Evaluation of Methylation Profiles of An Epidermal Growth Factor Receptor Gene in a Head and Neck Squamous Cell Carcinoma Patient Group.

Upregulation of the epidermal growth factor receptor (EGFR) gene has shown an important impact on the development of head and neck cancers due to its important regulation role on multiple cell signaling pathways. The aim of this study was to investigate the methylation pattern of the promoter region of the EGFR gene between head and neck squamous cell carcinoma (HNSCC) patients and a control group. Forty-seven unrelated HNSCC patients, clinically diagnosed at the Department of Otorhinolaryngology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey, and 48 unrelated healthy volunteers from different geographic regions of Turkey, were included in this study. Methylation status of the promoter region of the EGFR gene was detected by methylation-specific-polymerase chain reaction (MS-PCR). The correlation between EGFR gene promoter methylation profiles and clinical characteristics were examined using the χ2 test. Methylation was observed in 79.0% of HNSCC patients, whereas this ratio was 90.0% in healthy individuals. The results show that promoter region methylation of the EGFR gene was not associated with HNSCC development in the studied Turkish patient group. In addition, the methylation status of the EGFR gene promoter was not found to be related to age, gender or tumor stage.

A mass at fat density in the parotid gland: dermoid cyst or lipoma.

A mass at fat density in the parotid gland: dermoid cyst or lipoma. Dermoid cysts (DC) of the head and neck are uncommon and account for only 7% of all dermoid cysts in the body. DCs of the parotid gland are even rarer. In this article, a 42-year-old female patient with DC of the parotid gland is presented and discussed with a brief review of the literature. Radiologic findings suggested that the mass was a lipoma, but observation of a hair in the cyst during surgery changed the clinical diagnosis to DC; this suspicion was confirmed by pathological analysis. Although DCs are rare among the parotid masses, they should be kept in mind during the differential diagnosis.

Fresh homografts obtained through a national organ-sharing programme for repair of congenital heart disease.

Homografts have been used in congenital cardiac surgery for over 30 years. We utilized the resources of a national organ-sharing programme to obtain fresh homografts and report their use in correcting cardiac pathologies in 20 children between March 2001 and May 2003. In 16 patients, a valved conduit was used to form a connection between the pulmonary ventricle and the pulmonary artery. In three patients, a non-valved aortic conduit was used to form an extra-cardiac Fontan circulation and in one patient, non-valved pulmonary and aortic conduits were used to repair an infected aortic aneurysm. Three patients died following surgery. Survivors were followed up using echocardiography between 2 and 24 months post-surgery. Results demonstrate that, with the help of a national organ-sharing programme, the use of fresh homograft conduits is feasible in a paediatric patient population with reasonable waiting times.

Dilated cardiomyopathy as the first early complication in a 14 year-old girl with diabetes mellitus type 1.

Diabetic cardiomyopathy (DC) has been reported in type 2 diabetics with short duration of clinically overt diabetes. Impaired left ventricular function has been reported in young patients with diabetes mellitus type 1 (IDDM), but severe cardiomyopathy as the first early major complication of IDDM is very rare. We report a 14 year-old girl with a 5-year history of IDDM and very poor compliance with treatment and follow-up. She was referred to our clinic upon the development of congestive heart failure and dilated cardiomyopathy was diagnosed based on clinical findings, electrocardiogram, chest X-ray and echocardiography. She had no evidence of other major complications of IDDM such as retinopathy, nephropathy or neuropathy.

Chronic hypoxemia leads to reduced serum IGF-I levels in cyanotic congenital heart disease.

Cyanotic congenital heart disease in children commonly causes more pronounced growth retardation in comparison with acyanotic congenital heart disease. Chronic hypoxemia has been suggested as the cause of poor growth in these patients, but the relationship between serum IGF-I levels and chronic hypoxemia is unclear. Serum IGF-I concentrations, oxygen saturation and nutritional status were evaluated in 29 patients with cyanotic congenital heart disease, and serum IGF-I levels were compared with a group of 20 well-nourished, age-matched control children to assess the relationship between IGF-I levels and chronic hypoxemia. The nutritional status of each patient was determined by using anthropometric parameters and calorie and protein intake ratios. The patients were divided into malnourished and well-nourished groups (21 and 8 patients, respectively) according to their nutritional status. Serum IGF-I concentrations were measured in the two patient groups and the controls. The malnourished group had the lowest IGF-I levels (48.14 +/- 21.8 ng/ml, p<0.05). However, the well-nourished group's IGF-I levels were significantly lower than the control subjects' despite improved nutritional status (85.5 +/- 30.2 and 107 +/- 19.7 ng/ml, respectively, p<0.05). In addition, we found a positive correlation between serum IGF-I levels and oxygen saturation of the patients (r=0.402, p<0.05). These findings indicate that chronic hypoxemia has a direct or indirect effect to reduce serum IGF-I concentrations and this may be a cause of the increased growth failure in patients with cyanotic congenital heart disease.

Percutaneous transvenous balloon mitral valvuloplasty: mid-term results in adolescents.

Six patients with mitral valve stenosis underwent percutaneous balloon mitral valvuloplasty (PBMV) in our department between November 1992 and December 1997. Five patients had rheumatic mitral valve stenosis and one had congenital mitral valve stenosis and Eisenmenger's syndrome with patent ductus arteriosus (PDA). Functional status before PBMV was class IV in two patients, class III in two patients, and class II-III in two patients, as classified by the New York Heart Association (NYHA). The mean diastolic pressure gradient across the mitral valve measured during heart catheterization before and immediately after PBMV was 18.8 +/- 10.42 and 9.4 +/- 7.7 mmHg, respectively (p < 0.01). The patients were followed for a mean period of 36.6 +/- 8.5 months (range 12 to 72 months) after the procedure. During follow-up, post PBMV mean diastolic transmitral gradient measured by color Doppler echocardiography decreased from 19.3 +/- 11.16 to 7.43 +/- 7.3 mmHg (p < 0.01) and the mitral valve area increased from 1.09 +/- 0.7 to 3.1 +/- 0.9 cm2 (p < 0.002). Functional capacity showed improvement to NYHA class I in four patients, to class II-III in the patient with congenital mitral valve stenosis and Eisenmenger's syndrome with PDA and to class II in one patient with severe mitral valve calcification in whom restenosis occurred three years after PBMV. Percutaneous balloon mitral valvuloplasty PBMV can achieve very good short- and mid-term results in relieving symptomatic rheumatic mitral valve stenosis.

Neurofibromatosis type I and unilateral ophthalmic artery occlusion.

Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be a rare feature of neurofibromatosis type I besides more commonly described cerebrovascular changes.

Anomalous origin of the left coronary artery from the pulmonary artery.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCA-PA) is a rare form of congenital heart disease. In this report, three cases with this anomaly are described; two patients presented in infancy with heart failure from myocardial ischemia and infarction, while the third was asymptomatic and ALCA-PA was diagnosed during evaluation of a residual murmur after surgery for associated cardiac defects (ventricular septal defect and patent arterial duct). All three cases underwent aorto-pulmonary tunnel repair (Tukeuchi procedure), and to our knowledge two of them are the first infantile cases reported in Turkey.

Palliative Mustard operation for transposition of the great arteries: late results after 15-20 years.

OBJECTIVE: To assess the clinical, functional state, and complications late (15-20 years) after palliative Mustard operation. DESIGN: Examination and evaluation of all patients presenting in adolescence and adult life after palliative Mustard operation for transposition of the great arteries and pulmonary vascular disease. SETTING: Grown-up Congenital Heart Unit specialised in the care of adolescents and adults with congenital heart disease, designated as having "quaternary" status within a tertiary referral centre for cardiac diseases. PATIENTS AND METHODS: Database searched for patients referred after palliative Mustard for classic transposition of the great arteries. Ten patients aged 18-31 (mean (SD) 25.9 (5.2)) years with a palliative Mustard operation performed at age 1.7-15 (mean (SD) 9 (4.6)) years were fully evaluated by echocardiography, exercise testing, Holter monitoring, and magnetic resonance imaging or radionuclide ventriculography, or both 15-20 years later. RESULTS: One patient died aged 25 years with biventricular failure (ability index 3/4), haemoptysis, and atrial flutter, eight were well (ability index 2), and one disabled (ability index 3). Arterial oxygen saturation at rest was 85-98% (mean (SD) 93.8 (4)%) decreasing to 59-87% (mean 77 (9.5)%) after limited exercise. Symptomatic arrhythmias occurred in four patients, atrial flutter being the most common, and two had sinus node dysfunction. Significant tricuspid regurgitation occurred in four patients. CONCLUSION: Patients with palliative Mustard operation have a low incidence of symptomatic ventricular dysfunction and despite exercise limitation by hypoxia, continue to live active, near normal lives until their thirties.