@article {8332, title = {Chronic nonbacterial osteomyelitis may be associated with renal disease and bisphosphonates are a good option for the majority of patients.}, journal = {Acta Paediatr}, volume = {105}, year = {2016}, month = {2016 Jul}, pages = {e328-33}, abstract = {

AIM: The aim of this Italian study was to describe the clinical features, treatment options and outcomes of a cohort of patients with chronic nonbacterial osteomyelitis (CNO).

METHODS: This was a retrospective cohort study. Laboratory data, diagnostic imaging, histological features and clinical course are reported.

RESULTS: We enrolled 47 patients diagnosed with CNO. Bone pain was the leading symptom, and multifocal disease was present in 87\% of the patients. The majority of the bone lesions were located in the appendicular skeleton (58\%). Extraosseous manifestations were present in 34\% of the patients, and renal involvement was detected in four patients. Inflammatory indices were increased in 80\%, and bone x-rays were negative in 15\% of the patients. Nonsteroidal anti-inflammatory drugs (NSAIDs) were the first therapy for all patients, achieving clinical remission in 27\%. A good response to NSAIDs was significantly associated with a better prognosis. Bisphosphonates were used in 26 patients, with remission in 73\%. Only six patients (13\%), all with spine involvement, developed sequelae.

CONCLUSION: We found a possible association between CNO and renal disease. Bisphosphonates were more likely to lead to clinical remission when NSAIDs and corticosteroids had failed. Vertebral localisation was the only risk factor for potential sequelae.

}, issn = {1651-2227}, doi = {10.1111/apa.13420}, author = {Pastore, Serena and Ferrara, Giovanna and Monasta, Lorenzo and Meini, Antonella and Cattalini, Marco and Martino, Silvana and Alessio, Maria and La Torre, Francesco and Teruzzi, Barbara and Gerloni, Valeria and Breda, Luciana and Taddio, Andrea and Lepore, Loredana} } @article {1660, title = {A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.}, journal = {Ophthalmic Genet}, volume = {31}, year = {2010}, month = {2010 Jun}, pages = {98-100}, abstract = {

PURPOSE: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. The mutated gene implicated is FOXC2, which encodes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis. Other associations have been reported, including congenital heart disease, ptosis, scoliosis.

CONCLUSIONS: Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis.

}, keywords = {Abnormalities, Multiple, Adolescent, Eye Abnormalities, Eyelashes, Face, Forkhead Transcription Factors, Frameshift Mutation, Humans, Lymphedema, Male, Syndrome}, issn = {1744-5094}, doi = {10.3109/13816811003620517}, author = {Fabretto, Antonella and Shardlow, Alison and Faletra, Flavio and Lepore, Loredana and Hladnik, Uros and Gasparini, Paolo} }