Reşit Köken

Analysis of Familial Mediterranean Fever Gene Mutations in 202 Patients with Familial Mediterranean Fever

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein. In this study, we analyzed the most common five mutations in MEFV gene of 202 patients who were diagnosed formerly as FMF according to Tel-Hashomer criteria. The results of genetical analysis, clinical symptoms, and demographical aspects of those patients were evaluated retrospectively. METHODS AND RESULTS Between the dates of February 2005 and March 2007, we analyzed five common MEFV gene mutations, which were M680I, M694V, M694I, V726A, and E148Q, in 202 patients by the PCR-ELISA method in our medical genetics laboratory. The most frequent mutation detected in our patients was M694V, and other mutations according to frequency were E148Q, M680I, V726A, and M694I. The detected mutations were homozygous in 45 of the patients (22.2%), heterozygous in 103 (51%), compound heterozygous in 52 (25.8%), and in 2 patients (1%) complex alleles were defined. The most common symptom was abdominal pain (80.4%) and other symptoms, respectively, were fever (57.8%), arthralgia (36.7%), chest pain (4.5%), and skin rash (2%). Amyloidosis was present in seven patients, and five of them had M694V mutation (homozygous), one of them had E148Q (heterozygous) mutation, and the other one had M694V/M694I mutation. CONCLUSION In our patients, we defined 21 different genotypes of MEFV gene and the most common mutation was M694V. The most common symptoms were abdominal pain and fever. We detected significant correlation between the M694V, E148Q, and V726A mutations and clinical findings.

Nasal carriage of Staphylococcus aureus in 4–6 age groups in healthy children in Afyonkarahisar, Turkey

Aim: Staphylococcus aureus is a common cause of disease, particularly for colonized persons. Although methicillin‐resistant S. aureus (MRSA) infection has frequently reported, population‐based S. aureus and MRSA colonisation estimates are lacking. Our objective in this report is to present the prevalance of S. aureus carriage among 4–6 age groups healthy children in our region.

Frequency of norovirus in stool samples from hospitalized children due to acute gastroenteritis in Anatolia, Turkey, 2006-2007.

Noroviruses are among the most common causes of sporadic enteritis in childhood. In this pilot study, the frequency of norovirus infection in children in mid-western Turkey was investigated from November 2006 to June 2007. Noroviruses were detected in 17% of samples (15/88) by a combination of 2 different RT-PCR assays, both targeting an overlapping region of the RNA-dependent RNA polymerase gene. By sequence analysis, most strains were characterized as GIIb/Hilversum. One strain was characterized as GII.4/2006a, a variant that appeared worldwide in 2006, while another strain was characterized as a rare genotype, GII.6. This study demonstrates the importance of norovirus in paediatric diarrhoea and suggests the heterogeneity of circulating strains in Turkey.

Preoperative sonography of nonreducible inguinal masses in girls.

Inguinal hernia is one of the most common surgical pathologies in childhood. Any of the abdominal organs can slide into the hernial sac and become incarcerated there. In girls, the fallopian tubes, ovaries, uterus, and—rarely—ovarian cysts can form the sliding component of an inguinal hernia. The aim of this study was to investigate the diagnostic value of preoperative sonographic examination in girls with nonreducible inguinal masses.

The relationship between P-wave dispersion and diastolic functions in diabetic children.

OBJECTIVE The aim of this study was to investigate the relations between the P-wave dispersion and diastolic functions in type 1 diabetic children. PATIENTS A total of 33 diabetic patients without any cardiovascular disease, with a mean age of 12.3 plus or minus 4.2 years, and 29 healthy controls, with a mean age of 10.4 plus or minus 3.9 years were enrolled for this study. Left and right ventricular functions were assessed by using standard pulsed-wave Doppler echocardiography. P-wave dispersion was calculated by measuring minimum and maximum P-wave duration values on the surface electrocardiogram. RESULTS For the diabetic patients, P-wave maximum duration and dispersion was found to be significantly increased compared with healthy controls. Likewise, mitral A velocity and A velocity time integral was significantly increased while the isovolumic contraction time was significantly higher in the diabetics. In tricuspid valve measurements, however, A velocity time integral was found to be significantly higher, whereas the deceleration time was significantly lower in the diabetics. No relation was found between the left ventricle diastolic functions and duration of diabetes, HbA1c levels and P-wave dispersion in the diabetic children. No correlation was found between the diastolic functions and P-wave minimum, maximum duration, and dispersion for all the participants. CONCLUSION In type-1 diabetic children, the diastolic functions of both the ventricles were observed to be affected negatively together. Diabetes might be causing the prolongation of P-wave dispersion, but there was no relationship between the diastolic functions and P-wave dispersion in the diabetic children.

Molecular characterization of rotaviruses in mid-western Turkey, 2006–2007

Vaccines against rotaviruses are now available in numerous countries, including Turkey. As the vaccines may show various efficiencies against different type specificities and routine vaccination in infants might result in selection and immune escape of wild-type rotavirus strains, strain surveillance has been initiated before and during the vaccine introduction. We aimed to provide corresponding information on local strain prevalence in Anatolia, mid-western Turkey during the introduction of rotavirus vaccines. Stool samples positive for group A rotavirus by commercial enzyme immunoassay were subjected to reverse transcription-polymerase chain reaction based genotyping of the outer capsid antigens, VP7 and VP4, determining G and P type specificities respectively. Among 36 fully and 5 partially typeable strains we detected genotype G1, G2, and G9 VP7 specificities and genotype P[4], P[6] and P[8] VP4 specificities in 5 individual and 4 mixed combinations. The most common strain was G2P[4] (n=17), followed by G9P[8] (n=9). Other strains were G1P[8] (n=2), G2P[8] (n=2), G1+2P[8] (n=2), G9P[4] (n=1), G2+9P[8] (n=1), G4+9P[6] (n=1), and G2P[4+8] (n=1). Partially typed strains included 2 G1P[NT] and 3 G2P[NT] strains. Our data may help determine a baseline of the rotavirus genotype prevalence in Turkey and see if changes in the incidence of individual strains will be observed after routine use of vaccine.

Pleural effusion: a rare complication of hepatitis A.

Hepatitis A (HAV) infection, which is the most common form of hepatitis in the paediatric age group and which sometimes has a fulminant course, is endemic in Turkey, constituting one of the countrys important health problems. Pleural effusion also represents a rare benign complication of acute HAV infections. We describe here a case of Hepatitis A who developed pleural effusion.

Asymptomatic diaphragmatic rupture with retroperitoneal opening as a result of blunt trauma

Blunt traumas of the abdomen and thorax are important clinical problems in pediatric ages. Severity of trauma may not always be compatible with the patients’ clinical situation. A 2-year-old male child was admitted to our emergency clinic as a result of tractor crash accident. Physical examination of the child was normal. The abdominal and thoracic ultrasonography (USG) examination performed in the emergency clinic was normal. In thoracic computed tomography (CT) scan of the patient, there was irregularity of the right diaphragmatic contour that was described as micro perforation-rupture (the free air was just in the perihepatic and retroperitoneal area, which was not passing through the abdomen). The patient was followed-up for 1 week in the hospital with a diagnosis of retroperitoneal diaphragmatic rupture. It is not appropriate to decide the severity of trauma in childhood on the basis of clinical findings. Although severe trauma and sustaining radiological examinations, the patients’ clinical pictures may be surprisingly normal, as in our patient. In such cases, there may not be any clinical symptom. CT scan examination must be preferred to USG for both primary diagnosis and follow-up of these patients. According to the current literature, there is no reported case with retroperitoneal rupture of the diaphragm.

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

Summary Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. Case Report This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Conclusions Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease.

Fascia, muscle and peritoneal rupture without any skin lesion as a result of blunt abdominal trauma--a case report.

Abstract Background : Blunt abdominal trauma is one of the important causes of morbidity and mortality in childhood. Rapid and correct diagnosis is critical for blunt abdominal trauma cases. Methods : A twelve-year-old male was admitted to our emergency service following a bicycle accident. He had mild abdominal discomfort by palpation located at the lower right abdominal quadrant. A hyperaemic area of 1 χ 4 cm, was present on the skin surface. During the CT scan examination, a 1 χ 1.8 cm rupture of the right rectus abmominis muscle at the pelvic inlet level was detected. Intra-operatively, we detected an approximately 10 cm irregular fascial rupture, an 8–10 cm muscular rupture of the rectus abdominis muscle and also a 10 cm peritoneal rupture. Conclusion : Blunt abdominal trauma may cause severe intra-abdominal tissue and visceral injuries, even if no important clinical findings are present. So, all standard diagnostic procedures must be called into mind in order not to overlook severe intra-abdominal injuries.