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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.

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.

Do children with adenotonsillar hypertrophy have lower IGF-1 and ghrelin levels than the normal children?

OBJECTIVE This study was designed to determine serum insulin-like growth factor-1 (IGF-1) and plasma ghrelin levels in male children with adenoid and tonsillar hypertrophy and compare them with healthy controls. METHODS This study included 29 male prepubertal children between the ages of 6.5 and 10 years (mean age 8.8 +/- 2.5 years) with obstructive adenoid and tonsillar hypertrophy and 20 normal male controls between the ages of 5.7 and 10.8 years (mean age 8.2 +/- 2.9 years). Plasma ghrelin and serum IGF-1 levels were measured at 8.30, in the morning. RESULTS Children with adenoid and tonsillar hypertrophy had significantly depressed serum IGF-1 levels (203 +/- 150 ng ml(-1)) and plasma ghrelin levels (175 +/- 66 pg ml(-1)) compared with healthy controls (354 +/- 242 ng ml(-1) and 243 +/- 93 pg ml(-1), respectively, P < 0.05). CONCLUSION Depressed levels of ghrelin in children with adenoid and tonsillar hypertrophy lead to decreased appetite and insufficient energy intake. Lower serum levels of IGF-1 in children with adenoid and tonsillar hypertrophy may be secondary to deficient growth hormone stimulation by ghrelin.

Treatment of Rapunzel Syndrome – Gastrostomy or Gastrotomy?

was used five times in the article, and we therefore presumed it had not been written by mistake. However, when we read the references cited in the article, which referred to the ‘gastrostomy’ procedure that had been performed, it became obvious that not ‘gastrostomy’ but the ‘gastrotomy’ procedure had been performed. In conclusion, when a foreign body exists in the stomach cavity, for its removal, not ‘gastrostomy’ but ‘gastrotomy’ is the proper therapeutic procedure. Dear Sir, We read with great interest the article of Naik et al. [1] entitled ‘Rapunzel Syndrome Reviewed and Redefined’. The article was aptly designed and all the current literature about Rapunzel syndrome was analyzed in detail, offering satisfactory data about the subject. Three cases were presented in the above article and it was stated that ‘gastrostomy’ was performed in all 3 patients, however we could not understand the justification for performing ‘gastrostomy’. If the ‘gastrostomy’ procedure had been performed, we wondered how long it was used in the patients. In the Discussion section of the article, ‘gastrostomy’ was defined as the preferred therapy model for the treatment of Rapunzel syndrome. However, in the current literature, ‘anterior gastrotomy’ is pointed out as being the preferred method of treatment for Rapunzel syndrome [2–7] . ‘Gastrostomy’ Published online: February 22, 2008

Hışıltılı Çocuklarda Predispozan Faktörlerin İncelenmesi

Amac: Hisilti (wheezing) kismi hava yolu obstruksiyonu sonucu olusan muzikal bir sestir. Calismamiz 0-6 yas grubu cocuklarda hisiltiya neden olan faktorlerin sikliginin incelenmesi, cocuklarin kilo ve dogum haftalarinin irdelenmesi, ailenin sosyodemografik durumunun hisilti ile olan iliskisinin gosterilmesi amaciyla yapilmistir. Gerec ve yontem: Bu amacla Afyon Kocatepe Universitesi, Tip Fakultesi Hastanesi Cocuk Sagligi ve Hastaliklari servisi ve poliklinigi ile Zubeyde Hanim Dogum ve Cocuk Bakimevi Hastanesi’nde 0-6 yas grubu cocuklarin ailelerine 33 adet anket sorusu soru sorulmustur. Toplam 225 cocugun yakinlari tarafindan anket doldurulmustur. Bulgular ve sonuc: Hisiltiyi artiran faktorler olarak: Erkek cocuk olma, sik kusma oykusu, hayatinin ilk 6 ayinda olma, saman nezlesi bulgularinin olmasi ve kis mevsimi saptanmistir. Hisiltili cocuklarin dogum kilolarinin ve dogum haftalarinin hisiltiyla bir iliskisinin olmadigi gorulmustur. Hisiltili cocuklarin ailesel ve cevresel faktorlerden etkilendigi dusunulmektedir

2009-2011 Yılları Arasında Afyon Kocatepe Üniversitesi Tıp Fakültesi Yenidoğan Servisinde Takip Edilen Konjenital Anomalili Bebeklerin Değerlendirilmesi

2009-2011 Yillari Arasinda Afyon Kocatepe Universitesi Tip Fakultesi Yenidogan Servisinde Takip Edilen Konjenital Anomalili Bebeklerin Degerlendirilmesi

Çocuklarda tüberkülin cilt testi

Tuberkuloz dunyada ve ulkemizde onemini koruyan ve dikkatli sekilde takibi gereken en oldurucu enfeksiyon hastaliklarindan birisidir. Hastalik gelisme riski yasin azalmasi ile beraber artmakta ve 2 yasin altinda artis belirginlesmektedir. Cocukluk cagi tuberkulozu tanisinda altin standart eriskin yasta da oldugu gibi basilin gosterilmesi ya da kulturde uretilmesidir. Ancak cocuklarda, bakteriyolojik tani orani eriskinlerden daha dusuk oranlarda bildirilmistir (% 30-50). Bu nedenle tuberkuloz enfeksiyonu suphesi bulunan cocuklara tani amacli olarak, ilk etapta deri testi yapilmalidir. Tuberkuloz basili ile temasin belirlenmesinde kullanilan en basit test tuberkulin cilt testidir. Tuberkulin cilt testinin esasi, basilin belirli antijenik bilesenlerinin, tuberkuloz basili ile enfekte kisilerde gecikmis tipte asiri duyarlilik reaksiyonu olusturmasidir. Test saflastirilmis protein turevi (Purified Protein Derivative: PPD) ile yapilir. PPD testi, sol onkolun 2/3 ust kisminda ic yada dis yuzune, cilt icine yapilir. Gec tipte hucresel asiriduyarlilik reaksiyonu sonucu endurasyon (kabarti-sertlik) olusumu gorulur. Bu yazida, standart tuberkulin cilt testinin cocuklarda uygulanmasi ve yorumlanmasi ele alindi.