[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.

[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.

[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.

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.

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.

Pulmonary valve insertion during reoperation for tetralogy of Fallot.

Our experience with pulmonary valve insertion during reoperation for residual lesions after initial open repair of tetralogy of Fallot in 15 patients is reported. Preoperatively, 14 patients were in moderate to severe congestive heart failure, and all 15 had decreased right ventricular (RV) function at cardiac catheterization. All 15 patients had pulmonary insufficiency but not as an isolated finding. The most common residual lesions encountered were ventricular septal defect in 9, tricuspid insufficiency in 11, and peripheral pulmonary arterial stenosis in 6. Tissue valves were inserted in all patients. Mean peak RV-left ventricular pressure ratio measured in the operating room decreased from 0.61 +/- 0.10 (+/- the standard deviation) to 0.47 +/- 0.17 (p less than 0.05). There were no operative deaths. At follow-up (mean, 33 months), all but 1 patient were in New York Heart Association Class I or II. Pulmonary valve insertion should be considered during reoperation for tetralogy of Fallot when pulmonary insufficiency and RV failure are present.

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.

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.

Tricuspid valve papillary fibroelastoma: echocardiographic characterization.

We report a tricuspid valve papillary fibroelastoma initially detected by transthoracic two-dimensional echocardiography and subsequently characterized by transesophageal two-dimensional echocardiography. The mass was excised during open heart operation, and the diagnosis was verified grossly and histopathologically. Transesophageal echocardiography usually provides images far superior to those from transthoracic echocardiography and may be a useful adjunct for intraoperative localization of intracardiac tumors for excision.

Pedunculated left ventricular rhabdomyoma.

A patient with an unusual left ventricular outflow tract obstruction caused by a solitary pedunculated left ventricular rhabdomyoma is described. Diagnosis was based on two-dimensional echocardiographic findings alone. The obstructive portion of the tumor was successfully removed from the interventricular septum by an aortic root approach.

Evaluation of arterialized vein graft permeability with Evans blue dye and iodine 125-labeled albumin.

This study measured endothelial permeability, quantitatively (with iodine 125-labeled albumin) and qualitatively (with Evans blue dye) in arterialized vein grafts in 9 adult dogs. In each dog, the right common carotid artery was ligated and arterial flow was reconstituted with a 5-cm bypass graft of right external jugular vein. Twenty-four hours before the dogs were killed, each dog received both 125I-labeled albumin (8 microCi/kg) and Evans blue dye (15 mg/kg) intravenously. After the dogs' death, each arterialized vein graft and each left external jugular vein (as control) was harvested and studied. Arterialized vein graft permeability was significantly increased over control at 1, 3, and 6 months (3 dogs at each interval). Scanning electron microscopy revealed confluent endothelium in all specimens. This increased permeability may play a role in vein graft atherosclerosis.

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.

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.

A case report of segmental bronchial atresia: radiologic evaluation including computed tomography and magnetic resonance imaging.

Bronchial atresia is a rare anomaly that characteristically presents with a pulmonary nodule and hyperinflation of the lung distal to the nodule. To make this diagnosis definitively, invasive studies have been required. Now with the combined use of computed tomography and magnetic resonance imaging, a diagnosis can be made without resorting to invasive techniques. This article describes a case of bronchial atresia illustrating the noninvasive approach.

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.

Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites?

A boy with MCA/MR and a fragile site (FS) at 8q22 opens the discussion of a possible association between a rare autosomal FS and an abnormal phenotype. The child was born after prenatal diagnosis of ureterohydronephrosis. He had facial dysmorphia and mental retardation (IQ = 40). The karyotype showed 8q22 FS in 12% of the cells obtained after addition of FUdR to the culture medium. No other etiologic factor was shown to be responsible for the MCA/MR syndrome. Several authors have reported a variety of neurodevelopmental abnormalities and mental retardation in individuals with rare FS expressed on chromosomes 2, 9, 10, 16 and 19. If rare FS predispose to phenotypic abnormalities what are the mechanisms?

[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.