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BACKGROUND: The incidence of differentiated thyroid cancer (DTC) is low in Cuba, and the contribution of dietary factors to DTC in this population has not been investigated so far. The aim of this study was to evaluate the relationship between dietary iodine intake and DTC with regard to the interaction with environmental factors or some common single nucleotide polymorphisms (SNPs), based on a case-control study carried out in Cuba. METHODS: A total of 203 cases and 212 controls from the general population were interviewed face-to-face using the dietary intake questionnaire and the photo booklet from the E3N cohort. A specific food composition table was constructed for this study. For each parameter studied, the odds ratio (OR) was stratified on age group and sex, and further adjusted for dietary energy, smoking status, ethnic group, level of education, number of pregnancies, and body surface area. RESULTS: The risk of DTC was significantly reduced with increasing consumption of fish (p = 0.04), but no association between total dietary iodine intake and DTC risk was evident (p = 0.7). This lack of significant association was true whatever the age, the smoking status, the dietary selenium intake, and the ethnicity (p > 0.05). DTC risk was positively and strongly associated with the number of copies in the minor allele (A) for SNP rs965513 near FOXE1 among people who consumed less iodine than the median (p = 0.005). CONCLUSION: Overall, the majority of the studied population had an optimal dietary iodine intake. DTC risk was inversely associated with high fish consumption. Furthermore, DTC risk was positively associated with the number of copies in the minor allele (A) of rs965513 among people who consumed less iodine than the median. Because these findings are based on post-diagnostic measures, studies with pre-diagnostic dietary iodine are needed for confirmation.

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El cromosoma en anillo es una infrecuente alteración cromosómica caracterizada por la delección del cromosoma en ambos extremos y su posterior ensamblaje en forma circular. El fenotipo y la clínica del paciente se hallan en relación directa con la cantidad de material genético perdido en los extremos así como el cromosoma involucado. El sx del cromosoma 20 en anillo se caracteriza a su vez, por retraso mental, trastornos de conducta, dismorfias y epilepsia refractaria con crisis polimorfas, siendo el tercer tipo de epilepsia conocido de base genética localizado en el cromosoma 20, en el locus 20q13. Caso dos lactantes, de 9 meses de edad, que consultan por retraso psicomotor y rasgos dismórficos. Producto de un embarazo gemelar monocorial-monoamniotico, parto por cesárea, ambas ingresadas en incubadora por 24 días por bajo peso, Gemela 1: Peso:1.600 grs, presenta un mamelón preauricular y en las extremidades inferiores se visualizan manchas café con leche. Sostén cefálico a los 7 meses y Gemela 2: Peso: 1.570 grs. Sostén cefálico a los 6 meses. En ella la madre refiere crisis de hiperextensibilidad, sin diagnostico etiológico. Por lo demás el fenotipo de ambas es superponible: dolicocefalia, hipertelorismo, fisuras palpebrales estrechas con pliegues epicánticos. TAC, ecocardiograma y examen oftálmico normales para la edad. Hipotonía generalizada. Antecedentes familiares: madre y padre, casados en segundas nupcias, ambos de 44 años de edad, no consanguíneos. La madre tiene ocho hijos de su primera pareja y el padre un hijo. En el estudio citogenético de ambas se observó la presencia en mosaico de un cromosoma 20 en anillo: 45,XX,-20/46,XX,r(20) en el 5 % y 95% respectivamente de las metafases analizadas. Se desconoce reportes previos de ocurrencia del cromosoma 20 en anillo en gemelos monocigotos. Se discuten las posibles implicancias clínicas, considerando que esta anormalidad podría comprometer a dos genes relacionados con canalopatías epilépticas (CHRNA4 y KCNQ2).

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Patients with systemic sclerosis (SS) have cardiac dysfunction induced by cold exposure. We and others have demonstrated this finding after corporal chilling, suggesting a "coronary Raynaud phenomenon" mediated by intermittent vascular spasm. In this study we evaluated the effect of diltiazem (DTZ) in cardiac dysfunction induced by cold test in patients with SS without clinical evidence of heart disease. Twelve patients with SS were studied. One patient was excluded because he did not fulfill the prescribed treatment. Eleven patients (age of 49.9 +/- 3.8 years and illness duration of 9.3 +/- 4.8 years) were included. Gated equilibrium radionuclide ventriculography was recorded after red blood cells were labeled in vivo using an intravenous injection of stannous pirophosphate followed by 20 mc of 99 Tc (gamma camera with electrocardiographic R wave gating was used). Left ventricular injection fraction (LVEF) was calculated using computer analysis and wall motion abnormalities by visual interpretation. Patients were cooled using a thermic blanket set at 5 degrees centigrade. They were evaluated before and after a period of cooling. After corporal chilling LVEF decreased more than 10% in all of them. DTZ 270 mg a day was administered to the same patients during 48 hs. Basal and cold LVEF were repeated in all patients. The results with and without DTZ were compared by Student's t Test. The basal LVEF with and without DTZ was not different (64.8 +/- 2.6 and 63.1 +/- 1.8). After corporal chilling LVEF decreased (64.8 +/- 2.6 to 54.8 +/- 2.5 p < 0.00001) and reversible abnormalities in wall motion were noticed in patients without DTZ. When they received DTZ neither difference in LVEF (63.1 +/- 1.8 to 62.1 +/- 2.4) nor wall motion abnormalities were observed. We compared the LVEF after chilling (62.1 +/- 2.4 and 54.8 +/- 2.5) and we found an important difference with the use of DTZ (p < 0.005). It can be concluded that in patients with SS and no overt heart disease, DTZ prevents the early cardiac dysfunction induced by cold test. Probably this drug blunts the coronary spasm induced by cold test in this group of patients.

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Cardiac abnormalities are frequent in patients with systemic sclerosis (SS). These abnormalities have been demonstrated in over 80% of patients with SS and there are some clues that suggest that an intermittent vascular spasm (i.e. coronary Raynaud's phenomenon) is one of the causes of myocardial dysfunction in this group of patients. The aim of this prospective study was to evaluate the ventricular performance and regional wall motion during exposure to cold in patients with SS and Raynaud's phenomenon without overt cardiac disease. Twenty-four patients and 10 normal volunteers underwent radionuclide ventriculograms (RV). In each subject the RV was done thrice: basal, 20 minutes after chilling with thermic blanket and post reheating. The left ventricular ejection fraction (LVEF) decreased during the cold test (p = 0.03) with reversible abnormalities in wall motion. Basal Right Ventricular Ejection Fraction (RVEF) was lower than that of normal subjects (p = 0.02) and decreased during the cold test (p = 0.04). Therefore, we were able to demonstrate an early cardiac dysfunction associated with impaired wall motion after corporal chilling. These findings suggest that coronary spasm in SS would be an early and frequent phenomenon that would precede the development of symptomatic cardiac disease in some patients with this illness.

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Cardiac abnormalities are frequent in patients with systemic sclerosis (SS). These abnormalities have been demonstrated in over 80

of patients with SS and there are some clues that suggest that an intermittent vascular spasm (i.e. coronary Raynauds phenomenon) is one of the causes of myocardial dysfunction in this group of patients. The aim of this prospective study was to evaluate the ventricular performance and regional wall motion during exposure to cold in patients with SS and Raynauds phenomenon without overt cardiac disease. Twenty-four patients and 10 normal volunteers underwent radionuclide ventriculograms (RV). In each subject the RV was done thrice: basal, 20 minutes after chilling with thermic blanket and post reheating. The left ventricular ejection fraction (LVEF) decreased during the cold test (p = 0.03) with reversible abnormalities in wall motion. Basal Right Ventricular Ejection Fraction (RVEF) was lower than that of normal subjects (p = 0.02) and decreased during the cold test (p = 0.04). Therefore, we were able to demonstrate an early cardiac dysfunction associated with impaired wall motion after corporal chilling. These findings suggest that coronary spasm in SS would be an early and frequent phenomenon that would precede the development of symptomatic cardiac disease in some patients with this illness.

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Lupus anticoagulant activity and anti-phospholipid antibodies (aPL) were found in a six-year-old child with cerebral ischemic infarction in the absence of any underlying disease. The association of these antibodies with thrombosis has been well documented in adult patients. In view of our observation, we believe that aPL may also be involved in the pathogenesis of arterial thrombotic events in childhood, and aPL should be systematically searched in these cases.

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Six patients are reported in whom systemic lupus erythematosus (SLE) and thyrotoxicosis coexisted. All had four or more American Rheumatism Association criteria (1982) for the diagnosis of SLE and had clinical manifestations and function test results characteristic of hyperthyroidism (except for one who had been thyroidectomised previously). In three patients the diagnosis of hyperthyroidism preceded that of SLE, in two patients both diseases began simultaneously, and only in one was the diagnosis of thyrotoxicosis made after that of SLE. It is suggested that hyperthyroidism associated with SLE may be a form of presentation of thyroiditis. This association may pass unnoticed because of the similarity of some clinical manifestations.

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When she was five years old, this patient - aged 20 time of death - had had two diagnoses: Leri-Weill's disease and SLE. The latter led to uninterrupted use of systemic corticosteroids. Twelve months before death, multiple purulent bursitis were followed by cutaneous nodules. From the latter, but not from the former, Mycobacterium fortuitum was isolated. Our case is in agreement with what is generally accepted: this saprophyte organism becomes pathogenic in disseminated infections, only if the immune system deteriorates.

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