ABSTRACT
Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis. Only a few cases of WS have been described in the literature worldwide. It has recently been shown to be caused by mutation in the gene encoding matrix metalloproteinase-2 (MMP2). We report a patient affected by WS with a proven mutation of the MMP2 gene and describe the progression of radiological findings over a 23-year period. To our knowledge there is no comparable article concerning the WS in the literature.
Subject(s)
Bone and Bones/diagnostic imaging , Osteolysis/diagnostic imaging , Abnormalities, Multiple/diagnostic imaging , Contracture/diagnostic imaging , Corneal Opacity/diagnostic imaging , Disease Progression , Female , Growth Disorders/diagnostic imaging , Humans , Male , Osteoporosis/diagnostic imaging , Radiography , Young AdultABSTRACT
QUESTION OF THE STUDY: We studied whether prophylactic use of noninvasive pressure support ventilation (NIPSV) administered pre- and postoperatively may reduce the postoperative pulmonary function impairment. PATIENTS AND METHODS: Prospective randomized clinical trial. Thirty-nine patients with a preoperative FEV(1) <70% of the predicted value scheduled for elective lobectomy related to lung cancer were enrolled. Seven patients were excluded after enrollment. Patients were required to follow standard treatment without (control group, n=18) or with NIPSV (study group, n=14) during 7 days at home before surgery, and during 3 days postoperatively. Primary outcome variable was the changes on arterial blood gases on room air. RESULTS: Two hours after surgery, PaO(2), FVC and FEV(1) values were significantly better in the NIPSV group. On day 1, 2 and 3, PaO(2) was significantly improved in the NIPSV group. Also on day 1, FVC and FEV(1) improved significantly in the NIPSV group. The hospital stay was significantly longer in the control group than in the study group (p=0.04). The incidence of major atelectasis was 14.2% in the NIPSV group and 38.9% in the no-NIPSV group (p=0.15). ANSWER TO THE QUESTION: Prophylactic use of NIPSV in a pre- and postoperative manner significantly reduces pulmonary dysfunction after lung resection. As a result, recovery of preoperative respiratory function is accelerated.
