A basal cell nevus syndrome, known as the Gorlin syndrome, is a rare autosomal dominant disorder, occuring especially in the oriental population. It is a complex hamartomatous/neoplastic syndrome with multisystemic manifestations involving the five major features: (1) multiple basal cell nevi, occasionally basal cell carcinoma usually seen at an early age; (2) multiple jaw cysts; (3) skeletal abnormalities of ribs, skull, and spine; (4) ectopic calcification; (5) palmar and plantar pits. Because patients are predisposed to this disorder prior to basal cell carcinoma of the skin, ovarian fibroma, and medulloblastoma, the most important aspects of management is frequent examination and early treatment of small tumors. We report here about a 16-year- child with odontogenic maxillary sinusitis, who has developmental multisystemic disorders which coincided with the basal cell nevus syndrome. The patient underwent a sinus operation and now is under a cautious follow-up.
Basal Cell Nevus Syndrome* ; Carcinoma, Basal Cell ; Child ; Fibroma ; Follow-Up Studies ; Humans ; Jaw Cysts ; Maxillary Sinus* ; Maxillary Sinusitis* ; Medulloblastoma ; Nevus ; Ribs ; Skin ; Skull ; Spine

Supravalvular aortic stenosis is an uncommon congenital narrowing of the ascending aorta that may be localized or diffuse, originating at the superior margin of the sinuses of Valsalva just above the level of the coronary arteries. The most common complication of supravalvular aortic stenosis is early onset of intimal hyperplasia and atherosclerosis of the coronary arteries. The coronary arterial lesions of supravalvular aortic stenosis are dilatation or coronary artery ostial obstruction. We experienced a case of supravalvular aortic stenosis combined with right coronary artery ostial obstruction. A 21 year-old female patient was admitted because of exertional dyspnea and chest pain for 2 months. Cardiac catheterization showed a narrowing of ascending aorta with prominent calcification in the lesion and moderate aortic valve insufficiency. The peak to peak left ventricular-supravalvular aortic pressure gradient was 54 mmHg. Selective coronary angiography revealed as a complete obstruction of the ostium of the right coronary artery. Surgical correction was performed successfully. Postoperative left ventricular-supravalvular aortic pressure gradient was decreased to 22 mmHg. Postoperative clinical course was favorable and she was discharged with good condition. We present a case of supravalvular aortic stenosis combined with right coronary artery ostial obstruction with a review of literatures.
Aorta ; Aortic Stenosis, Supravalvular* ; Aortic Valve Insufficiency ; Arterial Pressure ; Atherosclerosis ; Cardiac Catheterization ; Cardiac Catheters ; Chest Pain ; Coronary Angiography ; Coronary Vessels* ; Dilatation ; Dyspnea ; Female ; Humans ; Hyperplasia ; Young Adult

Purpose: The aim of this study is to evaluate the safety and efficacy of ex vivo activated and expanded natural killer (NK) cell therapy (SNK01) plus pembrolizumab in a randomized phase I/IIa clinical trial. Materials and Methods: Overall, 18 patients with advanced non–small cell lung cancer (NSCLC) and a programmed death ligand 1 tumor proportion score of 1% or greater who had a history of failed frontline platinum-based therapy were randomized (2:1) to receive pembrolizumab every 3 weeks +/– 6 weekly infusions of SNK01 at either 2×109 or 4×109 cells per infusion (pembrolizumab monotherapy vs. SNK01 combination). The primary endpoint was safety, whereas the secondary endpoints were the objective response rate (ORR), progression-free survival (PFS), overall survival, and quality of life. Results: Since no dose-limiting toxicity was observed, the maximum tolerated dose was determined as SNK01 4×109 cells/dose. The safety data did not show any new safety signals when SNK01 was combined with pembrolizumab. The ORR and the 1-year survival rate in the NK combination group were higher than those in patients who underwent pembrolizumab monotherapy (ORR, 41.7% vs. 0%; 1-year survival rate, 66.7% vs. 50.0%). Furthermore, the median PFS was higher in the SNK01 combination group (6.2 months vs. 1.6 months, p=0.001). Conclusion Based on the findings of this study, the NK cell combination therapy may consider as a safe treatment method for stage IV NSCLC patients who had a history of failed platinum-based therapy without an increase in adverse events.