Practical diagnosis of red cell disorders in southern Spain.

BACKGROUND: Hereditary red cell disorders are associated with a protective effect against malaria, which results in an increased prevalence in malaria-endemic areas. Migratory flows from these areas are resulting in a marked increase in such abnormalities in Southern Spain. METHODS: All hemoglobin disorders diagnosed between 1997 and 2010 have been recorded. Since 2008, we have performed systematic screening for hemoglobinopathies on African patients. A high-pressure liquid chromatography system was used as screening method for structural hemoglobinopathies and for separation of hemoglobin (Hb) F and A(2). RESULTS: We detected 666 cases in patients of foreign origin and 308 in native Spanish patients. Thalassemias (thal) are the most frequent disorders amongst the local population: ß-thal minor, 57.1% (176/308); α-thal, 18.2% (56/308), and δß-thal, 7.8% (24/308). In ethnic minorities, there is a huge variety of hemoglobinopathies: heterozygous Hb S, 45% (300/666); heterozygous Hb C, 15% (100/666); ß-thal minor, 13.7% (91/666); α-thal, 10.2% (68/666); Hb SS in 14 patients, and Hb CC in 9 patients. Of the native patients, 14 were found to have Hb AS and 9 Hb AC. CONCLUSION: Given the modern migratory flows, greater knowledge of these disorders is needed by all medical staff, and new practical and cost/time-effective diagnostic approaches have to be devised.

Hipercoagulabilidad debida a resistencia adquirida a la proteína C activada: ¿primer signo de neoplasia de colon? / Hypercoagulable state due to acquired protein C resistance. Harbinger of colonic neoplasm?

La resistencia a la proteína C activada (RPCa) hereditaria se ha identificado como un importante factor de riesgo para sucesos tromboembólicos, y consiste en una mutación del factor V que lo hace irreconocible para la inhibición por la proteína C activada (Factor V Leiden, FVL). Sin embargo, la RPCa también se describe en pacientes sin FVL (RPCa adquirida) asociada a la presencia de anticoagulante lúpico, embarazo y neoplasias. Describimos un caso de TVP en una mujer de 54 años, sin síntomas digestivos y con marcadores tumorales negativos, que presentaba RPCa y fue diagnosticada un año después de adenocarcinoma de colon. Una vez consiguió remisión completa, se normalizó la RPCa y se descartó que presentara FVL. En el estudio de trombofilia, el hallazgo de RPCa puede verse influida por reactantes de fase aguda o por un proceso neoplásico, por lo que requiere una valoración evolutiva y un rastreo genético del FVL

Hereditary activated protein C resistance (aPCR) has been indentified as an important risk factor for the occurrence of thromboembolic events. It is most frequently hereditary, and caused by a point mutation in factor V, named Factor V Leiden (FVL), which renders it resistant to the anticoagulant action of circulating protein C. However, aPCR can also be found in absence of FVL (acquired aPCR), associated to lupus anticoagulant, pregnancy or neoplasms. We report a case of deep venous thrombosis (DVT) in a 54 year-old woman, with no digestive symptoms and negative screening for biochemical tumor markers, who presented with DVT from FVL-negative aPCR, one year before being diagnosed of colonic adenocarcinoma. Once complete remission of the carcinoma was reached, aPCR returned to normal values. In thrombophilia screening studies, the finding of aPCR may be caused by acute-phase reactants or neoplastic processes, and therefore require evolutive evaluation and genetic search for FVL

[Hypercoagulable state due to acquired protein C resistance, harbinger of colonic neoplasm?]. / Hipercoagulabilidad debida a resistencia adquirida a la proteína C activada: primer signo de neoplasia de colon?

Hereditary activated protein C resistance (aPCR) has been identified as an important risk factor for the occurrence of thromboembolic events. It is most frequently hereditary, and caused by a point mutation in factor V, named Factor V Leiden (FVL), which renders it resistant to the anticoagulant action of circulating protein C. However, aPCR can also be found in absence of FVL (acquired aPCR), associated to lupus anticoagulant, pregnancy or neoplasms. We report a case of deep venous thrombosis (DVT) in a 54 year-old woman, with no digestive symptoms and negative screening for biochemical tumor markers, who presented with DVT from FVL-negative aPCR, one year before being diagnosed of colonic adenocarcinoma. Once complete remission of the carcinoma was reached, aPCR returned to normal values. In thrombophilia screening studies, the finding of aPCR may be caused by acute-phase reactants or neoplastic processes, and therefore require evolutive evaluation and genetic search for FVL.

Blood pressure and urinary excretion of electrolytes in Spanish schoolchildren.

Despite the importance of hypertension in adults, its effects on child health are poorly understood. This cross-sectional epidemiological study was designed to look for a relationship between elevated blood pressure (BP) in children and 24-h urinary excretion of sodium (Na) and potassium (K), and between BP and dietary salt intake. The study population was all 59 856 schoolchildren aged 6 to 14 years in the province of Almería in southern Spain, among whom 613 participants were chosen randomly for study. We measured 24-h urinary Na and K concentrations, systolic and diastolic BP, body weight and height. There was a weak correlation between Na excretion and systolic BP (r = 0.18, 95% confidence interval 0.10-0.26), and between K excretion and systolic BP (r = 0.49, 95% CI = 0.04-0.20). Body weight was the variable that best correlated with systolic (r = 0.49, 95% CI = 0.43-0.55) and diastolic BP, and with Na excretion (r = 0.48, 95% CI = 0.42-0.55). Multiple regression analysis also showed that body weight was the variable that best correlated with systolic BP (b = 0.58), although the variables in the equation explained little of the total variability in BP (26%). These correlations were significant at P < 0.05. In conclusion urinary electrolytes correlated poorly with BP in a sample of Spanish schoolchildren. Body weight was the only variable that showed a weak relationship with BP and Na excretion.

Ileítis eosinofilica segmentaria secundaria a Anisakis / Secondary segmented eosinophilic ileitis resulting from Anisakis

El nematodo Anisakis es un parásito frecuente del pescado que infesta accidentalmente al hombre cuando éste consume pescado parasitado crudo o poco cocinado. Origina cuadros gástricos e intestinales agudos secundarios a la penetración localizada de la larva en la pared gastrointestinal. Presentamos un caso de ileítis eosinofílica segmentaria secundaria a Anisakis y asociada al consumo de boquerones en vinagre, práctica culinaria habitual en nuestro medio (AU)