Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease.

INTRODUCTION: Blood relatives of patients with familial papillary thyroid carcinoma (FPTC) have a higher rate of thyroid disease. This study analyzed the utility of a screening protocol for thyroid disease on blood relatives of patients with FPTC. STUDY POPULATION: Members of families diagnosed with FPTC. INCLUSION CRITERIA: (1) first- and second-degree relatives; and (2) older than age 11 years. Screening: This includes the subject's clinical history, a physical examination, blood tests, and an ultrasound examination. CONTROL GROUP: A nonrelated healthy population paired by age and sex with the study group. RESULTS: Sixty-eight percent of blood relatives (128/189) accepted having the screening. The results showed 44.5 % (n = 57) of the relatives did not have disease, 44 % (n = 56) had benign thyroid disease, and 11.5 % (n = 15) had a disease suggestive of malignancy. After the screening, surgery was indicated in 26 patients, and the final results of the study were: (1) 44.5 % (n = 57) were healthy subjects; (2) 50 % (n = 64) had benign thyroid disease (26 cases with a functional disease, and/or 56 with an organic disease); and (3) 5.5 % (n = 7) had malignant thyroid disease. The first-degree relatives had a higher tendency to have the disease than second degree ones (64 vs. 46 %; p = 0.0482). In the control group, the incidence of thyroid cancer was 1.3 % compared with 5.5 % in the study group (p = 0.0182). CONCLUSIONS: Screening allows for the early detection of papillary carcinoma and benign thyroid disease and for this reason we recommend that it is performed periodically. However, more studies, with larger sample sizes, are needed to determine the benefit of screening.

Ultrasonographic risk factors of malignancy in thyroid nodules.

INTRODUCTION: Between 40 and 50 % of the population will have at least one thyroid nodule, although only 5-8 % will have a malignant one. OBJECTIVE: The objective of this study was to establish the ultrasonographic characteristics which allow us to distinguish benignity from malignancy in thyroid nodules. METHODS: In the study population, inclusion criteria are (1) a single thyroid nodule and (2) multinodular goiter and exclusion criteria are (1) previous thyroid surgery and (2) fine needle aspiration (FNA) in the past month. This study is a double-blind prospective study. The study protocol is as follows: (1) clinical study; (2) ultrasound examination; (3) FNA; and (4) surgery-follow-up. The variables analysed are as follows: a multinodular nodule or goitre; colloid degeneration; morphology; margins; hyperechoic rim; rim thickness; rim morphology; size; angle between the major axis and the skin; echostructure; posterior acoustic findings; calcifications; thick colloid; localization of the intrathyroid nodular tissue; and characteristics in the Doppler scan. RESULTS: A total of 221 thyroid nodules were analysed. The following ultrasound findings were associated with malignancy (p < 0.05): a nodule with posterior acoustic shadowing; the echotexture of the nodule; intranodular colloid degeneration; nodule margins; nodular morphology; the presence of thick colloid; the angle between the major axis and the skin; characteristics of the intranodular vessels using color Doppler and Doppler energy; and calcifications. In the multivariate analysis, the following factors persisted as predictors of malignancy: the echotexture of the nodule (odds ratio 12.81), microcalcifications (OR 9.05), and chaotic vascularisation in the Doppler energy (OR 43.47). CONCLUSIONS: The high-resolution ultrasound allowed for a more reliable diagnosis of malignancy. The main findings of malignancy were the hypoechogenicity echotexture, microcalcifications, and chaotic intranodular vessels using Doppler energy.

Is Acarapis woodi a single species? A new PCR protocol to evaluate its prevalence.

Acarapisosis is a disease of the adult honey bee Apis mellifera L., caused by the tracheal mite Acarapis woodi (Rennie), that affects the prothoracic tracheas of worker honey bees. Although it is not usually considered a real problem for honey bee colonies in southern Europe (mainly Spain and Greece), where the majority of professional beekeepers are located in Europe, recent works have reported the constant presence of this mite in this area, making it a potential cofactor for colony losses. In this study, we developed a specific PCR diagnostic tool that improves the techniques used so far and allowed us to confirm the presence of this parasite in Spain, urging the need to monitor its prevalence and implications in the health of the colonies. Indeed, in a total of 635 apiaries analysed, the prevalence of A. woodi in 2010 was 8.3 and 4 % in 2011. The mite is present in bee colonies over time and should not be underestimated as a possible cofactor in the collapse of bee colonies. Additionally, some positive samples were cloned so a genetic analysis on the diversity within A. woodi isolates was also approached. This allowed us to identify different genetic variants within an isolate, even when they were present at low frequencies. And this genetic analysis revealed the existence of a different clade of Acarapis sequences that could represent a new species or subspecies, although more research is required to verify the identity of this novel lineage at genetic and morphological level.

Stroke incidence and risk factors in Havana and Matanzas, Cuba.

INTRODUCTION: Cerebrovascular disease is the third-leading cause of death and the second-leading cause of disability and dementia. OBJECTIVE: Determine stroke incidence and risk factors in a population of adults aged 65 and over in Cuba (Havana and Matanzas). MATERIAL AND METHODS: This prospective longitudinal study, completed between April 2008 and Abril 2011, re-evaluated 2916 elderly adults with an average follow-up time of 4 years. Cases included 2316 living subjects and 600 verbal autopsies. Study variables were age, sex, educational level, self-reported health, and description of chronic diseases and substance abuse. Laboratory tests included genotyping APOE. Stroke was diagnosed based on the World Health Organization definition. We calculated the global incidence rate for stroke, broken down by sex, age group, and risk factors for incident stroke. RESULTS: Stroke incidence was 786.2 in 100000 persons/year (95% CI: 672.3-906.4). History of alcohol consumption (HR: 3.5; 95% CI: 3.3-3.7), dementia (HR: 3.0; 95% CI, 1.6-5.5) and male sex (HR: 1.8; 95% CI, 1.2-2.8) were shown to be risk factors for incident stroke. CONCLUSIONS: Stroke incidence was similar to rates reported in developed countries and lower than that in low- to middle-income countries. Given that diabetes mellitus, heart disease, arterial hypertension, smoking, APOE4, etc. are associated with higher mortality rates, they will require separate analysis in a study of stroke risk factors.

Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study.

BACKGROUND: The prevalence and incidence of dementia are low in Nigeria, but high among African-Americans. In these populations there is a high frequency of the risk-conferring APOE-e4 allele, but the risk ratio is less than in Europeans. In an admixed population of older Cubans we explored the effects of ethnic identity and genetic admixture on APOE genotype, its association with dementia, and dementia prevalence. METHODS: A cross-sectional catchment area survey of 2928 residents aged 65 and over, with a nested case-control study of individual admixture. Dementia diagnosis was established using 10/66 Dementia and DSM-IV criteria. APOE genotype was determined in 2520 participants, and genetic admixture in 235 dementia cases and 349 controls. RESULTS: Mean African admixture proportions were 5.8% for 'white', 28.6% for 'mixed' and 49.6% for 'black' ethnic identities. All three groups were substantially admixed with considerable overlap. African admixture was linearly related to number of APOE-e4 alleles. One or more APOE-e4 alleles was associated with dementia in 'white' and 'black' but not 'mixed' groups but neither this, nor the interaction between APOE-e4 and African admixture (PR 0.52, 95% CI 0.13-2.08) were statistically significant. Neither ethnic identity nor African admixture was associated with dementia prevalence when assessed separately. However, considering their joint effects African versus European admixture was independently associated with a higher prevalence, and 'mixed' or 'black' identity with a lower prevalence of dementia. CONCLUSIONS: APOE genotype is strongly associated with ancestry. Larger studies are needed to confirm whether the concentration of the high-risk allele in those with African ancestry is offset by an attenuation of its effect. Counter to our hypothesis, African admixture may be associated with higher risk of dementia. Although strongly correlated, effects of admixture and ethnic identity should be distinguished when assessing genetic and environmental contributions to disease risk in mixed ancestry populations.

Incidencia y factores de riesgo de ictus en La Habana y Matanzas, Cuba / Stroke incidence and risk factors in Havana and Matanzas, Cuba

Introducción: La enfermedad cerebrovascular constituye la tercera causa de muerte y la segunda de discapacidad y demencia. Objetivo: Determinar la incidencia y los factores de riesgo de ictus en adultos de 65 años y más en La Habana y Matanzas, Cuba. Material y método: Se realizó un estudio prospectivo longitudinal, entre abril del 2008 y abril del 2011, que reevaluó a 2.916 adultos mayores, con una media de seguimiento de 4 años, incluidos 2.316 adultos vivos y 600 autopsias verbales. Las variables utilizadas fueron: edad, sexo, nivel educacional, autorreporte y descripción de enfermedades crónicas y hábitos tóxicos. Se realizaron exámenes de laboratorio, incluido el genotipo de la APOE. El diagnóstico de ictus se basó en la definición de la Organización Mundial de la Salud. Se calculó la tasa de incidencia de ictus global, por sexos y grupos de edad, y los factores de riesgo de ictus incidente. Resultados: La incidencia de ictus fue de 786,2 por 100.000 personas/año (IC del 95%, 672,3-906,4). El antecedente de consumo de alcohol (HR: 3,5; IC del 95%, 3,3-3,7) y la demencia (HR: 3,0; IC del 95%, 1,6-5,5) y el sexo masculino (HR: 1,8; IC del 95%, 1,2-2,8) constituyeron factores de riesgo de ictus incidente. Conclusiones: La incidencia de ictus es similar a la reportada en países desarrollados y menor que la reportada en otros países de bajos y medianos ingresos. Como la diabetes mellitus, enfermedad cardiaca, la hipertensión arterial, el hábito de fumar y APOE4, entre otros, se asocian con una mayor mortalidad requieren un análisis diferente en el estudio de factores de riesgo de ictus

Introduction: Cerebrovascular disease is the third-leading cause of death and the second-leading cause of disability and dementia. Objective: Determine stroke incidence and risk factors in a population of adults aged 65 and over in Cuba (Havana and Matanzas). Material and methods: This prospective longitudinal study, completed between April 2008 and Abril 2011, re-evaluated 2916 elderly adults with an average follow-up time of 4 years. Cases included 2316 living subjects and 600 verbal autopsies. Study variables were age, sex, educational level, self-reported health, and description of chronic diseases and substance abuse. Laboratory tests included genotyping APOE. Stroke was diagnosed based on the World Health Organization definition. We calculated the global incidence rate for stroke, broken down by sex, age group, and risk factors for incident stroke. Results: Stroke incidence was 786.2 in 100 000 persons/year (95% CI: 672.3-906.4). History of alcohol consumption (HR: 3.5; 95% CI: 3.3-3.7), dementia (HR: 3.0; 95% CI, 1.6-5.5) and male sex (HR: 1.8; 95% CI, 1.2-2.8) were shown to be risk factors for incident stroke. Conclusions: Stroke incidence was similar to rates reported in developed countries and lower than that in low- to middle-income countries. Given that diabetes mellitus, heart disease, arterial hypertension, smoking, APOE4, etc. are associated with higher mortality rates, they will require separate analysis in a study of stroke risk factors

Factors associated with poor outcomes in patients with lupus nephritis.

The objective of this study was to identify the factors associated with important clinical outcomes in a case-control study of 213 patients with lupus nephritis. Included were 47% Hispanics, 44% African Americans and 9% Caucasians with a mean age of 28 years. Fifty-four (25%) patients reached the primary composite outcome of doubling serum creatinine, end-stage renal disease or death during a mean follow-up of 37 months. Thirty-four percent African Americans, 20% Hispanics and 10% Caucasians reached the primary composite outcome (P < 0.05). Patients reaching the composite outcome had predominantly proliferative lupus nephritis (WHO classes: 30% III, 32% IV, 18% V and 5% II, P < 0.025) with higher activity index score (7 +/- 6 versus 5 +/- 5, P < 0.05), chronicity index (CI) score (4 +/- 3 versus 2 +/- 2 unit, P < 0.025), higher baseline mean arterial pressure (MAP) (111 +/- 21 versus 102 +/- 14 mmHg, P < 0.025) and serum creatinine (1.9 +/- 1.3 versus 1.3 +/- 1.0 mg/dL, P < 0.025), but lower baseline hematocrit (29 +/- 6 versus 31 + 5%, P < 0.025) and complement C3 (54 +/- 26 versus 65 + 33 mg/dL, P < 0.025) compared to controls. More patients reaching the composite outcome had nephrotic range proteinuria compared to controls (74% versus 56%, P < 0.025). By multivariate analysis, CI (hazard ratio [95% CI] 1.18 [1.07-1.30] per point), MAP (HR 1.02 [1.00-1.03] per mmHg), and baseline serum creatinine (HR 1.26 [1.04-1.54] per mg/dL) were independently associated with the composite outcome. We concluded that hypertension and elevated serum creatinine at the time of the kidney biopsy as well as a high CI are associated with an increased the risk for chronic renal failure or death in patients with lupus nephritis.