Frasier syndrome (FS)

Review on Frasier syndrome (FS), with data on clinics, and the genes involved

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms

Simultaneous atelectasis in human bocavirus infected monozygotic twins: was it plastic bronchitis?

BACKGROUND: Plastic bronchitis is an extremely rare disease characterized by the formation of tracheobronchial airway casts, which are composed of a fibrinous exudate with rubber-like consistency and cause respiratory distress as a result of severe airflow obstruction. Bronchial casts may be associated with congenital and acquired cardiopathies, bronchopulmonary diseases leading to mucus hypersecretion, and pulmonary lymphatic abnormalities. In recent years, however, there is growing evidence that plastic bronchitis can also be triggered by common respiratory tract infections and thereby cause atelectasis even in otherwise healthy children. CASE PRESENTATION: We report on 22-month-old monozygotic twins presenting with atelectasis triggered by a simple respiratory tract infection. The clinical, laboratory, and radiographic findings given, bronchial cast formation was suspected in both infants but could only be confirmed after bronchoscopy in the first case. Real-time polymerase chain reaction of the removed cast as well as nasal lavage fluid of both infants demonstrated strong positivity for human bocavirus. CONCLUSION: Our case report is the first to describe two simultaneously affected monozygotic twins and substantiates the hypothesis of a contributing genetic factor in the pathophysiology of this disease. In this second report related to human bocavirus, we show additional evidence that this condition can be triggered by a simple respiratory tract infection in previously healthy infants

The Role of Big Data in Addressing Societal Challenges: A Systematic Mapping Study

Big data has recently become the focus of academic and corporate investigation due to its high potential in generating business and social value. We have done a systematic mapping of the literature related to big data and its applications leading to social change through the lens of social innovation. The search strategy initially resulted in 593 papers, and after applying inclusion exclusion criteria a total of 156 papers were mapped; 59% of which were identified as empirical studies. This mapping investigated the publication frequency of the studies, research approach and contributions, research areas and article distribution per journal. We also address some challenges found from the mapping associated with the research topic. This mapping study will offer the basis for a reflection process among the researchers in this field and will allow us to develop a research agenda and roadmap of big data and its applications leading to social change