Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.

Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are: retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease. The onset of clinical manifestations is variable which makes the diagnosis difficult in some patients. Because of the multiple system involvement, a multidisciplinary approach is necessary. The purpose of this review is to provide monitoring and management directions for a better approach to these patients.

Statistical Analysis of the Main Risk Factors of an Unfavorable Evolution in Gastroschisis.

Gastroschisis is a congenital abdominal wall defect that presents an increasing occurrence at great cost for the health system. The aim of the study is to detect the main factors of an unfavorable evolution in the case of gastroschisis and to find the best predictors of death. METHODS: we conducted a retrospective cohort study of neonates with gastroschisis treated in a tertiary pediatric center during the last 30 years; 159 patients were eligible for the study. Logistic regression was used to determine the risk of death, estimated based on independent variables previously validated by the chi-square test. RESULTS: if the birth weight is below normal, then we find an increased risk (4.908 times) of evolution to death. Similarly, the risk of death is 7.782 times higher in the case of developing abdominal compartment syndrome, about 3 times in the case of sepsis and 7.883 times in the case of bronchopneumonia. All four independent variables contributed 47.6% to the risk of death. CONCLUSION: although in the past 30 years in our country we have seen transformational improvements in outcome of gastroschisis, survival rates increasing from 26% to 52%, some factors may still be ameliorated for a better outcome.

Multidisciplinary Management of Adolescents with Hidradenitis Suppurativa - Series of Cases and Literature Review.

Hidradenitis suppurativa (HS) is a recurrent chronic inflammatory condition of the skin with a debilitating potential, especially in adolescents who may experience psychosocial disorders and impaired quality of life. Recognition of typical, recurrent lesions, history of the disease and family investigation establishes the diagnosis. The rarity of the disease in males and the appearance of this condition in children, which is also rare, in two of our adolescent patients, respectively, are the reasons for publishing this article. We reviewed the literature and found that variation exists across international treatment for this HS, and much collaboration is needed to put forth unified and updated recommendations. It is of major importance that the early recognition of the condition and the establishment of treatment in the multidisciplinary team. Psychotherapy, health education, the adoption of a healthy lifestyle, the application of local prevention measures, and long-term medical treatment are components of a correct management. Extensive surgical treatment should be restricted only to severe cases because it may lead to complications, extend the hospitalization period and increase psychological problems in adolescents. The treatment will be personalized, performed according to the stage of evolution, and the approach will be a multidisciplinary one.