Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.

Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.

[Treatment with bevacizumab in exudative age-related macular degeneration]. / Tratamentul cu bevacizumab în forma exudativa a DMLV.

OBJECTIVES: evaluation of the treatment with bevacizumab for advanced exudative AMD. MATERIAL AND METHOD: prospective study on 163 patients (December 2006-February 2009). All patients received a series of 3 intravitreal injections with bevacizumab (1.25 mg/0.05 ml) at 6 weeks intervals followed by surveillance and continuation or restart of therapy based on clinical criteria and central macular thickness (CMT). The series was subdivided in three groups based on initial VA (VA < or = 0, 1; VA = 0, 1-0, 3; VA > or = 0,3). RESULTS: Final VA increased or remained constant in 88% of patients. VA increased in all three groups: from 0.029 to 0.069 in the first group; from 0.152 to 0.245 in the second group; and from 0.409 to 0.612 in the third group. In all three groups the increase in VA achieved statistical significance (p < 0.001). The whole series manifested an anatomical improvement (final mean CMT of 243.3 microm, as compared to initial mean CMT of 345.3 microm). CONCLUSION: intravitreal treatment with bevacizumab is efficient but should be followed by aggressive follow-up and rapid resume of the treatment if recurrence is diagnosed.

[Acute posterior multifocal placoid pigmentary epitheliopathy--case report ]. / Epiteliopatie pigmentara placoida multifocala posterioara acuta--caz clinic.

We present a case of young female diagnosed with acute posterior multifocal placoid pigment epitheliopathy, presented with decreased visual acuity. Main differential diagnosis were discussed as well as some general data regarding the pathology of this relatively rare syndrome.