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 Rare Cause of Nasal Obstruction: Metastatic Renal Cell Carcinoma.

Introduction. Renal cell carcinoma can present with several interesting symptoms, paraneoplastic syndromes, and unusual metastatic sites. Head and neck region is one of the rare locations for renal cell carcinoma metastasis. Case Report. A 50-year-old man was admitted to the hospital with nasal congestion and snoring. Physical examination revealed nasal serous secretion. First taken biopsy was misinterpreted. The symptoms of the patient were not revealed and he was readmitted to the hospital. On radiologic examination, a vascular rich mass in maxillary sinus extending to the nasal cavity was observed. Biopsy was diagnosed as renal cell carcinoma metastasis. Herein, we present a patient with renal cell carcinoma presenting nasal obstruction and snoring as first and recurrent symptom.

Myocardial performance index combining systolic and diastolic myocardial performance in doxorubicin-treated patients and its correlation to conventional echo/Doppler indices.

This study was designed to evaluate the utility of myocardial performance index (MPI) in anthracycline cardiotoxicity. The MPI measures the ratio of total time spent in isovolumic activity (isovolumetric contraction time and isovolumetric relaxation time) to the ejection time, thus giving a global index combining systolic and diastolic myocardial performance. In this study, MPI was measured in 35 doxorubicin-treated children (aged 108.5+/-55.31 months, 23 males and 12 females) in sinus rhythm and 32 age-matched controls, and it was compared with conventional Doppler echocardiographic parameters. The isovolumetric contraction time was prolonged (38.37+/-24.43 vs 26.37+/-15.53, p <0.02) and ejection time was shortened (231.91 +/- 28.87 vs 256.21+/-19.55, p<0.001) in doxorubicin-treated patients compared to that in normal children. The isovolumetric relaxation time did not show significant difference between patients and control group (60.11+/-10.92 vs 61.06+/-12.12, p>0.05). MPI was significantly increased in doxorubicin-treated patients compared with that in control groups (0.42+/-0.07 vs 0.34+/-0.06, p<0.001), and significant correlation was observed between MPI and fractional shortening, ejection fraction, and left ventricular end diastolic and end systolic diameters (respectively, r = -0.508, p <0.002; r = -0.532, p<0.001; r = 0.467 p<0.005; r=0.606, p<0.001). Also, a weak correlation was found between MPI and duration of the disease and patient ages (r = 0.393, p < 0.02; r = 0.379; p < 0.02). However, there was no correlation between MPI and cumulative doxorubicin dose (r = 0.311, p > 0.05) and diastolic Doppler parameters in doxorubicin-treated patients. We think that MPI may be a useful parameter in monitoring left ventricular dysfunction in anthracyline-treated patients.

Echocardiographic evaluation of cardiac functions and left ventricular mass in children with malnutrition.

OBJECTIVE: This study was undertaken to assess the left ventricular mass (LV Mass) and systolic and diastolic functions of the left ventricle in children with protein energy malnutrition (PEM). METHODOLOGY: Thirty children, aged between 2 months and 2 years with PEM (four kwashiorkor, seven marasmic- kwashiorkor, 19 marasmus), and 17 healthy, age-matched children, using Doppler echocardiography were studied. RESULTS: The mean LV Mass in the patients was lower than that in the controls (14.5 +/- 5.2 vs 19.8 +/- 4.7 g, P < 0.05). However, the LV Mass/body surface area was not different in the patients with PEM and in the control group (52 +/- 9.2 vs 53.9 +/- 8.2g/m(2), P > 0.05), indicating that LV Mass was reduced in proportion to decrease in body size in malnutrition. Left ventricular septal and posterior wall thickness in PEM were also lower than that in the controls, and the most significant reduction in the LV Mass, septal and posterior wall thickness were found in the kwashiorkor group. Cardiac output was reduced in proportion to decrease in body size in the patient group (1.6 +/- 0.5 vs 2.1 +/- 0.8 L/min, P < 0.05), therefore cardiac index was not significantly different between the patients and the control subjects (5.9 +/- 1.4 vs 5.7 +/- 1.6 L/min/m(2), P > 0.05). Systolic function indices including ejection fraction, fractional shortening, and diastolic function indices were not significantly different in the groups. CONCLUSIONS: We demonstrated that LV Mass and cardiac output were reduced in proportion to decrease in body size in patients with PEM, and LV systolic and diastolic functions were preserved in atrophic hearts.

A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease).

The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed.

Left ventricular diastolic functions in juvenile rheumatoid arthritis.

Cardiac involvement as pericarditis, myocarditis, and endocarditis is common in juvenile rheumatoid arthritis (JRA). Though there are many reports concerning systolic and diastolic functions of adults with rheumatoid arthritis, there are no studies on children with JRA. Thirty patients with JRA without any cardiac symptoms and 30 sex- and age-matched controls were included in the study. M-mode and pulsed-wave Doppler echocardiography were performed on each participant to assess the systolic and diastolic functions of the left ventricle. Left ventricular end-systolic diameter and volume were larger and ejection fraction and fractional shortening were decreased in the JRA group. Among the diastolic parameters, increased late flow velocity, decreased early flow velocity, and prolonged isovolumic relaxation time reflected an abnormal relaxation form of diastolic dysfunction. Mortality rate is increased in adults with rheumatoid arthritis, and ischemic heart disease is the leading cause of cardiovascular mortality. The abnormal relaxation form of diastolic dysfunction found in children with JRA is seen in ischemic heart disease. These children can therefore be candidates for ischemic heart disease in the future even though they are fully asymptomatic at present. In conclusion, children with JRA should be assessed for systolic and diastolic functions with serial echocardiography. In this way it may be possible to reduce the mortality and morbidity of the disease from cardiac causes.

Malformations Due to Warfarin: A Case Report.

We report a 5-month-old infant with severe growth retardation who was exposed to in utero warfarin for the first 4 months. She had a dysmorphic face with depressed nasal hypoplasia and low-set ears. Cranial computerized tomography revealed bifrontal atrophy, agenesis of corpus callosum, and dilation of lateral ventricles. In addition she had patent ductus arteriosus with pulmonary hypertension, which had to be ligated.

Dispersion of QT and QTc interval in healthy children, and effects of sinus arrhythmia on QT dispersion.

OBJECTIVE: To determine the normal values of QT and QTc dispersion and the effects of sinus arrhythmia on QT dispersion in healthy children. PATIENTS AND SETTING: The study was carried out in a university hospital on 372 local schoolchildren (200 male, 172 female), aged seven to 18 years. METHODS: The QT and preceding RR intervals of at least one sinus beat were measured manually in a range of nine to 12 leads on standard 12 lead surface ECGs. The corrected QT interval was computed by the method of Bazett. Dispersion of QT and QTc were defined as (1) the difference between the maximum and minimum QT and QTc intervals occurring in any of the 12 leads (QTD and QTcD), (2) the standard deviation of the QT and QTc interval in the measurable leads (QT-SD and QTc-SD). RESULTS: There was no significant difference in QT, QTc, and RR dispersion between girls and boys. Overall 53% of children had sinus arrhythmia. Although QTD and QT-SD were not affected by sinus arrhythmia, both QTcD and QTc-SD were significantly greater in children with sinus arrhythmia than in those without (QTcD: 52.9 (17.4) v 40.9 (13.1); QTc-SD: 17.5 (5.9) v 13.2 (4.0); p < 0.001). CONCLUSIONS: As calculation of QTc dispersion is affected by sinus arrhythmia, which is common in childhood, we suggest that QT dispersion should not be corrected for heart rate in children.

Scurvy. A case report.

An 18-month-old girl presented with irritability, epistaxis, spongy appearance of the gums perifollicular papules with follicular hyperkeratosis, ecchymosis, painful swollen knees and scorbutic rosary. Her diet consisted mainly of wheat flour. X-ray of the knees showed findings compatible with scurvy. Ascorbic acid level was below 0.003 g/L. Ascorbic acid therapy resulted in a dramatic clinical improvement. Scurvy is an uncommon disease in our society today. It is important to recognize the signs and symptoms of scurvy because it is easily treated with vitamin C replacement.

Prevalence of idiopathic long QT syndrome in children with congenital deafness.

Long QT syndrome (LQTS) is characterized by prolongation of the QT interval associated with a high risk for syncope and sudden death. Jervell and Lange-Nielsen initially described LQTS in association with congenital sensorineural deafness. We have investigated the prevalence of this syndrome in a school for deaf children, evaluating by ECG 350 congenitally deaf children with an age range of 6-19 years. The corrected QT interval (QTc) was calculated by Bazett's formula. Eight children with a QTc interval >440 ms were further studied by cardiac examination, repeat ECGs (three times), Holter monitoring, echocardiography, and exercise testing. The families were assessed for a history of syncope and deafness and underwent ECG evaluations regarding lengthened QTc interval. Among these eight children only two girls aged 14 and 15 years were diagnosed as having LQTS according to Schwartz's criteria (0.57% of the 350 deaf children; 95% confidence intervals 0,

Mitral valve and left ventricular thrombi in an infant with acquired protein C deficiency. A case report.

The authors present an infant with left ventricular and mitral valve thrombi diagnosed by cross-sectional echocardiography. Thrombosis was due to acquired transient protein C deficiency, which was caused by impaired liver function due to sepsis. Because the thombi were very large and mobile, urgent surgery was performed. Eight weeks later, the patient's protein C level returned to normal ranges. The authors suggest that in all cases with intracardiac thrombosis, protein C deficiency should be investigated.

Congenital heart disease and Robinow syndrome.

We present a 6-month-old infant with Robinow syndrome and tricuspid atresia (type Ia). Up to now, at least 67 cases of Robinow syndrome have been published including nine cases with a congenital heart defect (CHD). As in our case, the majority of the CHD were right ventricular outflow obstruction. Robinow syndrome with CHD is not rare and in all cases of Robinow syndrome detailed cardiologic evaluation and echocardiography should be performed.