Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.

Esophagectomy is the best therapy for the patients with locoregionally advanced esophageal cancer, but carries serious risks of associated morbidity and mortality. Esophageal anastomotic leak is a severe post-operative complication with a rate of mortality that can reach 60%. Clinical presentations of esophageal anastomotic leaks varies from asymptomatic to severe sepsis and death. The prognosis depends on the duration to diagnosis and the severity of contamination. An anastomotic esophageal leak has a great impact on the length of hospitalization, morbidity, stricture formation and dysphagia. The management of intrathoracic anastomotic leaks include conservative, surgical or endoscopic treatment, but the indication between these options of treatment remains controversial. [...]