First-degree relationships and genotyping errors deciphered by a high-density SNP array in a Duroc × Iberian pig cross.

BACKGROUND: Two individuals with a first-degree relationship share about 50 percent of their alleles. Parent-offspring relationships cannot be homozygous for alternative alleles (genetic exclusion). METHODS: Applying the concept of genetic exclusion to HD arrays typed in animals for experimental purposes or genomic selection allows estimation of the rate of rejection of first-degree relationships as the rate at which two individuals typed for a large number of Single Nucleotide Polymorphisms (SNPs) do not share at least one allele. An Expectation-Maximization algorithm is applied to estimate parentage. In addition, genotyping errors are estimated in true parent-offspring relationships. Samples from nine candidate Duroc sires and 55 Iberian dams producing 214 Duroc × Iberian barrows were typed for the HD porcine Affymetrix array. RESULTS: We were able to establish paternity and maternity of 75 and 85 piglets, respectively. Rate of rejection in true parent-offspring relationships was estimated as 0.000735. This is a lower bound of the genotyping error since rate of rejection depends on allele frequencies. After accounting for allele frequencies, our estimate of the genotyping error is 0.6%. A total of 7,744 SNPs were rejected in five or more true parent-offspring relationships facilitating identification of "problematic" SNPs with inconsistent inheritance in multiple parent-offspring relationships. CONCLUSIONS: This study shows that animal experiments and routine genotyping in genomic selection allow to establish or to verify first-degree relationships as well as to estimate genotyping errors for each batch of animals or experiment.

Pustulosis exantemática aguda generalizada inducida por diltiazem: presentación de un caso y revisión de la literatura / Diltiazem-Induced Acute Generalized Exanthemic Pustulosis: A Case

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Current lipid management and low cholesterol goal attainment in common daily practice in Spain. The REALITY Study.

OBJECTIVE: To evaluate prescribing patterns of lipid-lowering drugs used in management of patients at risk of coronary heart disease (CHD) in usual clinical practice in Spain and to assess low-density lipoprotein cholesterol (LDL-C) goal attainment among CHD and CHD equivalent patients (< 100 mg/dL) and non-CHD patients with two or more risk factors (< 130 mg/dL) who were prescribed lipid-lowering drugs. METHODS: Cohort study with retrospective chart review at 23 primary care centres and 16 lipid treatment centres across Spain (59% primary care; 41% outpatient lipid centres). Physicians consecutively identified eligible patients. Adults (aged > or = 18 years) with CHD/CHD equivalent or two or more major risk factors prior to first prescription of lipid-lowering drugs were eligible. Medical records were reviewed by physicians to collect patient characteristics, baseline and follow-up laboratory values and lipid-lowering drug treatment data. RESULTS: 619 patients (45.5% CHD and CHD equivalent patients and 54.5% non-CHD with two or more major risk factors) were included in the study with an average study follow-up of 3.6 years. Mean age was 60.1 years (SD 10.2), and 47.8% were female. Mean baseline LDL-C was 178 mg/dL (SD 45.0) for the CHD/CHD equivalent patients and 191 mg/dL (SD 56.95) for patients with two or more risk factors. Statins were the initial lipid-lowering drugs in 90.2% of patients; 52.5% of patients were initiated on low-dose (simvastatin 10mg or lower potency) statins. Overall 20.2% of CHD/CHD equivalent and 31.4% of patients with two or more risk factors attained LDL-C goal during the study period; of patients not attaining goal, 28.7% required an additional LDL-C reduction of > 30% to attain goal. In a logistic regression model for goal attainment, CHD/CHD equivalent patients (odds ratio [OR] 0.47; 95% confidence interval [CI] 0.31, 0.72) and patients with baseline LDL-C > 190 mg/dL (OR 0.53; 95% CI 0.35, 0.80) were least likely to reach cholesterol goal when compared with patients having baseline LDL-C > 100 mg/dL and < 130 mg/dL. CONCLUSION: Only 12.9% of patients attained LDL-C goal on their initial lipid-lowering drugs, and an additional 13.4% achieved goal after a change in their lipid-lowering therapy, resulting in 73.7% of patients not attaining goal after at least 3 years of follow-up, after initiation of lipid-lowering therapy. Patients who would gain the most from aggressive lipid lowering (CHD patients and patients with high baseline LDL-C) were least likely to achieve goal. More effective lipid management is needed to help these patients lower their cholesterol to goal levels or even lower.

Riesgo cardiovascular absoluto en hipertensos y su evolución con el tratamiento antihipertensivo / Absolute cardiovascular risk in hypertensive patients and evolution with antihypertensive treatment

El control de los factores de riesgo es la clave para la prevención primaria de las enfermedades cardiovasculares, por ello el concepto de riesgo cardiovascular absoluto debería ser la guía para iniciar el tratamiento antihipertensivo. El objetivo de este estudio fue calcular el riesgo cardiovascular absoluto para ictus y cardiopatía isquémica basal y tras un año de intervención médica en dos poblaciones de hipertensos: en asistencia primaria (CS) y en la Unidad de Hipertensión de referencia (UH). Material y métodos. Se realizó un estudio retrospectivo en el que se realizaron dos cortes transversales con un año de intervalo en los mismos pacientes. Utilizamos las tablas de predicción de riesgo del Framingham Heart Study, expresándolo como probabilidad porcentual de padecer incidente en 10 años. Se valoraron un total de 216 pacientes, 105 de la UH y 111 del CS. Resultados. Los pacientes de la UH presentan mayor riesgo absoluto basal tanto para ictus como para cardiopatía isquémica que los de CS. Con la práctica clínica habitual en el paciente hipertenso el riesgo de ictus se redujo significativamente en la UH (15,1 ñ 12,8 frente a 11,7 ñ 4,3, p < 0,05), pero no en el CS (11,7 ñ 10,5 frente a 9,6 ñ 7,9). La reducción del riesgo absoluto de cardiopatía isquémica fue significativa tanto en la UH como en el CS (19,4 ñ 12 frente a 16,5 ñ 12, p < 0,01 en la UH, y 18 ñ 10 frente a 14,8 ñ 9,5, p < 0,05 en CS). Conclusión. El tratamiento de la hipertensión arterial reduce los niveles de presión arterial y también el riesgo cardiovascular tanto en pacientes con riesgo menos elevado como son los del CS como en pacientes de mayor riesgo cardiovascular como son los remitidos a la UH. La utilización de un método de medida del riesgo es importante para conocer tanto el riesgo inicial del paciente y valorar la eficacia de la actuación médica (AU)

[An analysis of the referrals of primary care physicians to a hospital hypertension unit]. / Análisis de la derivación de médicos de atención primaria a una unidad de hipertensión hospitalaria.

OBJECTIVES: To describe the referral of hypertense patients from primary care to a hospital arterial hypertension unit, the quality of the information sent and the profile of the referred patients. DESIGN: A descriptive crossover study. SETTING: The Hospital Clínico of San Carlos in Madrid. PATIENTS AND OTHER PARTICIPANTS: A simple random sample of 368 clinical records belonging to patients attended at the unit over the last 3 years. MEASUREMENTS AND MAIN RESULTS: 54.6% of patients were referred from primary care. 48.9% of the interclinical (IC) notes were high-quality, with 28.7% acceptable. 36.8% of referrals were considered incorrect, 30.3% because of false unresponsiveness to treatment. Good or acceptable IC notes were associated with 94.1% of correct referrals and only 65.4% of incorrect referrals. CONCLUSIONS: A high proportion of referrals which were incorrect by the consensus criteria were detected and were caused by inadequate or insufficient medical treatment. There was a statistically significant relationship found between correct referrals and the quality of information sent in the IC note.

[Atypical internuclear ophthalmoplegia in a patient with subacute lymphocytic meningitis]. / Oftalmoplejía internuclear atípica en un paciente con meningitis linfocitaria subaguda.

The local expression of tuberculous meningitis has an high incidence. They respond to a Koch bacillus direct lesion or vasculitis disease. The clinic implication of ocular movement is frequent and usually answers to a nervous trunk direct injury. Exceptionally the clinic expression of the oculomotor disturbance is due to a conjugate ocular tract or nucleus damage. The posterior internuclear ophthalmoplegia is a well-known manifestation and correspond with a dwindle of the medial longitudinal fasciculus electrical transmission and lies in falling of the medial rectus to move synchronously with the contralateral rectus on attempted lateral gaze to either side. In such a case the medial longitudinal fasciculus is damaged between the sith nerve nucleous below and the opposite third nerve nucleus above. A patient with AIDS B3 category who presents right internuclear ophthalmoplegia and right eye vertical conjugate gaze impairment with left vertical nystagmus due to a paramedial mesencephalic stroke as debut of a linfocitary subacute meningitis is present.

[Infectious diseases in primary care]. / Patología infecciosa en atención primaria.

OBJECTIVE: To find the frequency and seasonal variability of the infectious diseases detected over a year. DESIGN: Observational prospective study. SETTING: Primary care centre. PATIENTS: Simple multi-stage random sampling of the patients over 14 seen on demand at general medical clinics and the Casualty department between June 1991 and May 1992. MEASUREMENTS AND MAIN RESULTS: Out of 49,193 attendances during the study period, the attendance sample was 2,523, of which 474 (18.8%; CI: 17.3-20.3%) were for infectious conditions. Average age of these 474 was 39 (SD: 19.17); 55% were women. Frequency of respiratory infections was 64.1% (CI: 59.8-68.5%). The correlation coefficient between respiratory infections and the total number of infections was 0.94 (R2 = 0.89). The frequency of infections oscillated between 29% (CI: 23-35%) in February and 10% (CI: 5.8-14.5%) in May. CONCLUSIONS: Infectious conditions account for a considerable percentage of the total number of primary care attendances. There is a seasonal variation in infections, which is mainly due to respiratory infections.

[Tubercular disease in a general hospital. Apropos of 445 cases]. / Enfermedad tuberculosa en un hospital general. A propósito de 445 casos.

Four hundred and forty-five patients diagnosed of active thoracic or extrathoracic tuberculosis during a 6 year period were retrospectively reviewed. An increase in the rate of cases was found through the surveyed period. Less than 20% of patients were over 60 years of age at the time of diagnosis. Although the most common localizations were pulmonary and pleural, the disease was exclusively extrathoracic in one fifth of patients. Ten patients died of tuberculosis; 9.6% of patients had untoward side effects of tuberculostatic drugs and 14% did not comply with the scheduled follow up.

[Myocardial infarction in hyperthyroidism (author's transl)]. / Infarto de miocardio en el hipertiroidismo.

Three patients with untreated hyperthyroidism at the time of admission are reported. Two of them were young women with myocardial infarction and no significant lesions of the coronary arteries, and the third was a male with a prior history of Prinzmetal's variant angina with ventricular fibrillation. Emphasis is made on the fact that the association of hyperthyroidism and ischemic cardiomyopathy is well known but infrequent. Finally, a comment is made on the possible mechanisms of occlusion of a coronary artery in this situation, namely vasospasm, embolism with later recanalization, or the direct effect of thyroid hormones on the factors determining myocardial oxygen consumption.

[Acute intermittent porphyria versus porphyria variegata: a diagnostic uncertainty (author's transl)]. / Porfiria aguda intermitente versus porfiria variegata: una incertidumbre diagnóstica.

The authors study a case of acute porphyria in a young woman who was taking oral contraceptives and who began having abdominal pain and bilateral radial paralysis with neuropsychic disorders. The quantitative and chromatographic analyses of urine, feces, and liver porphyrins revealed a pattern of excretion compatible but not definite of porphyria variegata, making this an example of porphyria of difficult noslogic placement. The problems of classification, the action of the contraceptive drugs as probable triggering agents (of the clinical picture) by means of their action on the ALA-synthetase, the rare form of neuropathy, and the rarity of these types of porphyrias in our country are analyzed and discussed. The patient did not present the endocrine-metabolic disorders that are commonly evidenced in these cases.

PIP: The article reports on the case of a 27 year old woman on oral contraceptives who developed abdominal pain, bilateral radial paralysis, and neuropsychic disorders, the classic symptoms of acute, intermittent porphyria. Complete laboratory analyses and tests revealed a pattern of disease similar but not equal to that of porphyria variegata; also, the endocrin and metabolic disorders were not those common in porphyria variegata. Both types of porphyria are very infrequent cases in Spain; the problem of diagnosis, and of the possible influence of oral contraceptives are discussed.