Kenan Kocabay

A new mutation of the fukutin gene in a non‐Japanese patient

Fukuyama‐type congenital muscular dystrophy (FCMD), Walker–Warburg syndrome, and muscle‐eye‐brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non‐Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patients DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan. Ann Neurol 2003

Sensitivity of iodine deficiency indicators and iodine status in Turkey.

BACKGROUND Iodine deficiency is a major health problem worldwide. Goiter prevalence and the median urinary iodine concentration in a population usually define endemic iodine deficiency. In addition to goiter prevalence and median urinary concentration, thyroid stimulating hormone (TSH) and thyroxine have been used as iodine deficiency indicators. OBJECTIVE To evaluate endemic goiter prevalence in Western Anatolia, Turkey, and to evaluate the sensitivity of thyroglobulin and height percentile as iodine deficiency indicators. SUBJECTS We examined 727 school-children (378 girls, 349 boys) in two cities (Bolu and Düzce) and six mountainous rural areas, in West Anatolia. Of the 727 children, 234 were from four urban schools, and 493 were from eight rural schools. METHODS Clinical examination and ultrasonography were used to evaluate goiter prevalence. Iodine in spot urine, serum total thyroxine (T4), serum free thyroxine (FT4), thyroid stimulating hormone (TSH), and thyroglobulin (Tg) were measured. Iodine deficiency severity was classified based on thyroid volume measurements by ultrasonography and urinary iodine excretion. RESULTS The degree of iodine deficiency according to concentration of urinary iodine was severe in 276 children (38%), moderate in 151 (20.8%), mild in 114 (15.7%), and within normal levels in 186 (25.4%). Although urban areas showed normal or mild urinary iodine excretion, four rural areas showed from mild to severe iodine deficiency (p < 0.001). Thyroid volumes of the severe iodine deficiency group were significantly higher than those of moderate and mild iodine deficiency groups (p < 0.001). There was no significant difference between thyroid volumes in moderate and mild iodine deficiency groups. FT4 levels of the severe iodine deficiency group were significantly lower than in moderate and mild iodine deficiency groups (p < 0.001). There was no significant correlation between TSH and iodine excretion (r = 0.01, p > 0.05). Thyroglobulin (Tg) levels were significantly different between all groups (p < 0.001). There was a significant negative correlation between Tg and urinary iodine excretion (r = -0.27, p < 0.001). CONCLUSIONS Severe and moderate iodine deficiency areas are more prevalent in Turkey than mild and normal iodine concentration areas. In addition to urinary iodine concentration and thyroid volume, height percentile and Tg are also sensitive markers for endemic iodine deficiency. TSH screening should be performed nationwide in Turkey. We recommend compulsory iodination of table and industrial salt.

Down sendromlu cinsel olarak aktif olmayan bir gençte tubo-ovaryan apse: Olgu sunumu ve literatürün kısa bir gözden geçirilmesi

Tubo-ovarian apse, cinsel olarak aktif olan kadinlarda pelvik inflamatuar hastalik komplikasyonu olarak sik gorulurken, cinsel olarak aktif olmayanlarda cok nadir gorulur. Hastalik genellikle karin agrisi ve ates gibi spesifik olmayan semptomlarla ve / veya daha az siklikla vajinal akinti ile kendini gosterir, bu nedenle acil hekimin erken tani koymasi zor olabilir. Hekimin tubo-ovarian apseyi hizli bir sekilde teshis etmesine veya dislamasina ‘’point-of-care ultrasound’’ sistemi yani tasinabilir ultrason cihazi ile yatak basinda hastanin ultrasonografisini yapmasi yardimci olur. Tibbi olarak (genis spektrumlu antibiyotik tedavisi ile) veya cerrahi olarak (lezyonun drenaj veya cikarilmasiyla) tedavi edilir. Karin agrisi nedeniyle acil servise basvuran hastalarin ayirici tanisinda cinsel olarak aktif olmadiklari icin pelvik inflamatuvar hastalik ve tubo-ovarian apse yer almiyorsa, gecikmeli taniya bagli ciddi komplikasyonlar gorulebilir. Acil hekimleri cinsel olarak aktif olmayan hastada tubo-ovarian apse tanisini koyup tedavi ederken cinsel istismar yonunden uyanik olmalidirlar. Down sendromu olan bir cocukta, zayif kisisel hijyen ile iliskili oldugu dusunulen ilk tubo-ovarian apse literaturun kisa bir gozden gecirmesiyle birlikte sunuldu.

Attitude and behaviors of mothers regarding fever in children; a Duzce University Faculty of Medicine study

Giris : Bu calisma ile Duzce Universitesi Tip Fakultesi Arastirma ve Uygulama Hastanesi’ne ates sikâyeti ile basvuran annelerin ates hakkindaki genel bilgi duzeylerinin ve atesli cocuklara karsi tutum ve davranislarinin belirlenmesi amaclanmistir. Yontem : Şubat Haziran 2017 tarihleri arasinda cocuk acil servis ve genel cocuk polikliniklerine basvuran 230 hasta calismaya alindi. Calismada 26 sorudan olusan anket degerlendirildi. Istatistiksel analizlerde tanimlayici ozellikler ki-kare testi ve Bonferonni duzeltmeli one way ANOVA kullanildi. Bulgular : Annelerin %79,1’inin atesi koltuk altindan olctugu ogrenildi. Annelerin buyuk kismi normal vucut sicakligini 35,5-36,4°C olarak isaretledi (%57,8). Annelerin %74,8’i atesin bir hastalik oldugunu ve %98,7’si de yuksek atesin zararli oldugunu dusunuyordu. Annelerin ates dusurmek icin en sik oneriyi doktorlardan aldiklari ogrenildi (%48,7). Atesi dusurmek icin yapilan en sik mudahale ilik su ile dus olarak tespit edildi (%73,5). En cok tercih edilen ates dusurucu %76,1 parasetamol idi. Egitim duzeyi arttikca ilik su ile dus ve cocugun uzerindekilerini cikarma cevabini verme orani anlamli olarak artmaktaydi (sirasiyla p=0,027; p=0,025). Sonuc : Bu calismada annelerin ates hakkindaki genel bilgi duzeylerinin yetersiz oldugu ve atesi dusurmek adina zaman zaman yanlis tutum ve davranislarinin oldugu goruldu. Ailelerin ates konusunda hekimler tarafindan detayli bilgilendirilmeleri ile bu konudaki gereksiz uygulamalarin onune gecilecegini dusunmekteyiz.

Çocuk Acil Kliniğine göğüs ağrısı ile başvuran hastalarda akut miyokart enfarktüsünü taklit eden akut miyokardit olguları

Gogus agrisi, ST segment elevasyonu ve kardiyak enzimlerde yukselme ile gelen cocuk hasta grubunda kardiyak kokenli hastalik ve aile hikâyesi yoksa dusunulecek ilk tani miyokardittir. Ancak miyokardit bazen akut miyokart enfarktusu gibi bazi hastaliklarla karisabilir. Elektrokardiyografi (EKG) bulgulari farkli olmasina ragmen, bazen akut miyokart enfarktusu ve akut miyokardit birbirini taklit edebilir. Bu iki hastaligin tedavi ve prognozu birbirinden tamamen farklidir. Ayirici taniya varmak hayat kurtaricidir. Bundan dolayi gogus agrisi ile basvuran, EKG de ST-T degisiklikleri mevcut olan ve kardiyak enzimlerde yukselme saptanan hastalarin ayirici tanisi, tedavisi ve takibi icin cocuk kardiyolojisi olan merkeze acilen sevki gereklidir. EKG’de spesifik ST-T degisiklikleri, gogus agrisi olan ve kardiyak enzimlerde yukselme olan 14 ve 16 yasinda miyokardit tanisi konulan iki hastayi sunduk.

Obez Çocuklardaki Hipertansiyon ve İnsülin Direncinin Kardiyak İşlev Bozukluğuna Etkisinin Ekokardiyografi İle Değerlendirilmesi

Objective: The purpose of this research was aimed to evaluate the cardiac functions of obese children by echocardiography and in addition to find out the affects of insulin resistance and/ or hypertension on cardiac functions. Material and Method: The Obese group included 52 children in this study (32 boys and 20 girls) with ages ranged between 4-19 years old (mean 11.6±3.7 years) and BMI ≥ 95 percentiles. Children with appropriate for age (4-19 years, mean 11.0±4.1 years), sex (25 boys and 19 girls), and with normal BMI were selected as control group. Serum fasting glucose, thyroid functions, lipid profile, insulin and cortisole levels were measured in the obese group. The patients were also divided into 4 subgroups according to existing of hypertension and/or insulin resistance, and they were also compared between each other. Echocardiographic measurements of both groups were made by using M-mode, 2-D and PW Doppler techniques and MPI values of the left and the right ventricles were calculated. The student’s t test was used to compare the main groups, and Analysis of variance (ANOVA) was used for comparisons of the different groups. Sidak test as a posthoc test was used for comparisons of the subgroups. Probability values of p <0.05 in all tests were considered significant.

Yenidoğanlarda Pnömotoraks Deneyimlerimiz

Amac: Yenidogan doneminde solunum sikintisi yapan nedenlerden biri de pnomotoraksolup, mekanik ventilasyon tedavisi, mekonyum aspirasyonu sendromu, solunum guclugusendromu ve perinatal asfiksi nedeniyle canlandirma islemi uygulanan olgularda gelismeriski yuksektir. Hastanemiz yenidogan bakim unitesinde semptomatik pnomotoraks saptanarak tedavi edilen olgular geriye donuk olarak incelenmistir.Gerec ve yontem: Ocak 2003-Ocak 2006 tarihleri arasindaki 7 pnomotoraksli olgudagestasyonel yas, agirlik, aminon sivisinin mekonyumla boyali olup olmadigi, primer akcigerpatolojisi varligi ve pnomotoraksin tarafi degerlendirildi. Tanida akciger grafisi ve baziolgularda konjenital anomali varligini arastirmak icin bilgisayarli tomografi yapildi. Toraksdrenaj islemi icin 10 F tup kullanildi.Bulgular: 7 olgunun degerlendirilmesinde; pnomotoraks insidansi %1,2 (7/570), erkek kizorani 1,3, basvuru zamani 10 saat ile 6 gun idi. 5 hasta (%71,4) prematurdu. Pnomotorakssagda 3 (%42,9), bilateral 4 (%57,1) vakada mevcuttu. Serimizde mortalite % 57,1 olarakbulunmustur. Vefat eden olgularin buyuk bir kismi (%75) premature, solunum guclugusendromlu ve iki tarafli pnomotoraksi olan olgulardi.Sonuc: Yenidogan pnomotoraks olgularinda mortalitenin prematurite, SGS ve iki taraflipnomotoraks varliginda yuksek olmasi literatur ile uyumlu bulundu