis de 0.5 mg/Kg. (grupo control positivo) y dosis de 500mg/Kg y 1000mg/Kg de aceite esencial de citrus auriantum, cultivado en Paraguay (Petit grain) oralmente con una cánula. Resultados: ambas dosis de Citrus auriantum mostraron un número mayor de entradas a los brazos abiertos y así también ellos aumentaron el tiempo gastado dentro de los brazos abiertos con respecto al grupo control. Con respecto al porcentaje de tiempo los brazos gastaron al aire libre se encontraron las diferencias significantes entre el diazepán (el 0,5mg/kg) y los petit grain (500mg/kg) pero no así entre el diazepán (el 0,5mg/kg) y los petit grain (1000mg/kg). Discusión: El tiempo gastado en los compartimientos diferentes del laberinto está de acuerdo con el esperado según el estudio hecho en la conducta de los ratones en el laberinto más elevado por Mirror (1997), reproduciéndose experimentalmente así el modelo del laberinto en cruz elevado con nuestra investigación. Petit grain (1000 mg/kg) sugiere un efecto ansiolítico que se refleja por el aumento del tiempo gastado en los brazos abiertos, aumento del número de entradas y el porcentaje de entradas en los brazos abiertos. Las dosis de 500mg/kg demostraron aumento en el número de entradas en los brazos abiertos en el tiempo gastado en ellos, qué también se relaciona a un posible patrón ansiolítico, pero no mostró un aumento del porcentaje de entradas en los brazos abiertos fuera del total de entradas. Los resultados obtenidos en la investigación eran los esperados según los posibles usos etnofarmacológicos del Citrus aurantium que pueden sugerir un posible efecto del Petit grain como ansiolítico.

Natural history of Fabry disease in females in the Fabry Outcome Survey.

BACKGROUND: Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of alpha-galactosidase A activity. Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females. AIMS: This study sets out to examine the clinical features and natural history of Fabry disease in further detail in a large group of female patients. METHODS: Data were obtained from 303 females enrolled in the Fabry Outcome Survey. Pain was assessed using the Brief Pain Inventory, and health related quality of life (HRQoL) was assessed using the European Quality of Life Questionnaire. A modified version of the Mainz Severity Score Index was also applied. Data on left ventricular mass (LVM) index, mean ventricular wall thickness, and glomerular filtration rate (GFR) were used to assess cardiac and renal involvement. RESULTS: The most commonly reported clinical features in females were neurological (77%) and cardiac (59%). A history of renal involvement was recorded in 40% of cases. Neurological features were the earliest to develop (mean age: 16 years), whereas cardiac (mean age: 33.5 years) and renal (mean age: 37.3 years) features developed later. LVM index increased exponentially with age. In addition, age was negatively correlated with estimated GFR and HRQoL. CONCLUSIONS: Females with Fabry disease report important age related clinical features and clinical investigation demonstrates evidence of disease progression. This study highlights the importance of careful and longitudinal assessment of female heterozygote patients with Fabry disease.