Diana Rudan

Inbreeding and risk of late onset complex disease

23 For example, a 4- 5% increase in childhood mortality has been found in the offspring of first cousin marriages, and similar results have been reported in other species. 245 However, the effects of inbreeding on late onset disorders are largely unknown, despite the fact that deleterious effects of inbreeding in other species are known to increase with age, as predicted by selection theory. 67 The reported finding of greater inbreeding effects for traits such as blood pressure and serum cholesterol in middle age compared with early adult life is consistent with this. 8

Improving the intake of nutritious food in children aged 6-23 months in Wuyi County, China -- a multi-method approach.

Aim To develop affordable, appropriate, and nutritious recipes based on local food resources and dietary practices that have the potential to improve infant feeding practices. Methods We carried out a mixed methods study following the World Health Organization’s evaluation guidelines on the promotion of child feeding. We recruited caregivers with children aged 6-23 months in Wuyi County, Hebei Province, China. The study included a 24-hour dietary recall survey, local food market survey, and development of a key local food list, food combinations, and recipes. Mothers tested selected recipes at their homes for two weeks. We interviewed mothers to obtain their perceptions on the recipes. Results The 24-hour dietary recall survey included 110 mothers. Dietary diversity was poor; approximately 10% of children consumed meat and only 2% consumed vitamin A-rich vegetables. The main reason for not giving meat was the mothers’ belief that their children could not chew and digest meat. With the help of mothers, we developed six improved nutritious recipes with locally available and affordable foods. Overall, mothers liked the recipes and were willing to continue using them. Conclusions This is the first study using a systematic evidence-based method to develop infant complementary recipes that can address complementary feeding problems in China. We developed recipes based on local foods and preparation practices and identified the barriers that mothers faced toward feeding their children with nutritious food. To improve nutrition practices, it is important to both give mothers correct feeding knowledge and assist them in cooking nutritious foods for their children based on locally available products. Further research is needed to assess long-term effects of those recipes on the nutritional status of children.

Effects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation

Abstract Isolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.

Three-dimensional echocardiography in unicuspid mitral valve

Cardiologia CROATICA Congenital malformation with absence of posterior mitral leaflet is extremely rare. A case of a 27-year-old woman with congenital malformation of unicuspid mitral valve is reported. To our knowledge, this is the first case of unicuspid mitral valve reported in Croatia. This report demonstrates that real-time three-dimensional (3D) echocardiography can be an optimal tool to evaluate congenital malformation of the mitral valve. Real-time 3D echocardiography is important in diagnosing heart valve diseases because it enhances the evaluation of morphologic abnormalities and improves understanding of complex relationships through more precise imaging and presentation of interrelations of different parts of the mitral apparatus. The downside of real-time 3D echocardiography is that it extends the time required for diagnostic procedure and it demands higher level of training of the examiner. In our patient, real-time 3D echocardiography revealed a complete absence of the posterior mitral leaflet. In absence of the posterior leaflet, the image was dominated by an elongated and thickened anterior mitral valve leaflet, accompanied with trivial mitral regurgitation. The subvalvular apparatus was anatomically normal, with appropriate chordal attachments and papillary muscles. There was no evidence of chamber enlargement or valvular dysfunctions. The patient was asymptomatic with normal function of unicuspid mitral valve. The prognosis of asymptomatic patients with unicuspid mitral valve is uncertain. As an example, annular dilatation can progressively impatr mitral regurgitation. For this reason such patients should undergo annual examination with transthoracic echocardiography to monitor progression of mitral regurgitation.

Fibroelastoma or atheromatous plaque: a case report

Cardiologia CROATICA Cardiac fibroelastoma is a rare, benign cardiac tumor. Usually, they arise from valvular endocardium and non-valvular location is rare. Although transthoracic echocardiography is sufficient for diagnosis of most cardiac tumors, small tumors may be missed. We describe an adult female patient who was clinically asymptomatic, but was submitted for the echocardiocraphic evaluation because of the high blood pressure. Transthoracic echocardiography showed a small lesion that was attached to the aortic wall near the aortic valve. In such a case, differential diagnosis consists of tumor, thrombus or atheromatous plaque and usually relies on localization of the structure and clinical presentation. In conclusion, echocardiography represents an invaluable diagnostic tool for the detection of intracardiac masses while it simultaneously provides information about their size, location, mobility and attachment site as well as the presence and extent of any consequent hemodynamic effects. However, it is almoust impossible to define tissue character using echocardiography alone, as in our case. Magnetic resonance imaging excels at making a differential diagnosis of various soft tissues and organs becuse of its high revolving power. According to the proper diagnosis the adequate treatment including conservative or surgical approach could be provided.

Ruptured aneurysm of the noncoronary sinus of Valsalva into the right atrium

2. Galicia-Tornell MM, Marin-Solis B, Mercado-Astorga O, Espinosa-Anguiano S, Martinez-Martinez M, Villalpando-Mendoza E. Sinus of Valsava aneurysm with rupture. Case report and literature review. Cir Cir. 2009;77:441-5. Aneurysms of sinus of Vasalva are rare cardiac abnormalities, with an incidence of less than 0.15%, and marked male predominance. They are dilatations of the aortic sinuses, and are classified as congenital or acquired. The congenital aneurysms are more common and often caused by weakness at the junction of the aortic media and the annulus fibrosus. They commonly coexist with other malformations such as ventricular septal defect, anomalies of the aortic valve and coarctaton of the aorta. Acquired aneurysms are caused by conditions affectng the aortic wall, such as infections, trauma, or connective tissue disorders. It may be asymptomatic, or it may present as angina, or with symptoms of valvular insufficiency. Once ruptured, it often produces hemodynamic instability. The frequency of ruptured sinus Valsalva aneurysm varies according to the location: 60% are located in the right sinus, 42% in the noncoronary sinus and 10% in the left sinus. According to the location and frequency, rupture of a sinus Valsalva aneurysm occurs principally in the right ventricle (60%) or in the right atrium (29%). Extracardiac ruptures are rare. When rupture is suspected, immediate diagnosis should be pursued with transthoracic echocardography. We present a case of 33-year-old man admitted to our emergency departament with symptoms of abdominal pain, abnormal liver function tests and new diagnosed heart murmur. On physical examination his blood pressure was 120/60 mmHg and heart rate of 95 bpm. Jugular venous distension was present. There were no pulmonic rales or signs of peripheral edema. On auscultation, there was continuous systolic-dyastolic murmor of grade III/IV, best heard at the apex. Chest X-ray showed cardiomegaly. Transthoracic echocardography showed dilatation of the left ventricle, reduced systolic function, dilatation of the right ventricle and left atrium, and noncoronary sinus Valsalva aneurysm ruptured in the right atrium. The aortic valve was three-leaflet, and had no insufficiency, no ventricular septal defecte was present. The patient underwent corrective surgery, confirming the aneurysm of noncoronary sinus valsava ruptured in the right cardiac chambers. The patient has been followed-up in our cardiology clinic with complete recovery.