[Strengthen the prevention and health promotion in a science-based way--Results and experience of the German National Prevention Research Initiative]. / Prävention und Gesundheitsförderung wissenschaftsbasiert stärken--Ergebnisse und Erfahrungen des BMBF-Förderschwerpunkts Präventionsforschung.

From 2004 to 2013, the German Ministry of Education and Research (BMBF) established its first funding programme for the promotion of prevention research. Objectives of this programme were the prevention of widespread health risks and diseases and to reinforce health promotion. Within this programme, 4 phases concentrated on socially disadvantaged target groups and on methodical and structural challenges relating to prevention/ health promotion. The projects covered evaluating the effectiveness of existing or newly-designed measures, developing and testing new concepts, programmes and access routes. Furthermore, the projects should contribute to the development of methods. The umbrella project "Kooperation für nachhaltige Präventionsforschung" (KNP-Cooperation for sustainable prevention research) was set up in 2009 to support the meaningful processing and application of key knowledge from this BMBF funding focus on prevention research and to promote networking between science, practice, and politics.

[Transfer of Preventive Interventions into Health Care Provision]. / Präventive Maßnahmen transferieren--In Versorgungspraxis überführen.

Successful transfer of evidence based prevention programs and interventions in health care is a precondition for improvement of public health. The BMBF research focus on prevention contained substantial transfer experiences that have been analysed. As a result, a set up of a new research focus including specific methodology was recommended. The paper summarizes the KNP transfer results.

[Diagnosis of chronic retinal detachment following the discovery of a crystalline retinopathy]. / Diagnostic d'un décollement chronique de rétine dans le cadre d'une rétinopathie crystalline.

Crystalline retinopathy is a rare complication of chronic retinal detachment. The observation of crystalline retinal deposits should prompt the search for a chronic retinal detachment. The composition of these crystals is unknown. Some other crystals can be found in other diseases or with drug toxicity. It is essential to make the differential diagnosis and to determine the actual etiology

Depression predicts self-reported disease activity in systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is an autoimmune disease that can significantly impact both physiological and psychological functioning. In order to examine the relationship between psychological functioning and disease activity in SLE, we administered instruments that collected sociodemographic information and measured indices of disease activity and psychosocial functioning from 125 adult Hispanic and White patients with SLE. Patients were recruited from four healthcare settings in the greater Southern California area. Both cross-sectional and longitudinal relationships between depression and disease activity were evaluated. Cross-sectional findings revealed that depression and ethnicity were independently correlated with self-reported disease activity. Longitudinally, depression alone predicted self-reported disease activity. These data suggest that depression may play a significant role in the health status of SLE patients and serve as an important target for clinical intervention.

Noninvasive methods of diagnosing thoracic splenosis.

Thoracic splenosis is a rare condition resulting from concomitant rupture of the spleen and left hemidiaphragm, with autotransplantation of splenic tissue into the left hemithorax. It is usually an incidental finding on chest plain film or computed tomogram and is rarely diagnosed without biopsy or operation. A history of old splenic trauma and findings of left-sided, pleural-based nodules should indicate the diagnosis, which can be confirmed with nuclear medicine studies.

Myxoma of the left atrial appendage mimicking thrombus during aortic valve replacement.

Echocardiographic characterization of cardiac masses involving the left atrium are defined by morphologic shape and appearance, site of attachment, type of margins, and presence or absence in the left atrial appendage. Most reports use location in the LAA as strong supportive evidence of thrombus, especially if associated with other suggestive findings (i.e., atrial fibrillation, spontaneous echo contrast, or both). Other reported masses (non-thrombi) in the left atrial appendage are considered extremely rare. We report a case of a patient with coexisting aortic stenosis and atrial fibrillation diagnosed intraoperatively by transesophageal echocardiography with myxoma of the left atrial appendage.

[Anomalies of thyroid function in children with Down syndrome]. / Anomalies du fonctionnement thyroïdien des enfants trisomiques 21.

BACKGROUND: Abnormal thyroid function was shown in children with Down syndrome (DS). This study was undertaken in order to specify these anomalies. POPULATION AND METHODS: Thyroid function of 105 children with DS aged from 3 months to 20 years was studied by evaluation of serum concentration of thyrotropin, free T4 (FT4), free T3 (FT3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. RESULTS: The mean concentration of thyrotropin of children with DS was increased while the mean concentration of rT3 of the DS children was significantly decreased compared with the controls, as was the ratio rT3/TSH. When DS children are split into two groups, those with and those without increased thyrotropinemia, a significant decrease in the ratio rT3/TSH appeared in DS children with increased thyrotropinemia whereas there is no difference between these two groups regarding to level of FT4, FT3, rT3 and zincemia. However, in all DS children serum zinc levels were lower than in controls. Thyrotropin levels rapidly normalized after thyroxin treatment. CONCLUSION: One half of the children with DS have increased thyrotropinemia and all have a decreased rT3.

Valve replacement in aortic stenosis with preoperative mean gradient < 50 mmHg: hemodynamic outcome.

BACKGROUND AND AIMS OF THE STUDY: No prior studies have defined pre- versus postoperative hemodynamics of large numbers of patients with low mean transvalvular gradients. This was our objective. METHODS: Retrospective analysis was undertaken of preoperative and postoperative echo/Doppler data in 294 patients who underwent aortic valve replacement (AVR) for aortic stenosis (AS). Some 136 patients had a preoperative mean gradient of < 50 mmHg. The relationship of preoperative to pre- minus postoperative (delta) mean gradient (GRAD), peak valvular velocity (V2), left ventricular outflow tract velocity (V1), V1/V2 ratio, V2-V1, and aortic valve area (AVA) were plotted and analyzed such that a 'zero-benefit threshold' from surgery could be estimated. RESULTS: Strong relationships (r > 0.80) were noted for GRAD to delta GRAD, V2 to delta V2, and (V2-V1) to delta (V2-V1) with zero-benefit thresholds of 16 mmHg for GRAD, 2.6 m/s for V2 and 1.7 m/s for V2-V1. These thresholds were lower in patients who received homografts (11 mmHg, 2.2 m/s, and 1.1 m/s respectively), p < 0.02. The relationship of pre operative V1/V2 to delta V1/V2 and AVA-delta AVA were weaker (r = 0.52 and 0.33 respectively) with zero-benefit thresholds of 0.41 and 2.0 cm2. Among patients with depressed preoperative fractional shortening, improvement was confined to those without coexistent coronary artery disease. CONCLUSION: This analysis of thresholds of mean gradient benefit suggests that most patients with low gradient AS improve hemodynamically from AVR. The hemodynamic 'break-even' point averages a mean gradient of 16 mmHg.

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both the expansion and methylation status can be determined on a single EcoRI digest, because of the presence of a methylation-sensitive EcoRI site very close to the CCG repeat. We thus detected in a series of mentally retarded individuals previously tested for FRAXA expansion a FRAXE proband who led to the identification of a large sibship (7 of 10 children carrying a mutation). We also show that two fragile X families without FRAXA mutation that previously have been described by Oberlé et al. have the FRAXE expansion. In another family also ascertained initially by cytogenetic finding of a fragile X site, we performed the combined cytogenetic and molecular prenatal diagnosis of a mutated male fetus. All nine males (>3 years old) in whom we found a methylated mutation had mild mental retardation. Our results suggest that the threshold of repeat length for abnormal methylation and fragile-site expression may be smaller at FRAXE than at FRAXA.

Coronary artery bypass grafting in patients with chronic lymphocytic leukemia.

Chronic lymphocytic leukemia is a disease of the elderly. It tends to have a variable clinical course. Because of the patients' immunologically dysfunctional state, there has been reluctance to perform open cardiac procedures because of concern about early postoperative sepsis leading to death. To assess the risk of coronary artery bypass grafting in elderly patients, the records of 26 patients (mean age, 69.6 +/- 4.9 years) with chronic lymphocytic leukemia who underwent coronary artery bypass grafting between January 1975 and July 1990 were retrospectively reviewed. Nineteen underwent isolated coronary artery bypass grafting, and 7 had combined procedures. The operative mortality rate was 7.7%. Postoperative infections developed in 6 patients (23.1%): pneumonia in 3 and sternal osteomyelitis, acute parotiditis, and bacteremia in 1 each. One of these 6 patients died of acute Serratia pneumonitis. Twenty-four patients (92.3%) were discharged from the hospital an average of 10.6 +/- 7.7 days postoperatively. Patients with chronic lymphocytic leukemia can undergo coronary artery bypass grafting with acceptable mortality but with increased risk of postoperative infection.

MR imaging in the evaluation of benign uterine masses: value of gadopentetate dimeglumine-enhanced T1-weighted images.

Forty-six patients with surgically proved disease (115 leiomyomas, 19 cases of adenomyosis, and 14 endometrial polyps) were studied to determine if gadopentetate dimeglumine-enhanced T1-weighted MR images improve the detection and characterization of benign tumors of the uterus. Lesion detection and characterization were assessed separately for each sequence (unenhanced T1-weighted, proton-density-weighted, and T2-weighted and contrast-enhanced T1-weighted images) and for combinations of sequences (unenhanced T1- and T2-weighted images, unenhanced and contrast-enhanced T1-weighted images, and unenhanced T1- and T2-weighted and contrast-enhanced T1-weighted images). In the evaluation of leiomyomas, analysis of all three sequences provided the best detection (92%) and characterization (92%), but the improvement, except when compared with unenhanced T1-weighted images alone, was not statistically significant. The use of contrast medium did not contribute to either tumor detection or characterization. In the evaluation of adenomyosis, T2-weighted images provided significantly better lesion detection and characterization than did either unenhanced or contrast-enhanced T1-weighted images. In the evaluation of endometrial polyps, however, contrast-enhanced T1-weighted images provided significantly better lesion detection and characterization than did unenhanced images. With contrast-enhanced images, the detection rate was 79%, compared with 36% for T2-weighted images and 7% for T1-weighted images. Lesion characterization was the best (73%) when all imaging sequences were analyzed. Our study shows that with conventional spin-echo sequences, the use of contrast-enhanced T1-weighted images does not improve the detection or characterization of uterine leiomyomas or adenomyosis but significantly improves the detection of endometrial polyps.

Evaluation of prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.

Constrictive pericarditis and restrictive cardiomyopathy: evaluation with MR imaging.

Twenty-nine patients who were referred with the possible diagnosis of constrictive pericarditis underwent electrocardiographically gated transverse spin-echo magnetic resonance (MR) imaging to determine the accuracy of spin-echo MR imaging for the diagnosis of constrictive pericarditis and to compare the morphologic features of constrictive pericarditis with those of restrictive cardiomyopathy as seen on spin-echo MR images. Constrictive pericarditis was verified by means of surgery and/or catheterization in 17 patients. The sensitivity, specificity, and accuracy of MR imaging in the diagnosis of constrictive pericarditis were 88%, 100%, and 93%, respectively. Thickened pericardium was observed in 88% of patients with proved constrictive pericarditis. Pericardial thickening was not identified in patients with restrictive myocarditis (n = 4). The most frequent site of pericardial thickening was over the right ventricle. In constrictive pericarditis, the signal intensity of the thickened pericardium was similar or decreased compared with that of the myocardium. Indirect findings of impaired right ventricular diastolic filling (eg, dilatation of the inferior vena cava and right atrium) were identified in constrictive pericarditis and restrictive cardiomyopathy. MR imaging can serve as a noninvasive examination for the definitive diagnosis of constrictive pericarditis and can help distinguish between constrictive pericarditis and restrictive cardiomyopathy on the basis of pericardial thickness.

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.

Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.

Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy.

A girl with pancytopenia (hemoglobin 9 g. 2,000 PMN. 75,000 platelets) was examined at 23 years of age. She had microcephaly, facial dysmorphy, skeletal deformities (kypho-scoliosis, club feet, club hands) and mental retardation. Puberty was normal, Roentgenograms showed bilateral agenesia of the distal part of the ulna with dislocation of the head of the radius. No other skeletal parts were absent. The condition is probably due to an autosomal recessive gene, the parents being second cousins.

[Congenital malformations in a series of 131,760 consecutive births during 10 years]. / Malformations congénitales observées dans une série de 131,760 naissances consécutives pendant 10 ans.

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. The results of the first 10 years of functioning of this register are presented after description of the objectives and methodology used. 131,760 consecutive births were analysed: 2.66% of infants presented with malformations. The most frequent malformations consisted of congenital heart defects (11.6%). The increase in incidence of congenital malformations was not the result of an absolute increase in malformations but to improvement of prenatal and postnatal diagnosis allowed by the technical progress in this field. In utero diagnosis of congenital malformations, especially of multiple malformations, was more and more often performed.

Right-to-left shunt across a patent foramen ovale caused by cardiac tamponade: diagnosis by transesophageal echocardiography.

Cardiac tamponade can manifest as profound hypoxemia from intracardiac shunting across a patent foramen ovale. As a consequence, pulmonary embolus can be erroneously diagnosed. As demonstrated in the case described herein, transesophageal echocardiography can be useful in determining the correct diagnosis, especially if transthoracic echocardiography is technically limited. In our patient, the findings on transesophageal echocardiography also helped determine the appropriate treatment. The relative inaccessibility of the pericardial effusion to needle drainage prompted open surgical drainage.