The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.

AIMS/HYPOTHESIS: The Latino population has been systematically underrepresented in large-scale genetic analyses, and previous studies have relied on the imputation of ungenotyped variants based on the 1000 Genomes (1000G) imputation panel, which results in suboptimal capture of low-frequency or Latino-enriched variants. The National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) released the largest multi-ancestry genotype reference panel representing a unique opportunity to analyse rare genetic variations in the Latino population. We hypothesise that a more comprehensive analysis of low/rare variation using the TOPMed panel would improve our knowledge of the genetics of type 2 diabetes in the Latino population. METHODS: We evaluated the TOPMed imputation performance using genotyping array and whole-exome sequence data in six Latino cohorts. To evaluate the ability of TOPMed imputation to increase the number of identified loci, we performed a Latino type 2 diabetes genome-wide association study (GWAS) meta-analysis in 8150 individuals with type 2 diabetes and 10,735 control individuals and replicated the results in six additional cohorts including whole-genome sequence data from the All of Us cohort. RESULTS: Compared with imputation with 1000G, the TOPMed panel improved the identification of rare and low-frequency variants. We identified 26 genome-wide significant signals including a novel variant (minor allele frequency 1.7%; OR 1.37, p=3.4 × 10-9). A Latino-tailored polygenic score constructed from our data and GWAS data from East Asian and European populations improved the prediction accuracy in a Latino target dataset, explaining up to 7.6% of the type 2 diabetes risk variance. CONCLUSIONS/INTERPRETATION: Our results demonstrate the utility of TOPMed imputation for identifying low-frequency variants in understudied populations, leading to the discovery of novel disease associations and the improvement of polygenic scores. DATA AVAILABILITY: Full summary statistics are available through the Common Metabolic Diseases Knowledge Portal ( https://t2d.hugeamp.org/downloads.html ) and through the GWAS catalog ( https://www.ebi.ac.uk/gwas/ , accession ID: GCST90255648). Polygenic score (PS) weights for each ancestry are available via the PGS catalog ( https://www.pgscatalog.org , publication ID: PGP000445, scores IDs: PGS003443, PGS003444 and PGS003445).

A scuticociliate causes mass mortality of Diadema antillarum in the Caribbean Sea.

Echinoderm mass mortality events shape marine ecosystems by altering the dynamics among major benthic groups. The sea urchin Diadema antillarum, virtually extirpated in the Caribbean in the early 1980s by an unknown cause, recently experienced another mass mortality beginning in January 2022. We investigated the cause of this mass mortality event through combined molecular biological and veterinary pathologic approaches comparing grossly normal and abnormal animals collected from 23 sites, representing locations that were either affected or unaffected at the time of sampling. Here, we report that a scuticociliate most similar to Philaster apodigitiformis was consistently associated with abnormal urchins at affected sites but was absent from unaffected sites. Experimentally challenging naïve urchins with a Philaster culture isolated from an abnormal, field-collected specimen resulted in gross signs consistent with those of the mortality event. The same ciliate was recovered from treated specimens postmortem, thus fulfilling Koch's postulates for this microorganism. We term this condition D. antillarum scuticociliatosis.

Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Background: Plasma lipid levels are a major risk factor for cardiovascular diseases. Although international efforts have identified a group of loci associated with the risk of dyslipidemia, Latin American populations have been underrepresented in these studies. Objective: To know the genetic variation occurring in lipid-related loci in the Mexican population and its association with dyslipidemia. Methods: We searched for single-nucleotide variants in 177 lipid candidate genes using previously published exome sequencing data from 2838 Mexican individuals belonging to three different cohorts. With the extracted variants, we performed a case-control study. Logistic regression and quantitative trait analyses were implemented in PLINK software. We used an LD pruning using a 50-kb sliding window size, a 5-kb window step size and a r2 threshold of 0.1. Results: Among the 34251 biallelic variants identified in our sample population, 33% showed low frequency. For case-control study, we selected 2521 variants based on a minor allele frequency ≥1% in all datasets. We found 19 variants in 9 genes significantly associated with at least one lipid trait, with the most significant associations found in the APOA1/C3/A4/A5-ZPR1-BUD13 gene cluster on chromosome 11. Notably, all 11 variants associated with hypertriglyceridemia were within this cluster; whereas variants associated with hypercholesterolemia were located at chromosome 2 and 19, and for low high density lipoprotein cholesterol were in chromosomes 9, 11, and 19. No significant associated variants were found for low density lipoprotein. We found several novel variants associated with different lipemic traits: rs3825041 in BUD13 with hypertriglyceridemia, rs7252453 in CILP2 with decreased risk to hypercholesterolemia and rs11076176 in CETP with increased risk to low high density lipoprotein cholesterol. Conclusions: We identified novel variants in lipid-regulation candidate genes in the Mexican population, an underrepresented population in genomic studies, demonstrating the necessity of more genomic studies on multi-ethnic populations to gain a deeper understanding of the genetic structure of the lipemic traits.

Coral reef restoration efforts in Latin American countries and territories.

Coral reefs worldwide are degrading due to climate change, overfishing, pollution, coastal development, coral bleaching, and diseases. In areas where the natural recovery of an ecosystem is negligible or protection through management interventions insufficient, active restoration becomes critical. The Reef Futures symposium in 2018 brought together over 400 reef restoration experts, businesses, and civil organizations, and galvanized them to save coral reefs through restoration or identify alternative solutions. The symposium highlighted that solutions and discoveries from long-term and ongoing coral reef restoration projects in Spanish-speaking countries in the Caribbean and Eastern Tropical Pacific were not well known internationally. Therefore, a meeting of scientists and practitioners working in these locations was held to compile the data on the extent of coral reef restoration efforts, advances and challenges. Here, we present unpublished data from 12 coral reef restoration case studies from five Latin American countries, describe their motivations and techniques used, and provide estimates on total annual project cost per unit area of reef intervened, spatial extent as well as project duration. We found that most projects used direct transplantation, the coral gardening method, micro-fragmentation or larval propagation, and aimed to optimize or scale-up restoration approaches (51%) or provide alternative, sustainable livelihood opportunities (15%) followed by promoting coral reef conservation stewardship and re-establishing a self-sustaining, functioning reef ecosystems (both 13%). Reasons for restoring coral reefs were mainly biotic and experimental (both 42%), followed by idealistic and pragmatic motivations (both 8%). The median annual total cost from all projects was $93,000 USD (range: $10,000 USD-$331,802 USD) (2018 dollars) and intervened a median spatial area of 1 ha (range: 0.06 ha-8.39 ha). The median project duration was 3 years; however, projects have lasted up to 17 years. Project feasibility was high with a median of 0.7 (range: 0.5-0.8). This study closes the knowledge gap between academia and practitioners and overcomes the language barrier by providing the first comprehensive compilation of data from ongoing coral reef restoration efforts in Latin America.

Diabetic by HbA1c, Normal by OGTT: A Frequent Finding in the Mexico City Diabetes Study.

CONTEXT: The agreement between glucose-based and hemoglobin A1c (HbA1c)-based American Diabetes Association criteria in the diagnosis of normal glucose tolerance, prediabetes, or diabetes is under scrutiny. A need to explore the issue among different populations exists. OBJECTIVE: Examine the results obtained with both methods in the diagnosis of the glycemic status. DESIGN: The Mexico City Diabetes Study is a population-based, prospective investigation. SETTING: Low-income elder urban community. PARTICIPANTS: All 854 participants without known diabetes had both oral glucose tolerance test (OGTT) and HbA1c measurements on the same day of the 2008 phase. INTERVENTIONS: Standardized protocol: questionnaires, anthropometry, and biomarkers. MAIN OUTCOME: Diagnostic classification of American Diabetes Association criteria. RESULTS: We found by OGTT normal glucose tolerance (NGT) in 512 (59.9%) participants, prediabetes [impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT)] in 261 (30.5%), and diabetes in 81 (9.4%). In total, 232 in the NGT group (45.3%) and 158 in the prediabetes group (60.5%) had HbA1c ≥6.5%. Body mass index, waist circumference, and blood pressure were significantly different among OGTT-defined diabetic status groups but not in the HbA1c-diagnosed group. We identified 404 participants in the NGT group with confirmed NGT throughout all phases of the Mexico City Diabetes Study. Of these, 184 (45.5%) had HbA1c ≥6.5%. In a vital/diabetes status follow-up performed subsequently, we found that, of these, 133 remained nondiabetic, 3 had prediabetes, 7 had diabetes, and 13 had died without diabetes; we were unable to ascertain the glycemic status in 5 and vital status in 23. CONCLUSIONS: Normal OGTT coexisting with elevated HbA1c is a common finding in this cohort. It is possible that this finding is not mediated by hyperglycemia. This might occur in similar populations.

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.

Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated genome-wide protein coding variation in a total of 8,227 individuals with T2D and 12,966 individuals without T2D of Latino descent. We identified a novel genetic variant in the IGF2 gene associated with ∼20% reduced risk for T2D. This variant, which has an allele frequency of 17% in the Mexican population but is rare in Europe, prevents splicing between IGF2 exons 1 and 2. We show in vitro and in human liver and adipose tissue that the variant is associated with a specific, allele-dosage-dependent reduction in the expression of IGF2 isoform 2. In individuals who do not carry the protective allele, expression of IGF2 isoform 2 in adipose is positively correlated with both incidence of T2D and increased plasma glycated hemoglobin in individuals without T2D, providing support that the protective effects are mediated by reductions in IGF2 isoform 2. Broad phenotypic examination of carriers of the protective variant revealed no association with other disease states or impaired reproductive health. These findings suggest that reducing IGF2 isoform 2 expression in relevant tissues has potential as a new therapeutic strategy for T2D, even beyond the Latin American population, with no major adverse effects on health or reproduction.

Ambroxol for fibromyalgia: one group pretest-posttest open-label pilot study.

A consistent line of investigation proposes that fibromyalgia is a sympathetically maintained neuropathic pain syndrome. Dorsal root ganglia sodium channels may play a major role in fibromyalgia pain transmission. Ambroxol is a secretolytic agent used in the treatment of various airway disorders. Recently, it was discovered that this compound is also an efficient sodium channel blocker with potent anti-neuropathic pain properties. We evaluated the add-on effect of ambroxol to the treatment of fibromyalgia. We studied 25 patients with fibromyalgia. Ambroxol was prescribed at the usual clinical dose of 30 mg PO 3 times a day × 1 month. At the beginning and at the end of the study, all participants filled out the Revised Fibromyalgia Impact Questionnaire (FIQ-R) and the 2010 ACR diagnostic criteria including the widespread pain index (WPI). At the end of the study, FIQ-R decreased from a baseline value of 62 ± 15 to 51 ± 19 (p = 0.013). Pain visual analogue scale decreased from 77 ± 14 to 56 ± 30 (p = 0.018). WPI diminished from 14.6 ± 3.1 to 10.4 ± 5.3 (p = 0.001). Side effects were minor. In this pilot study, the use of ambroxol was associated to decreased fibromyalgia pain and improved fibromyalgia symptoms. The open nature of our study does not allow extracting the placebo effect from the positive results. The drug was well tolerated. Ambroxol newly recognized pharmacological properties could theoretically interfere with fibromyalgia pain pathways. Dose escalating-controlled studies seem warranted.

Genome-wide association study of colorectal cancer in Hispanics.

Genome-wide association studies (GWAS) have identified 58 susceptibility alleles across 37 regions associated with the risk of colorectal cancer (CRC) with P < 5×10(-8) Most studies have been conducted in non-Hispanic whites and East Asians; however, the generalizability of these findings and the potential for ethnic-specific risk variation in Hispanic and Latino (HL) individuals have been largely understudied. We describe the first GWAS of common genetic variation contributing to CRC risk in HL (1611 CRC cases and 4330 controls). We also examine known susceptibility alleles and implement imputation-based fine-mapping to identify potential ethnicity-specific association signals in known risk regions. We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)]. Among the 57 previously published CRC susceptibility alleles with minor allele frequency ≥1%, 76.5% of SNPs had a consistent direction of effect and 19 (33.3%) were nominally statistically significant (P < 0.05). Further, rs185423955 and rs60892987 were identified as novel secondary susceptibility variants at 3q26.2 (P = 5.3×10(-5)) and 11q12.2 (P = 6.8×10(-5)), respectively. Our findings demonstrate the importance of fine mapping in HL. These results are informative for variant prioritization in functional studies and future risk prediction modeling in minority populations.

IL-8 and IL-6 primarily mediate the inflammatory response in fibromyalgia patients.

Fibromyalgia (FM) is a chronic disease that has been linked to inflammatory reactions and changes in the systemic levels of proinflammatory cytokines that modulate responses in the sympathetic nervous system and hypothalamic-pituitary-adrenal axis. We found that concentrations of IL-6 and IL-8 were elevated in FM patients. Both cytokines correlated with clinical scores, suggesting that IL-6 and IL-8 have additive or synergistic effects in perpetuating the chronic pain in FM patients. These findings indicate that IL-6 and IL-8 are two of the most constant inflammatory mediators in FM and that their levels correlate significantly with the severity of symptoms.

Disminución del influjo parasimpático en fibromialgia: Su relación con la Psiquiatría en un centro especializado de referencia nacional / Reduction of the parasympathetic influx in fibromyalgia: Its relationship with Psychiatry in a national referral specialized center

Antecedentes La fibromialgia (FM) se caracteriza por dolor crónico generalizado, fatiga, alteraciones del sueño, depresión, ansiedad y disautonomía (hiperactividad simpática). Objetivo Comparar la variabilidad de la frecuencia cardiaca (VFC) en mujeres: 20 pacientes con FM vs. 20 controles, mediante Holter de 24 hrs. Método La medición consistió en segmentos de cinco minutos. El dominio de la frecuencia se determinó por logaritmo natural de la razón LF/HF (Low/High Frecuencies). Se utilizó ANOVA simple para dos grupos de variables dimensionales. Resultados El rango de edad fue de 30 a 60 años. Nueve mujeres presentaron comorbilidad psiquiátrica: depresión (77.7%) y ansiedad (22.3%). Hubo diferencias (F=24.45, p<0.0001) en LF/HF entre los grupos en la fase nocturna del registro (22 hrs a 2 am), mostrándose mayor activación simpática en las pacientes. En el índice SDNN (desviación estándar de intervalos entre latidos) existieron diferencias significativas en 9 de 12 periodos del registro. En el índice pNN50 (porcentaje de intervalos que difieren en más de 50 milisegundos), el grupo control mostró valores más altos de 6 a 12 hrs. La variación nocturna se observó de 22 hrs. (F=22.37, p=0.0001) hasta las 6 am (F=30.27, p=0.0001). El indicador rMSSD (raíz cuadrada de la media de las diferencias de la frecuencia cardiaca) mostró valores más altos para el grupo control desde las 22 hrs. (F=67.71, p=0.0001) hasta las 6am (F=80.35, p=0.0001). Discusión y conclusión Los resultados reflejan la disminución del influjo parasimpático en las pacientes con FM. Esto confirma la participación del sistema nervioso parasimpático en la fisiopatología de la FM.

Background Fibromyalgia (FM) is characterized by chronic widespread pain, fatigue, sleep disturbances, depression, anxiety and dysautonomia (sympathetic hyperactivity). Objective To compare the heart rate variability (HRV) in women: 20 patients with FM vs. 20 controls by Holter 24 hrs. Method The measurement consisted of segments of five minutes. The frequency domain is determined by the natural logarithm of the LF/HF (Low/ High Frecuencies) reason. Simple ANOVA was used for two groups of dimensional variables. Results The age range was 30-60 years. Nine presented psychiatric comorbidity: depression (77.7%) and anxiety (22.3%). There were differences (F = 24.45, p <0.0001) in LF/HF between groups in the nocturnal phase of registration (22 pm to 2 am) showing increased sympathetic activation in patients. In the SDNN index (standard deviation of intervals between heartbeats) there were significant differences on December 9 periods of record. In pNN50 index (percentage of intervals which differ by more than 50 milliseconds), the control group showed higher values of 6 to 12 hrs. Nocturnal variation was observed in 22 hrs (F = 22.37, p = 0.0001) until 6am (F = 30.27, p = 0.0001). The rMSSD indicator (square root of the mean of the differences in heart rate) showed higher values for the control group from 22 hrs (F = 67.71, p = 0.0001) until 6am (F = 80.35, p = 0.0001). Discussion and conclusion The results reflect the decreased parasympathetic influence in patients with FM. This confirms the participation of parasympathetic nervous system in the pathophysiology of FM.

Risk factors associated to diabetes in Mexican population and phenotype of the individuals who will convert to diabetes / Factores de riesgo asociados con diabetes en la población mexicana y fenotipo de los individuos que desarrollarán diabetes

Objective. To describe risk factors associated to the incidence of type 2 diabetes (T2D) in Mexican population and to define phenotypic (clinical, anthropometric, metabolic) characteristics present in the individual who will convert to diabetes, regardless of time of onset. Materials and methods. The Mexico City Diabetes Study began in 1990, with 2 282 participants, and had three subsequent phases: 1994, 1998, and 2008. A systematic evaluation with an oral glucose tolerance test was performed in each phase. For diagnosis of T2D, American Diabetes Association criteria were used. Results. The population at risk was 1939 individuals. Subjects who were in the converter stage (initially non diabetic that eventually converted to T2D) had, at baseline, higher BMI (30 vs 27), systolic blood pressure (119 vs 116 mmHg), fasting glucose (90 vs 82mg/dl), triglycerides (239 vs 196mg/dl), and cholesterol (192 vs 190mg/dl), compared with subjects who remained non converters (p<0.05). Conclusion. The phenotype described represents a potentially identifiable phase and a target for preventive intervention.

Objetivo. Describir los factores de riesgo asociados con la incidencia de diabetes tipo 2 (T2D) en la población mexicana, así como el fenotipo de los sujetos que desarrollarán diabetes, independientemente del tiempo que lleve el desarrollo de esta nueva condición. Material y métodos. El Estudio de la Diabetes de la Ciudad de México inició en 1990 y tuvo un total de 2 282 participantes a los que se dio seguimiento en tres ocasiones: 1994, 1998 y 2008. Se realizó una curva de tolerancia a la glucosa para diagnosticar T2D, para lo cual se siguieron los criterios de la Asociación Americana de Diabetes. Resultados. La población en riesgo fue de 1939 sujetos. Los individuos en proceso de desarrollo (aquellos inicialmente no diabéticos que desarrollaron T2D) mostraron niveles más altos de IMC (30 vs 27), presión arterial sistólica (119 vs 116 mmHg), glucosa en ayuno (90 vs 82 mg/dl), triglicéridos (239 vs 196 mg/dl) y colesterol (192 vs 190 mg/dl), comparados con los sujetos que no desarrollaron T2D (p<0.05). Conclusiones. El estado de los individuos que se convertirán en diabéticos es discernible y representa una fase del padecimiento con potencial para la prevención.

Incidence of type 2 diabetes in Mexico: results of the Mexico City Diabetes Study after 18 years of follow-up.

OBJECTIVE: To estimate the incidence of type 2 diabetes (T2D) in Mexican population. MATERIALS AND METHODS: Population based prospective study. At baseline (1990), the population at risk (1939 non-diabetic adults 35-64 years) was evaluated with oral glucose tolerance test. Subsequent similar evaluations were done (1994, 1998, 2008). American Diabetes Association diagnostic criteria were applied. RESULTS: The period of observation was 27842 person-years, the cumulative incidence of T2D was 14.4 and 13.7 per 1000 person-years for men and women, respectively. Incidence was 15.8, 15.7 and 12.7 per 1 000 person-years for the second (1994), third (1998) and fourth (2008) follow-up phases, respectively. The mean age at diagnosis was 44 years for prevalent cases and 56 years for incident cases. CONCLUSIONS: This is the first estimate of long-term incidence of T2D in Mexican population. The incidence is among the highest reported worldwide. It remained with few changes throughout the study period.

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

IMPORTANCE: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. OBJECTIVES: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships. DESIGN, SETTING, AND PARTICIPANTS: Whole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14,276 participants and characterized in experimental assays. MAIN OUTCOME AND MEASURES: Prevalence of type 2 diabetes. Secondary outcomes included age of onset, body mass index, and effect on protein function. RESULTS: A single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3). This variant was observed in 0.36% of participants without type 2 diabetes and 2.1% of participants with it. In multiethnic replication data sets, the p.E508K variant was seen only in Latino patients (n = 1443 with type 2 diabetes and 1673 without it) and was associated with type 2 diabetes (OR, 4.16; 95% CI, 1.75-9.92; P = .0013). In experimental assays, HNF-1A protein encoding the p.E508K mutant demonstrated reduced transactivation activity of its target promoter compared with a wild-type protein. In our data, carriers and noncarriers of the p.E508K mutation with type 2 diabetes had no significant differences in compared clinical characteristics, including age at onset. The mean (SD) age for carriers was 45.3 years (11.2) vs 47.5 years (11.5) for noncarriers (P = .49) and the mean (SD) BMI for carriers was 28.2 (5.5) vs 29.3 (5.3) for noncarriers (P = .19). CONCLUSIONS AND RELEVANCE: Using whole-exome sequencing, we identified a single low-frequency variant in the MODY3-causing gene HNF1A that is associated with type 2 diabetes in Latino populations and may affect protein function. This finding may have implications for screening and therapeutic modification in this population, but additional studies are required.

Incidence of type 2 diabetes in Mexico: Results of The Mexico City Diabetes Study after 18 years of follow-up / Incidencia de diabetes tipo 2 en México: Resultados del Estudio de la Diabetes en la Ciudad de México después de 18 años de seguimiento

Objective. To estimate the incidence of type 2 diabetes (T2D) in Mexican population. Materials and methods. Population based prospective study. At baseline (1990), the population at risk (1939 non-diabetic adults 35-64 years) was evaluated with oral glucose tolerance test. Subsequent similar evaluations were done (1994, 1998, 2008). American Diabetes Association diagnostic criteria were applied. Results. The period of observation was 27842 person-years, the cumulative incidence of T2D was 14.4 and 13.7 per 1000 person-years for men and women, respectively. Incidence was 15.8, 15.7 and 12.7 per 1 000 person-years for the second (1994), third (1998) and fourth (2008) follow-up phases, respectively. The mean age at diagnosis was 44 years for prevalent cases and 56 years for incident cases. Conclusions. This is the first estimate of long-term incidence of T2D in Mexican population. The incidence is among the highest reported worldwide. It remained with few changes throughout the study period.

Objetivo. Estimar la incidencia de diabetes mellitus tipo 2 (T2D) en México. Material y métodos. Estudio prospectivo, de base poblacional. En el examen basal (1990) se evaluó a 1939 participantes normoglucémicos, con curva de tolerancia a la glucosa. Se realizó examen similar en tres evaluaciones subsecuentes (1994, 1998, 2008). Se aplicaron criterios recomendados por la American Diabetes Association. Resultados. En el tiempo de observación (27842 años persona), la incidencia acumulada de T2D fue de 14.4 y 13.7 por 1000 años persona en hombres y mujeres, respectivamente. En evaluaciones intermedias de (1994, 1998 y 2008) fue de 15.8, 15.7 y 12.7 por 1 000 años persona, respectivamente. Los casos prevalentes tuvieron edad promedio al diagnóstico de 44 años; los incidentes de 56 años. Conclusiones. Esta es la primera estimación a largo plazo de la incidencia de T2D en población mexicana. Los resultados se encuentran entre los más altos informados en el mundo.

Risk factors associated to diabetes in Mexican population and phenotype of the individuals who will convert to diabetes.

OBJECTIVE: To describe risk factors associated to the incidence of type 2 diabetes (T2D) in Mexican population and to define phenotypic (clinical, anthropometric, metabolic) characteristics present in the individual who will convert to diabetes, regardless of time of onset. MATERIALS AND METHODS: The Mexico City Diabetes Study began in 1990, with 2 282 participants, and had three subsequent phases: 1994, 1998, and 2008. A systematic evaluation with an oral glucose tolerance test was performed in each phase. For diagnosis of T2D, American Diabetes Association criteria were used. RESULTS: The population at risk was 1939 individuals. Subjects who were in the converter stage (initially non diabetic that eventually converted to T2D) had, at baseline, higher BMI (30 vs 27), systolic blood pressure (119 vs 116 mmHg), fasting glucose (90 vs 82mg/dl), triglycerides (239 vs 196mg/dl), and cholesterol (192 vs 190mg/dl), compared with subjects who remained non converters (p<0.05). CONCLUSION: The phenotype described represents a potentially identifiable phase and a target for preventive intervention.

Sweetened beverages intake, hyperuricemia and metabolic syndrome: the Mexico City Diabetes Study / Ingesta de bebidas endulzadas, hiperuricemia y síndrome metabólico: estudio de la Diabetes en la Ciudad de México

Objective. To determine prevalence of hyperuricemia and its relation with intake of sweetened beverages (SB) and metabolic syndrome (MS) in low income urban Mexican population. Materials and methods. A cross-sectional analysis of The Mexico City Diabetes Study, a prospective population-based investigation (1 173 participants) was performed. We used logistic regression, adjusted by pertinent variables. We determined prevalence of hyperuricemia and explored associations of uric acid levels with MS and intake of SB. Results. Prevalence of hyperuricemia was 26.5 and 19.8% in males and females respectively. In an adjusted multivariate model, body mass index, waist circumference, and triglyceride were higher as uric acid quartiles increased (p<0.005-0.001). The odds ratio for MS was 1.48 for 3rd uric acid quartile and 2.03 for 4th quartile. Higher consumption of SB was associated with higher uric acid levels (p<0.001). Conclusion. Prevalence of hyperuricemia is high. Potential association with intake of SB, resulting in metabolic alterations should be considered.

Objetivo. Determinar prevalencia de hiperuricemia en población mexicana urbana de bajos ingresos, relación con ingesta de bebidas endulzadas y síndrome metabólico. Material y métodos. Análisis transversal del Estudio de la Diabetes en la Ciudad de México (1 173 participantes), utilizando regresión logística, ajustada por variables pertinentes. Se determinó prevalencia de hiperuricemia, se exploraron asociaciones de niveles de ácido úrico con síndrome metabólico y bebidas endulzadas. Resultados. La prevalencia de hiperuricemia fue 26.5 y 19.8%, hombres y mujeres, respectivamente. El índice de masa corporal, circunferencia de cintura y triglicéridos fueron más altos con cada cuartil de ácido úrico (p<0.005 - 0.001). La razón de momios para síndrome metabólico fue 1.48 para el tercer cuartil y 2.03 para el cuarto. Se encontró mayor consumo de bebidas endulzadas a mayores niveles de acido úrico (p<0.001). Conclusión. La prevalencia de hiperuricemia es alta. La asociación con bebidas endulzadas y las alteraciones metabólicas resultantes deben considerarse.

Sweetened beverages intake, hyperuricemia and metabolic syndrome: the Mexico City Diabetes Study.

OBJECTIVE. To determine prevalence of hyperuricemia and its relation with intake of sweetened beverages (SB) and metabolic syndrome (MS) in low income urban Mexican population. MATERIALS AND METHODS. A cross-sectional analysis of The Mexico City Diabetes Study, a prospective population-based investigation (1 173 participants) was performed. We used logistic regression, adjusted by pertinent variables. We determined prevalence of hyperuricemia and explored associations of uric acid levels with MS and intake of SB. RESULTS. Prevalence of hyperuricemia was 26.5 and 19.8% in males and females respectively. In an adjusted multivariate model, body mass index, waist circumference, and triglyceride were higher as uric acid quartiles increased (p<0.005-0.001). The odds ratio for MS was 1.48 for 3rd uric acid quartile and 2.03 for 4th quartile. Higher consumption of SB was associated with higher uric acid levels (p<0.001). CONCLUSION. Prevalence of hyperuricemia is high. Potential association with intake of SB, resulting in metabolic alterations should be considered.

Funcionamiento familiar, creencias e inteligencia emocional en pacientes con trastorno obsesivo-compulsivo y sus familiares / Family functioning, beliefs regarding illness and emotional intelligence in patients with Obsessive Compulsive Disorder and in their relatives

Mental health problems, specifically mental disorders, develop from a complex system and not from a single cause. Obsessive-compulsive disorder (OCD) affects more than 2% of the population and generally the course of the illness is insidious and chronic. When functioning adequately, family constitutes a very important resource to face health problems and to help to improve the patient's life quality. This is the reason why it is important to underline the relevance of a stable, good functioning of the family system aimed at attaining an optimal development of all its members. Such development may be hindered by the family's incapability to modify functioning patterns at crucial moments when they are trapped in a series of inadaptable interactions which prevent to give specific solutions to the problems that are appearing, and when reporting, within a context of expressed emotion, an emotional over-involvement and high levels of hostility and criticism towards the member with OCD. Family accommodation is a phenomenon typical of families where the identified patient exerts a control based on aggressiveness when his/her wishes are not rewarded within the group. There are very few researches on the functioning of families of patients diagnosed with obsessive-compulsive disorder. Generally, these researches are related with the partially negative effects that the interactions have on the behavior of patients and their relatives by preventing or hindering the development of the subject's system. The accordance between the patient's emotional regulation or emotional intelligence and their relatives has not been studied. On the other hand, the knowledge of the beliefs that relatives hold regarding the illness may be related with the functioning of the group as a family, whereas beliefs will provide consistency to family life because they provide continuity between past, present and future. They are also a way to address new and ambiguous situations such as mental illness. This is the reason why getting to know these family systems may allow elaborating more specific and effective intervention programs for groups and families. Objective To determine the family types through a member identified with obsessive-compulsive disorder; to compare the emotional intelligence profile between patients and relatives according to the perceived type of family; to compare the relatives' beliefs toward the illness according to the perceived type of family. Material and methods A sample of patients and their families with obsessive-compulsive disorder was obtained from those who were sent by the doctor in charge of their treatment to participate in a model of group therapy for OCD, consisting of cognitive behavioral theory, practices and psychoeducation. During the first session patients and their relatives answered the following instruments: Family Adjustment and Cohesion scales (FACES-II) by Olson, Profile of Emotional Intelligence (PIEMO) by Cortés et al., Beck Inventory of Anxiety. Relatives answered too the Beliefs and Attributions Questionnaire by Salorio et al. In addition, data on family structure was complied. The sample was constituted by 48 patients and 61 relatives. All instruments were self-applied. Once that the type was obtained according to the Olson's circumflex model, the emotional profile, the anxious and the depressive symptoms were compared through factorial 2x3 ANOVA. Beliefs and attributions were compared through simple ANOVA. Results Three types of families were determined as follows: high cohesion with chaotic standards for expressing emotions and ideas; high cohesion with a rigid expression of ideas and emotions; low cohesion with a little expression of ideas and emotions. Different profiles of emotional intelligence were found not only for patients but also for relatives, in each family type. Families with high cohesion and high adjustment appear as most emotionally intelligent, less anxious and depressed, and with beliefs more attuned to reality. This type of family function was the less frequent. For beliefs and illness attributions, it was observed that comprehension of the disorder increases in proportion to a higher family adaptation, while the tendency of family members to experience feelings of guilt either towards themselves or towards the patient is decreased. As a result, the perception of experiencing the patient's illness as a nuisance disappears. With regard to the results of the Beck scales, family members perceived a high cohesion and low adaptation had higher scores for depression and anxiety. In patients who show high levels of depression and anxiety perceive family functioning as a rigid structure, with little prospect of change and interaction that prevents growth (high cohesion, low adaptation), and in those perceived isolation, without significant emotional ties with other family members and with the rigidity that prevents problem situations. Conclusions The results obtained are congruent with Olson's statements in regard to family functioning in the specific case of obsessive- compulsive disorder; these findings permit to understand the family dynamics which may typify the symptoms in the identified patients, and also to explain the adjustment situation described in literature. Family intervention is justified, stressing the handling of emotions as an important element to be considered in order to obtain higher therapeutic benefits for the patient. This study found differences in adjustment between patients and their families, do not perceive the need for flexibility in the operation of the system to find solutions that do not perpetuate and sustain interactions that reinforce symptoms. As for depression and anxiety, similar levels in either condition may be observed, thus confirming the close relationship between both. It was found that in patients and relatives, higher levels of family adaptation correspond to lower levels of depressive and anxious symptoms. One of the first approaches to the dynamics of these systems must be headed towards the family systems of beliefs, as the ideas that family members hold regarding the importance of their participation in the whole process of the illness has an impact in its course. Many families have rigid systems that make them more vulnerable to the fluctuations that this illness presents since for their members it is important and decisive to have control over the ailment. Families with flexible systems of beliefs are more prone to experience losses with a feeling of acceptance and therefore it is easier for them to let their members to implement changes in their functioning, thus compensating and overcoming their limitations. In this sense it is important to attain a therapeutic collaboration relationship that may create within the family a sense of realistic control and may help also to put into action the system's capabilities to promote improvement. This idea allows for openness in the system that may lead it to consider that there are more efficient operational measures that those applied to date.

Los problemas de salud mental y específicamente los trastornos mentales se desarrollan a partir de un complejo sistema biopsicosocial y difícilmente se puede identificar una causa única. El trastorno obsesivo compulsivo (TOC) afecta a más de 2% de la población y en general el curso de la enfermedad es insidioso y crónico. La familia es un importante recurso para enfrentar los problemas de salud y facilitar el mejoramiento de la calidad de vida del paciente, cuando su funcionamiento es adecuado. Existen pocas investigaciones realizadas sobre el funcionamiento de las familias de pacientes diagnosticados con trastorno obsesivo-compulsivo. Generalmente estas investigaciones están relacionadas con los efectos potencialmente negativos que dichas interacciones tienen en las conductas de pacientes y familiares que impiden u obstaculizan el desarrollo del sistema y de los individuos. La concordancia de la regulación emocional o inteligencia emocional de los pacientes y sus familiares no ha sido estudiada. Por otra parte el conocimiento de las creencias sobre la enfermedad por parte de los familiares puede estar relacionado con el funcionamiento del grupo como familia. Es por ello que el conocimiento de estos sistemas familiares podrá permitir estructurar programas de intervención grupal o familiar más específicos y eficaces. Objetivo Determinar la tipología de las familias con un miembro identificado con trastorno obsesivo compulsivo, comparando tres aspectos: 1) El perfil de inteligencia emocional entre pacientes y familiares según el tipo de familia percibido. 2) La ansiedad y depresión entre pacientes y familiares según el tipo de familia percibido y 3) Las creencias de los familiares hacia la enfermedad según el tipo de familia percibido. Material y métodos Se obtuvo una muestra de pacientes y sus familiares con trastorno obsesivo compulsivo (TOC) los que fueron enviados por su médico tratante a participar en el modelo terapéutico grupal para TOC, que consiste en Teoría y Técnicas cognitivo conductuales y psicoeducativas. Durante la primera sesión los pacientes y sus familiares acompañantes contestaron los siguientes instrumentos: Escala de cohesión y adaptación familiar (FACES-II) de Olson et al., Perfil de Inteligencia Emocional (PIEMO 2000) de Cortés et al., Inventario de Ansiedad de Beck, Inventario de depresión de Beck. Los familiares contestaron además el Cuestionario de Creencias y Atribuciones sobre la enfermedad de Salorio et al. Además se recabaron datos sobre la estructura familiar. La muestra se conformó por 48 pacientes y 61 familiares. Todos los instrumentos fueron autoaplicados. Una vez obtenida la tipología según el modelo circumplejo de Olson se compararon el perfil emocional y los síntomas ansiosos y depresivos por medio de ANOVA factorial 2x3. Las creencias y atribuciones se compararon por medio de ANOVA simple. Resultados Se determinaron tres tipos de familia: 1. Las de alta cohesión con lineamientos caóticos para la expresión de emociones e ideas. 2. Las de alta cohesión con rigidez en la expresión de ideas y emociones y 3. Las de baja cohesión con escasa expresión de ideas y emociones. Se encontraron perfiles de inteligencia emocional diferentes tanto para pacientes como para familiares en cada uno de los tipos de familia. Las familias con alta cohesión y adaptación se manifiestan como las más inteligentes emocionalmente, menos ansiosas y deprimidas y con creencias más apegadas a la realidad. Sin embargo, este grupo fue el menos frecuente. Conclusiones Los resultados obtenidos son coherentes con los planteamientos de Olson en relación al funcionamiento de las familias. En el caso específico del trastorno obsesivo-compulsivo estos hallazgos permiten entender la dinámica familiar que pudiera caracterizar el mantenimiento de la sintomatología en los pacientes identificados. La intervención familiar es un elemento importante a considerar para obtener mayores beneficios terapéuticos para el paciente.