Giant Epignathus (Teratoma of Palatine Tonsil): A Case Report

Teratomas are benign tumours containing tissues derived from ectoderm, endoderm and mesoderm Epignathus is a rare congenital teratoma and originates from oropharyngeal region. We present a case of giant epignathus arising from tonsillar region in a neonate. A male neonate that was born with a 38-week cesarean section presented with a pedunculated mass from left tonsilla palatina and protruding outside the mouth. The patient did not have any airway problem. Magnetic resonance imaging and computed tomography scan showed no intracranial extension. The patient was operated on the postpartum 3rd day and the mass was excised successfully. After histopathological examination, mature teratoma was diagnosed. During post-operative 6 months control visit, there was no recurrence. Epignathus is a rare congenital oropharyngeal teratoma, it should be diagnosed in the fetus as early as possible. Teratomas of the tonsilla palatina are extremely rare. In such cases, the mass may cause airway obstruction and feeding difficulties so complete resection is curative in most cases during the early neonatal period

Prenatal diagnosis of Neu-Laxova syndrome: a case report

BACKGROUND: Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS) diagnosed prenatally by ultrasound examination. CASE PRESENTATION: A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. CONCLUSION: Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option

Correction of Tethered Upper Lip Deformity Following Bilateral Cleft Lip Repair

Background: Shallow upper buccal sulcus, vertical shortness (whistling deformity), and limited mobility of the median part of the upper lip are among the most common secondary deformities following surgical repair of wide bilateral cleft lip. They are often encountered together as a triad of postoperative deformities with a common etiology. To date, there has been no surgical procedure to correct these 3 associated deformities in 1 stage

Age and gender associated changes in cystatin C and Beta2-microglobulin

Assessment of renal function in clinical medicine is of great importance. Various studies report that cystatin C (cysC) and beta 2 -microglobulin are valuable markers of renal function. in this study, serum cysC and beta 2 -microglobulin were measured in parallel with serum creatinine in a healthy population, and the characteristics of the relationship of cysC and beta 2 -microglobulin to age and gender were compared. Serum creatinine, cysC and b2-microglobulin were measured in 119 (86 female; 33 male, 6 to 69 years old) healthy subjects. They were divided into five different age groups: group 1 (6-15 years, n = 10), group 2 (16-30 years, n = 34), group 3 (31-45 years, n = 34), group 4 (46-60 years, n = 29) and group 5 (>61 years, n = 12). Serum creatinine did not differ among groups and was not correlated with age. Creatinine values were significantly different (p = 0.004) between males and females. CysC values differed neither by gender nor by age in the groups. However, cysC exhibited a positive correlation with age (r = 0.212, p = 0.021). b 2 -microglobulin levels showed a significant difference between groups (p = 0.036). There was a positive correlation between serum b 2 -microglobulin and age (r = 0.188, p = 0.041). in conclusion, serum cysC and b 2 -microglobulin levels in healthy individuals increase with ageing, consistent with the decrease in GFR

A novel tumor suppressor gene in basal cell carcinoma: inhibition of growth factor-2

In loss of heterozygosity (LOH) studies at the chromosome 4q22-35 region, it was shown that the amount of deletion was high in basal cell carcinoma (BCC). It has been proposed that genes located in this chromosomal region could be tumor suppressor genes in BCC. It has been thought that deletions in the ING2 gene located in the same region can play a role in the pathophysiology of BCC and that deletions occurring in this region may influence the level of ING2 expression in BCC. Tumoral and non-tumoral tissues from 75 patients with BCC (45 men and 30 women) were included to the study. Lesions were excised by a surgical margin of 0.5 cm. After excision, RNA was isolated from tumoral and non-tumoral tissue samples. ING2 messenger RNA (mRNA) expression level was determined in tumoral and non-tumoral tissues by the real-time polymerase chain reaction (RT-PCR). It was detected that ING2 mRNA expression level decreased in tumoral tissues when compared to non-tumoral tissues from BCC patients (p = 0.0001). It was found that expression levels of this gene were comparable among patients with primary, recurrent, or multiple BCC. It is thought that ING2 gene expression level could contribute to the development of BCC but not be associated with the stage and the prognosis of the tumor

Serum carnitine levels in patients with coronary artery disease

Carnitine is an essential molecule for the transfer of long chain fatty acids through the inner mitochondrial membrane, for beta-oxidation (1). the long chain fatty acids provide a large proportion of the energy requirement of the myocardium. Thus, adequate amounts of tissue carnitine are required to maintain the normal function of the myocardium (2). Experimental studies on acute myocardial ischemia and clinical investigations of patients with congestive cardiac failure have indicated that the myocardial carnitine content was significantly lowered in both conditions, in contrast to raised or normal blood carnitine (3-5). in the present study, alterations in serum carnitine levels were assessed in patients with atherosclerotic coronary artery disease (CAD) who did not exhibit any signs of cardiac failure. the possibility of a correlation between serum carnitine levels and the severity of the disease was also investigated in these patients. the subjects were assessed angiographically, and grouped according to the severity of the coronary artery disease (CAD) as control (n=15) and patients having mild (n=15), moderate (n=15), and severe (n=20) CAD. Serum free L-carnitine levels were measured in all of these groups by an enzymatic spectrophotometric method. There were no significant differences between the serum carnitine levels of the controls and mild and moderate CAD patients. on the other hand, a marked difference was observed between controls and the severe CAD patients (P< O.O1).These results imply that serum carnitine measurements cannot be used to define the presence of CAD, but they can be markers of advanced atherosclerotic lesions.Carnitine is an essential molecule for the transfer of long chain fatty acids through the inner mitochondrial membrane, for beta-oxidation (1). the long chain fatty acids provide a large proportion of the energy requirement of the myocardium. Thus, adequate amounts of tissue carnitine are required to maintain the normal function of the myocardium (2). Experimental studies on acute myocardial ischemia and clinical investigations of patients with congestive cardiac failure have indicated that the myocardial carnitine content was significantly lowered in both conditions, in contrast to raised or normal blood carnitine (3-5). in the present study, alterations in serum carnitine levels were assessed in patients with atherosclerotic coronary artery disease (CAD) who did not exhibit any signs of cardiac failure. the possibility of a correlation between serum carnitine levels and the severity of the disease was also investigated in these patients. the subjects were assessed angiographically, and grouped according to the severity of the coronary artery disease (CAD) as control (n=15) and patients having mild (n=15), moderate (n=15), and severe (n=20) CAD. Serum free L-carnitine levels were measured in all of these groups by an enzymatic spectrophotometric method. There were no significant differences between the serum carnitine levels of the controls and mild and moderate CAD patients. on the other hand, a marked difference was observed between controls and the severe CAD patients (P< O.O1).These results imply that serum carnitine measurements cannot be used to define the presence of CAD, but they can be markers of advanced atherosclerotic lesions