A three-year multifaceted intervention to prevent obesity in children of Mexican-heritage.

BACKGROUND: Obesity and overweight have increased dramatically in the United States over the last decades. The complexity of interrelated causal factors that result in obesity needs to be addressed within the cultural dynamic of sub-populations. In this study, we sought to estimate the effects of a multifaceted, community-based intervention on body mass index (BMI) among Mexican-heritage children. METHODS: Niños Sanos, Familia Sana (Healthy Children, Healthy Family) was a quasi-experimental intervention study designed to reduce the rate of BMI growth among Mexican-heritage children in California's Central Valley. Two rural communities were matched based on demographic and environmental characteristics and were assigned as the intervention or comparison community. The three-year intervention included parent workshops on nutrition and physical activity; school-based nutrition lessons and enhanced physical education program for children; and a monthly voucher for fruits and vegetables. Eligible children were between 3 and 8 years old at baseline. Intent-to-treat analyses were estimated using linear mixed-effect models with random intercepts. We ran a series of models for each gender where predictors were fixed except interactions between age groups and obesity status at baseline with intervention to determine the magnitude of impact on BMI. RESULTS: At baseline, mean (SD) BMI z-score (zBMI) was 0.97 (0.98) in the intervention group (n = 387) and 0.98 (1.02) in the comparison group (n = 313) (NS). The intervention was significantly associated with log-transformed BMI (ß = 0.04 (0.02), P = 0.03) and zBMI (ß = 0.25 (0.12), P = 0.04) among boys and log-transformed BMI among obese girls (ß = - 0.04 (0.02), P = 0.04). The intervention was significantly and inversely associated with BMI in obese boys and girls across all age groups and normal weight boys in the oldest group (over 6 years) relative to their counterparts in the comparison community. CONCLUSIONS: A community-based, multifaceted intervention was effective at slowing the rate of BMI growth among Mexican-heritage children. Our findings suggest that practitioners should consider strategies that address gender disparities and work with a variety of stakeholders to target childhood obesity. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT01900613 . Registered 16th July 2013.

A Web-Based Application to Improve Data Collection in an Interventional Study Targeting Childhood Obesity: Pre-Post Analysis.

BACKGROUND: Although participatory action research (PAR) studies have proliferated in recent years, the development of technological resources to manage these types of projects has not kept pace. Few studies show how Web-based applications can be used to efficiently manage the data collection process. OBJECTIVE: This study described the development, use, and impact of a Web-based application to facilitate data management in Niños Sanos, Familia Sana (Healthy Children, Healthy Family), an interventional multifaceted PAR field study. METHODS: We described the transformation of the data management process and evaluated the impact of the application in terms of time efficiency of data collection and engagement of community-based data collectors. We defined time efficiency as the total number of days it took to collect 3 main surveys, per year of data collection. The engagement of data collectors was assessed based on qualitative reports. RESULTS: The amount of time it took to perform a round of data collection was reduced after implementation of the field team application (between 382 and 383 days and 198 and 233 days). Secondary data were also collected in a tighter time frame around collection of the primary outcome, and communication among data collectors, the field staff, and the research team was streamlined. In focus groups, community-based data collectors reported feeling more empowered and engaged in the data collection process after implementation of the application. CONCLUSIONS: A Web-based management application was successful in improving data collection time efficiency and engagement among data collectors.

Purchases Made with a Fruit and Vegetable Voucher in a Rural Mexican-Heritage Community.

Recent recommendations for US food assistance programs are intended to ensure foods provided through these programs help households consume a varied, healthful diet. From a policy viewpoint, it is important to examine the impact of economic incentives to purchase healthy foods across subpopulations, particularly low-income Latinos, who comprise 40% of the WIC program nationwide. Our aim was to determine how rural, Mexican-heritage households (N = 227) residing in California's Central Valley distributed fruit and vegetable (F/V) voucher spending among F/V subgroups and specific items over a 1-year period. Households contained at least one child who was between 3 and 8 years old at baseline and had a parent of Mexican-heritage. F/V voucher purchase data were collected via grocery store scanners. Expenditure and frequency shares of subgroups and individual items were analyzed to determine purchasing habits. Fruits were the most commonly purchased subgroup, representing 55% of spending and 45% of frequency. Households allocated low percentages of their voucher to dark green and red/orange vegetables-7 and 9% respectively. Approximately 20% of purchases were good potassium sources and 30% of purchases were good fiber sources. Many of the most frequently purchased items were of cultural significance (tomatillo, chayote, chili/jalapeño pepper, and Mexican squash). This study suggests that economic incentives can contribute important nutrients to participants' diets and targeted vouchers provided by food assistance programs should continue to include culturally important foods and be aware of the cultural values of their participants.

Prevalence and Perception of Childhood Obesity in California's Farmworker Communities.

In California's central valley, childhood obesity rates are above the national average. The majority of families living in the rural, agricultural communities of this region are immigrant of Mexican heritage, and face numerous social and environmental challenges. Demographic and anthropometric data were collected from a population of Mexican-heritage children 3-8 years (N = 609) and families (N = 466) living in two central valley communities. Overall, 45 % of children and 82 % of mothers were classified as overweight or obese. Multivariable analyses indicated that mother's BMI and acculturation level were positively associated with child BMI z-score. Most children classified as overweight or obese (92 % and 53 %, respectively) were perceived as having 'normal' weight by their mothers. Childhood obesity remains a major public health issue in Mexican-heritage, central valley communities. Our model indicates that mother's BMI is predictor of child obesity, and parents tend to underestimate their child's weight status. These findings highlight a need for family-targeted and culturally-tailored approaches to address relevant perceptions of obesity and risk factors in these communities.

Social and Environmental Determinants of Child Physical Activity in a Rural Mexican-Origin Community.

California's rural agricultural communities face an increased burden of obesity and metabolic disease. The present objective is to define the social and environmental influences to child obesity and physical activity within Mexican-origin communities in California's Central Valley. A range of data (anthropometric, socioeconomic, demographic, cultural and environmental) were collected on more than 650 children enrolled in Niños Sanos, Familia Sana. Physical activity data were gathered from a subsample of children 4-7 years of age (n = 148) via accelerometer. Cross sectional analyses explored the relationship between BMI and physical activity and the influence of numerous social and environmental variables. In this sample 45 % of children were determined to be overweight or obese. Boys had a higher daily average moderate-to-vigorous physical activity than girls (p = 0.008). Chi square analyses showed weight status was associated with activity level in girls (p = 0.03) but not boys. Multivariate regression revealed several social and environmental indicators influenced BMI and physical activity (p = 0.004). In this population of school-age children of Mexican-origin, girls may benefit more from targeted efforts to increase MVPA. Family and community support systems may also boost child participation in physical activities.

Solid-state fermentation as a potential technique for esterase/lipase production by halophilic archaea.

Halophilic archaea are extremophiles, adapted to high-salt environments, showing a big biotechnological potential as enzyme, lipids and pigments producers. Four inert supports (perlite, vermiculite, polyurethane foam and glass fiber) were employed for solid-state fermentation (SSF) of the halophilic archaeon Natronococcus sp. TC6 to investigate biomass and esterase production. A very low esterase activity and high water activity were observed when perlite, vermiculite and polyurethane were used as supports. When glass fiber was employed, an important moisture loss was observed (8.6%). Moreover, moisture retention was improved by mixing polyurethane and glass fiber, resulting in maximal biomass and esterase production. Three halophilic archaea: Natronococcus sp. TC6, Halobacterium sp. NRC-1 and Haloarcula marismortui were cultured by submerged fermentation (SmF) and by SSF; an improvement of 1.3- to 6.2-fold was observed in the biomass and esterase production when SSF was used. Growth was not homogeneous in the mixture, but was predominant in the glass fiber thus was probably because the glass fiber provides a holder to the cells, while the polyurethane acts as an impregnation medium reservoir. To the best of our knowledge, this work is the first report on haloarchaea cultivation by SSF aiming biomass and esterase/lipase activity production.

Correlates of food patterns in young Latino children at high risk of obesity.

OBJECTIVE: The present paper examines the influence of age and gender on food patterns of Latino children. DESIGN: Data are from baseline of a 5-year, quasi-experimental obesity prevention study: Niños Sanos, Familia Sana (NSFS; Healthy Children, Healthy Families). In 2012, the researchers interviewed Latino parents, using a thirty-item questionnaire to ask about their children's food consumption and feeding practices. Statistical tests included t tests and ANCOVA. SETTING: Rural communities in California's Central Valley, USA. SUBJECTS: Two hundred and seventeen parents (87-89% born in Mexico) and their children (aged 2-8 years). RESULTS: Fifty-one per cent of the children were overweight or obese (≥85th percentile of BMI for age and gender). Mean BMI Z-scores were not significantly different in boys (1·10 (SD 1·07)) and girls (0·92 (SD 1·04); P=0·12). In bivariate analysis, children aged 2-4 years consumed fast and convenience foods less often (P=0·04) and WIC (Supplemental Nutrition Program for Women, Infants, and Children)-allowable foods more often than children aged 5-8 years (P=0·01). In ANCOVA, neither age nor gender was significantly related to food patterns. Mother's acculturation level was positively related to children's consumption of fast and convenience foods (P=0·0002) and negatively related to consumption of WIC foods (P=0·01). Providing role modelling and structure in scheduling meals and snacks had a positive effect on the vegetable pattern (P=0·0007), whereas meal skipping was associated with more frequent fast and convenience food consumption (P=0·04). CONCLUSIONS: Acculturation and child feeding practices jointly influence food patterns in Latino immigrant children and indicate a need for interventions that maintain diet quality as children transition to school.

Monitoring lipase/esterase activity by stopped flow in a sequential injection analysis system using p-nitrophenyl butyrate.

Lipases and esterases are biocatalysts used at the laboratory and industrial level. To obtain the maximum yield in a bioprocess, it is important to measure key variables, such as enzymatic activity. The conventional method for monitoring hydrolytic activity is to take out a sample from the bioreactor to be analyzed off-line at the laboratory. The disadvantage of this approach is the long time required to recover the information from the process, hindering the possibility to develop control systems. New strategies to monitor lipase/esterase activity are necessary. In this context and in the first approach, we proposed a lab-made sequential injection analysis system to analyze off-line samples from shake flasks. Lipase/esterase activity was determined using p-nitrophenyl butyrate as the substrate. The sequential injection analysis allowed us to measure the hydrolytic activity from a sample without dilution in a linear range from 0.05-1.60 U/mL, with the capability to reach sample dilutions up to 1000 times, a sampling frequency of five samples/h, with a kinetic reaction of 5 min and a relative standard deviation of 8.75%. The results are promising to monitor lipase/esterase activity in real time, in which optimization and control strategies can be designed.

Primary urinary bladder haemangiosarcoma in a captive saddleback tamarin (Saguinus fuscicollis).

BACKGROUND: A captive adult male saddleback tamarin, Saguinus fuscicollis, was lethargic, unresponsive to its surrounding and died before medical care. METHODS: Necroscopic, histopathological and immunohistochemical examinations were performed. RESULTS: Neoplastic spindle cells of the urinary bladder were positive for antifactor VIII antibody. CONCLUSION: A primary urinary bladder haemangiosarcoma was diagnosed, and it has not been previously reported in non-human primates.

Lower plasma sodium is associated with a microinflammatory state among patients with advanced chronic kidney disease.

BACKGROUND/AIMS: Lower serum sodium levels have been associated with increased mortality among patients with chronic kidney disease (CKD). Our aim was to analyze the independent factors associated with lower sodium levels among nondialysis patients with advanced CKD and to evaluate the evolution of these patients in comparison to those with higher plasma sodium over a 1-year period. METHODS: We included 72 patients with CKD stages 4 and 5 without clinically evident cardiopathy or liver disease. Bioelectrical impedance and echocardiography were performed to analyze the possible relation between plasma sodium and volume status and subclinical left ventricular (LV) dysfunction. During follow-up, we compared the evolution of patients with lower baseline plasma sodium (low quartile: <138 mEq/l) with that of patients with higher levels over a 1-year period. RESULTS: At baseline, the independent predictors of lower plasma sodium were C-reactive protein (CRP; OR 0.96; 95% CI 0.91-0.99) and body mass index (OR 0.89; 95% CI 0.78-0.99). An inverse correlation between plasma sodium and CRP was observed (r = -0.32; p = 0.01). Plasma sodium did not correlate with extracellular water and was not different between patients with or without echocardiographic data of LV dysfunction (p = 0.7). During follow-up, patients with lower sodium at baseline showed persistently lower sodium values (p = 0.04), higher CRP (p = 0.05), lower serum albumin (p < 0.01) and higher erythropoietin-stimulating agent resistance index (p = 0.05). CONCLUSIONS: Our results suggest an association between lower plasma sodium and a microinflammatory state among patients with advanced CKD. Inflammation could be an underlying confounding factor explaining the increased mortality in these patients.

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report]. / Síndrome de microdeleción 20q11.2: ampliación del espectro fenotípico. Reporte de un caso.

Background: 20q11.2 microdeletion syndrome [ORPHA: 444051] is a rare disease, since 16 patients have been reported in literature worldwide. Prevalence ratio is < 1:1,000,000 individuals. Haploinsufficiency on GDF5, SAMHD1 and EPB41L1 genes is important due to phenotypic manifestations in patients. Clinical features can be grouped into craniofacial abnormalities, limb abnormalities, neurological and perinatal disorders. The aim of this report is to present a clinical case of 20q11.21-q11.23 microdeletion, to describe clinical manifestations found, to compare them with features reported in literature, and to contribute to the phenotypic spectrum expansion. Clinical case: 5-year-old female patient who presented hypotonia, psychomotor retardation, microcephaly, facial dysmorphia, pectus excavatum, thoracolumbar scoliosis, right hip subluxation, camptodactyly and clinodactyly. Karyotype test was normal and SNP microarray test reported deletion of chromosomal region 20q11.21-q11.23. Conclusions: It was presented a 20q11.2 microdeletion syndrome confirmed case that shares the features reported in literature, in addition to previously unreported features, such as blepharoptosis, pectus excavatum, scoliosis and hip dysplasia. Interdisciplinary management is important to improve the patient's condition (in her 3 spheres), in order to achieve her best possible health status.

Introducción: el síndrome de microdeleción 20q11.2 [ORPHA: 444051] es una enfermedad rara, pues se han reportado 16 casos a nivel mundial. Su prevalencia se estima en < 1:1,000,000 de nacidos vivos. Induce haploinsuficiencia en los genes GDF5, SAMHD1 y EPB41L1, los cuales son de importancia clínica por las manifestaciones fenotípicas. Se caracteriza por anomalías craneofaciales, anomalías de extremidades, alteraciones neurológicas y perinatales. El objetivo de este reporte es presentar un caso de microdeleción 20q11.21-q11.23, describir las manifestaciones clínicas encontradas, compararlo con lo reportado en la literatura y colaborar en la ampliación del espectro fenotípico. Caso clínico: paciente del sexo femenino de 5 años que presentó hipotonía, retraso psicomotor, microcefalia, dismorfias faciales, pectus excavatum, escoliosis toracolumbar, subluxación de cadera derecha, camptodactilia y clinodactilia. La prueba de cariotipo se reportó sin alteraciones y el ensayo de microarreglo de polimorfismos de un nucleótido (SNP) reportó deleción de la región cromosómica 20q11.21-q11.23. Conclusiones: se presentó un caso confirmado de síndrome de microdeleción 20q11.2 que comparte las características reportadas en la literatura, además de características no reportadas previamente, como ptosis palpebral, pectus excavatum, escoliosis y displasia del desarrollo de cadera. Es importante el manejo interdisciplinario para buscar mejoría en la condición de la paciente (en sus 3 esferas), a fin de alcanzar el mejor estado de salud posible.

Modulation of Gut Microbiota, and Morphometry, Blood Profiles and performance of Broiler Chickens Supplemented with Piper aduncum, Morinda citrifolia, and Artocarpus altilis leaves Ethanolic Extracts.

Bioactive plants such as P. aduncum, M. citrifolia, and A. altilis might improve intestinal health as an alternative to antibiotic growth promoters. The objective of this study was to determine the effect of the ethanolic extracts (EEs) of these plants on the intestinal health of broiler chickens. Cobb 500 chickens (n = 352) were distributed into eight treatments with four replicates and 11 chickens each. T1 received a base diet, and T2 received a base diet with 0.005% zinc bacitracin. T3, T5, and T7 were supplemented with 0.005% of P. aduncum, M. citrifolia, and A. altilis EE in the diet while T4, T6, and T8 with 0.01% of the extract. The EEs were supplemented with drinking water from 1 to 26 days of age. The following parameters were evaluated: hematological profiles at 28 days of age, blood metabolites profiles at 14, 21, and 28 days; Escherichia coli, Staphylococcus aureus, and Lactobacillus sp. abundance in the ileum mucosa and content at 21 and 28 days, and histomorphometry of the duodenum, jejunum, and ileum mucosa at 14, 21, and 28 d. Final weight (FW), weight gain (WG), feed intake (FI), and feed conversion rate (FCR) were evaluated at seven, 21, and 33 days of age. M. citrifolia and A. altilis EE at 0.01% increased blood glucose levels at 21 and 28 days of age, respectively, and P. aduncum and M. citrifolia EE at 0.01% increased triglycerides at 28 days of age; in addition, this EE did not have any effect on the AST and ALT profiles. The depths of the Lieberkühn crypts and the villi length to the crypt's depth ratio increased with age on supplementation with 0.01% M. citrifolia and A. altilis EE at 21 days of age (p < 0.05). In addition, the depth of the crypts increased at 28 days of age (p < 0.05) in chickens supplemented with 0.01% A. altilis EE. The 0.01% M. citrifolia EE in diet decreased in the Staphylococcus aureus population in the ileal microbiota (p < 0.05). The FW and WG during the fattening and in the three stages overall increased, and the FCR decreased; however, the FI and the carcass yield did not change in the broiler chickens supplemented with 0.01% M. citrifolia EE (p < 0.05). Conclusively, the M. citrifolia EE at 0.01% of the diet improved intestinal health and thus the performance indices of the broiler chickens and did not have a detrimental effect on any of the parameters evaluated, so it is postulated as a potential alternative to AGP in poultry.

A U.S. Pharmacopeia (USP) overview of Pan American botanicals used in dietary supplements and herbal medicines.

The United States Pharmacopeial Convention (USP) is a nonprofit, scientific, standard-setting organization, and world leader in establishing quality, purity, and testing standards for medicines, foods, and dietary supplements. USP quality standards are used in more than 140 countries and are legally recognized by more than 40 countries. Currently, there is renewed interest in herbal medicines globally, and health policies are being implemented worldwide for the use of complementary and traditional medicine. In response, USP has developed a robust body of monographs that can be used to guide industry and regulators in ensuring the quality and safety of botanical ingredients used in dietary supplements and herbal medicines. Throughout the Pan American regions, there is a strong tradition of using botanicals as herbal medicines and, as in other regions, a growing desire for botanical dietary supplements. This underscores the need for public quality standards to ensure quality, reduce the flow of substandard and adulterated products, and ensure public health and safety. In April 2022, USP launched the Pan America Botanical Dietary Supplements and Herbal Medicines Expert Panel, with experts representing 12 different countries. The Expert Panel's work focuses on developing quality control standards for the most important botanical ingredients used in the respective countries, ingredients that are also of global importance. This article provides an overview of the state of botanical dietary supplements and herbal medicines in different Pan American regions with a focus on the regulatory status of herbal products, the development of national quality and research initiatives, and policies related to agriculture conservation and sustainability, among other topics.

[IgA vasculitis with nephritis (Henoch-Schönlein purpura) after COVID-19: A case series and review of the literature]. / Vasculitis IgA con nefritis (púrpura de Schönlein-Henoch) tras COVID-19: una serie de casos y revisión de la literatura.

COVID-19 most related glomerular disease to date seems to be collapsing glomerulopathy, mostly in young Afroamerican patients with APOL1 gene risk alleles. However, in our population, predominant in elderly Caucasian patients, most biopsied pathology since the beginning of the pandemic has been IgA nephritis or Schönlein-Henoch purpura.Since the description of the first case of this entity after SARS-CoV-2 infection by our research group, three more cases have arisen, which are described in the following article. In contrast to the rest of IgA vasculitis cases reported, our patients presented more renal function deterioration and all of them required immunosupresive therapy. Moreover, some showed incomplete recovery of renal function.This case series strengthens the hypothesis that SARS-CoV-2 infection may be another trigger of this pathology.

IgA vasculitis with nephritis (Henoch-Schönlein purpura) after COVID-19: A case series and review of the literature.

COVID-19 most related glomerular disease to date seems to be collapsing glomerulopathy, mostly in young Afroamerican patients with APOL1 gene risk alleles. However, in our population, predominant in elderly Caucasian patients, most biopsied pathology since the beginning of the pandemic has been IgA nephritis or Schönlein-Henoch purpura. Since the description of the first case of this entity after SARS-CoV-2 infection by our research group, three more cases have arisen, which are described in the following article. In contrast to the rest of IgA vasculitis cases reported, our patients presented more renal function deterioration and all of them required immunosupresive therapy. Moreover, some showed incomplete recovery of renal function. This case series strengthens the hypothesis that SARS-CoV-2 infection may be another trigger of this pathology.

Oral Anticoagulation in Patients with Chronic Kidney Disease and Non-Valvular Atrial Fibrillation: The FAERC Study.

Atrial fibrillation (AF) is the most common arrhythmia in patients with chronic kidney disease (CKD), and its presence is associated with a higher risk of stroke and mortality. MATERIAL AND METHODS: The FAERC study performed a retrospective multicentre analysis of historical cohorts in which data were collected from arrhythmia diagnosis onwards. RESULTS: We analysed a Spanish cohort of 4749 patients with CKD (mean eGFR 33.9 mL/min) followed up in the nephrology clinic, observing a 12.2% prevalence of non-valvular AF. In total, 98.6% of these patients were receiving anticoagulant treatment, mainly with coumarins (79.7%). Using direct-acting oral anticoagulants (DOACs) was associated with fewer cerebrovascular events than using acenocoumarol, but in contrast with other studies, we could not corroborate the association of risk of bleeding, coronary events, or death with a type of anticoagulant prescribed. CONCLUSIONS: Atrial fibrillation is highly prevalent in renal patients. Direct-acting anticoagulants seem to be associated with fewer ischemic-embolic complications, with no differences in bleeding, coronary events, or mortality rates.

Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes.

Background: Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare disorder (< 1/1,000,000 individuals worldwide) linked to chromosome 10p14 in the DHTKD1 gene. This phenotype is characterized by an adolescent or adulthood-onset, slowly progressive distal muscle weakness and symmetrical atrophy associated with reduced or absent deep tendon reflexes. Currently, only two familiar cases from China have been reported: one familiar case of eight individuals affected by isolated DHTKD1 gene mutation and one familiar case of two individuals affected by DHTKD1 gene mutation and GJB1 gene mutation. Case report: We present the case of a 10-year-old male patient with obesity, frequent falls, swollen legs and thighs, and pain in the lower and upper limbs. We performed the clinical evaluation and a clinical targeted exome test, which reported mutations on DHTKD1 y NTRK2 genes. Conclusions: Due to scientific and technological advances, genetic dysfunctions that can cause different diseases have been identified with greater sensitivity. Globally, this is the eleventh case reported of DHTKD1 gene mutation linked to CMT2Q. Moreover, this is the first case related to NTRK2 gene mutation (linked to obesity, hyperphagia, and delayed development). The patient showed an atypical CMT2Q phenotype additional to obesity. Therefore, we propose to study metabolic disorders linked to hereditary peripheral neuropathies.

Introducción: La enfermedad de Charcot-Marie-Tooth tipo 2Q (CMT2Q) es una alteración poco frecuente (< 1/1,000,000 habitantes en todo el mundo) condicionada por mutaciones en el gen DHTKD1, localizado en el cromosoma 10p14. El padecimiento inicia en la adolescencia o la edad adulta de manera lenta y progresiva, con debilidad muscular y atrofia distal simétrica, y afecta predominantemente las extremidades inferiores y los reflejos tendinosos profundos, que se encuentran reducidos o ausentes. Solo se ha reportado un caso familiar de ocho personas afectadas con la mutación aislada en el gen DHTKD1 y un caso familiar de dos personas afectadas con mutaciones en los genes DHTKD1 y GJB1, ambas familias de China. Caso clínico: Se presenta el caso de un paciente de sexo masculino de 10 años y 11 meses de edad con obesidad, caídas frecuentes, edema de miembros pélvicos y dolor en las extremidades inferiores y superiores. Se realizaron valoración clínica y estudio genético molecular de exoma dirigido, el cual reportó mutaciones en los genes DHTKD1 y NTRK2. Conclusiones: Gracias al avance científico y tecnológico se han podido identificar con mayor precisión las alteraciones genéticas causantes de diferentes enfermedades. Este es el undécimo caso reportado en el mundo de una mutación en el gen DHTKD1 asociada con la enfermedad de CMT2Q. También es el primer caso relacionado con una mutación del gen NTRK2 (asociada con obesidad, hiperfagia y retraso en el desarrollo). El paciente presentó un cuadro clínico atípico de enfermedad de CMT2Q agregado a obesidad. Por ello, se sugiere estudiar a fondo la conexión entre trastornos metabólicos y neuropatías periféricas hereditarias.

Carboxyl ester hydrolases production and growth of a halophilic archaeon, Halobacterium sp. NRC-1.

The capability of Halobacterium sp. NRC-1 to synthesize carboxyl ester hydrolases was investigated, and the effect of physicochemical conditions on the growth rate and production of esterases was evaluated. The haloarchaeon synthesized a carboxyl ester hydrolase, confirming the genomic prediction. This enzymatic activity was intracellularly produced as a growth-associated metabolite. Esterase activity was assayed using different p-nitrophenyl-esters and triacyl-glycerides, which showed a preference for hydrolyzing tributyrin. The archaeal growth rate and esterase production were significantly influenced by the pH and the NaCl concentration. An interaction effect between temperature and NaCl was also seen. The maximal growth rate and esterase production found for Halobacterium sp. NRC-1 were 0.136 h(-1) (at 4.2 M NaCl, pH 6 and 44 degrees C) and 1.64 U/l (at 4.6 M NaCl, pH 6 and 30 degrees C), respectively. Furthermore, the effects of NaCl concentration, pH and temperature on enzyme activity were studied. Two maximal esterase activities were elucidated from the intracellular crude extract when it was incubated at different NaCl concentrations (1 M and 5 M) and at different pHs (6 and 7.5). This is the first report that shows experimentally the synthesis of carboxyl ester hydrolases by Halobacterium sp. NRC-1. This enzyme was found to be extremely halophilic (5 M NaCl) and thermophilic (80 degrees C), making it very interesting for future investigations in non-aqueous biocatalysis.

Production and characterization of esterase and lipase from Haloarcula marismortui.

The present study was conducted to investigate the capability of Haloarcula marismortui to synthesize esterases and lipases, and the effect of physicochemical conditions on the growth and the production of esterases and lipases. Finally, the effect of NaCl concentration and temperature on esterase and lipase activities was studied using intracellular crude extracts. In order to confirm the genomic prediction about the esterase and lipase synthesis, H. marismortui was cultured on a rich medium and the crude extracts (intra- or extracellular) obtained were assayed for both activities using p-nitrophenyl esters and triacylglycerides as substrates. Studies on the kinetics of growth and production of esterase and lipase of H. marismortui were performed, reaching a maximum growth rate of 0.053 h(-1) and maximal productions of intracellular esterase and lipase of 2.094 and 0.722 U l(-1) using p-nitrophenyl valerate and p-nitrophenyl laurate, respectively. Both enzymes were produced as growth-associated metabolites. The effects of temperature, pH, and NaCl concentration on the growth rate and production of enzymes were studied by using a Box-Behnken response surface design. The three response variables were significantly influenced by the physicochemical factors and an interaction effect between temperature and NaCl concentration was also evidenced. The surface response method estimated the following maximal values for growth rate and productions of esterase and lipase: 0.086 h(-1) (at 42.5 degrees C, pH 7.4, and 3.6 mol l(-1) NaCl), 2.3 U l(-1) (at 50 degrees C, pH 7.5, and 4.3 mol l(-1) NaCl), and 0.58 U l(-1) (at 50 degrees C, pH 7.6, and 4.5 mol l(-1) NaCl), respectively. Esterases were active at different salt concentrations, showing two optimal activities (at 0.5 and 5 mol l(-1) NaCl), which suggested the presence of two different esterases. Interestingly, in the absence of salt, esterase retained 50% residual activity. Esterases and lipase activities were maximal at 45 degrees C and inactive at 75 degrees C. This study represents the first report evidencing the synthesis of esterase and lipase by H. marismortui.

A new species of freshwater crab of the genus Strengeriana Pretzmann, 1971, from El Jardín Natural Reserve, Quindío, Colombia (Crustacea: Decapoda: Pseudothelphusidae).

A new species of Strengeriana Pretzmann, 1971, is described from the El Jardín Natural Reserve, Quindío Department, Colombia, on the western slope of the Central Andes. The genus is endemic to Colombia and is distributed in the Sierra Nevada de Santa Marta, and the Western and Central Andes, at elevations ranging from 700 to 2400 m. With the addition of the new species, Strengeriana now includes 17 species. Strengeriana quindiensis n. sp. is distinguished from its congeners mainly by the exopod of the third maxilliped being 0.92 times the length of the ischium and by the morphology of the first male gonopod, particularly the shapes of the mesial and lateral processes.