Resistant Chorea Successfully Treated With Intravenous Immunoglobulin: A Case Report*

Sydenham’s chorea (SC) is common cause of acquired chorea in childhood. SC occurs mainly in children with untreated streptococcal infections. An effective list of therapeutic options has been used to treat this disorder: antiepileptic drugs (valproic acid, carbamazepine etc.), haloperidol, chlorpromazine, amphetamines, steroids, plasma exchange and intravenous immunoglobulins (IVIG). We report a 12-year-old girl with carditis and severely generalized chorea and successfully treated with IVIG. This case report shows that IVIG is an effective treatment for the chorea cases resistant to anticonvulsants, dopamine antagonists and steroids, although larger studies are needed to confirm this conclusion

DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo

Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 30 -untranslated region of the DAT1 gene and in exon 3 of the dopamine D4 receptor (DRD4) gene differ among four groups (31 subjects with SCT but no ADHD, 146 individuals with ADHD but no SCT, 67 subjects with SCT + ADHD, and 92 healthy controls). Methods: We compared the sociodemographic profiles, neurocognitive domains, and prevalence of two VNTRs in SCT and ADHD subjects versus typically developing (TD) controls. Results: The SCT without ADHD group had a higher proportion of females and lower parental educational attainment. Subjects in this group performed worse on neuropsychological tests, except for psychomotor speed and commission errors, compared to controls. However, the ADHD without SCT group performed significantly worse on all neuropsychological domains than controls. We found that 4R homozygosity for the DRD4 gene was most prevalent in the ADHD without SCT group. The SCT without ADHD group had the highest 7R allele frequency, differing significantly from the ADHD without SCT group. Conclusion: The 7R allele of DRD4 gene was found to be significantly more prevalent in SCT cases than in ADHD cases. No substantial neuropsychological differences were found between SCT and ADHD subjects

The association between loss of appetite and sense of olfaction in children with iron deficiency anemia

Çocukluk çağında en sık görülen anemi türü olan demir eksikliği anemisi (IDA) varlığının koku alma davranışını ve IDA’lı hastalarda koku duyusunun iştah durumunu nasıl etkilediği hakkında çok az şey bilinmektedir. Bu çalışmanın amacı; IDA’lı hastalarda koku duyusundaki değişiklikleri ve koku duyusu değişikliklerinin iştah üzerine etkisini ortaya koymaktır. Çalışmaya IDA tanılı 57 çocuk ile herhangi bir psikiyatrik bozukluğu ve anemisi olmayan, hasta grubuyla yaş, cinsiyet, sosyokültürel özellikler ve eğitim durumu açısından eşleştirilmiş 57 sağlıklı çocuk dahil edilmiştir. Koklama fonksiyonu ölçümü için Sniffin koku duyusu çubukları kullanıldı. Değerlendirme, Sosyodemografik Veri Formu, Duygusal Bozukluklar için Kiddie Takvimi ve Okulda Yaşanan Çocuklar ve Yaşam Boyu Versiyon için Çocuk Şizofreni ve Çocuk Yeme Davranışı Anketi kullanılarak yarı yapılandırılmış bir psikiyatrik görüşme kullanılarak gerçekleştirilmiştir. IDA'lı hastalar, kontrol grubuna kıyasla anlamlı olarak daha düşük bir eşik, ayrımcılık ve tanımlama değerine sahipti. Korelasyon analizi, toplam koku testi skorundaki artış ile iştah göstergeleri toplam skoru arasında anlamlı bir korelasyon gösterdi. Bu çalışmada IDA'lı çocuklarda, iştah azalmasına koku fonksiyonlarında bozulmanın eşlik ettiği görülmüştür. Koku işlev bozukluğunun, iştah azalması açısından önemli bir faktör olabileceği düşünülmektedirIDA (iron deficiency anemia) is the most common type of anemia in pediatric patients and very little is known about the effect of IDA on the sense of smell and about the effects of smell on appetite. This study shows the effect of IDA on the sense of smell and about the effects of smell on appetite. The study enrolled 57 IDA patients and 57 healthy subjects. Olfactory function was evaluated using the Sniffin’ Sticks olfactory test. The evaluation was performed by using a semi-structured psychiatric interview using Sociodemographic Data Form, Kiddie Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version and The Child Eating Behaviour Questionnaire. Patients with IDA had a significantly lower threshold, discrimination, and identification value, and a lower threshold compared with the control group. Correlation analysis showed a significant correlation between an increase in the total olfactory test score and the total score for appetite indicators. In this study, it was observed that decreased appetite in children with IDA was accompanied by impaired odor functions. It suggests that odor dysfunction may be a significiant factor for decreased appetite

Evaluation of the lag time between onset of symptoms and diagnosis in childhood cancers

Introduction: Our aim was to evaluate the lag time between the first onset of symptoms and the final diag-nosis in children with lymphoma and solid tumors.Materials and Methods: This study was carried out by retrospectively scanning the records of 759 patients admitted to the Pediatric Oncology Department of Uludag University between January 2005 and December 2014. Demographic data of the patients, first complaints, the time to apply to a physician after the first complaint, the first application center were determined, lag time to the center that established the oncologic diagnosis, the final diagnosis, time to diagnosis at the last center, total time elapsed from the first onset of complaints to the establishment of diagnosis and the last health state of the patient were obtained from the hospital records.Results: The patients diagnosed with cancer firstly applied to a physician median 15 days. The physicianwho saw the patient for the first time referred to him/her to the center that established the final diagnosis after a median of 8 days. The median time to final diagnosis was 10 days minimum 1 days and totaly 55 days at the last center. In patients whose first symptom is fever, abdominal pain and seizures and In patients with a definitive diagnosis of germ cell tumor, neuroblastoma, kidney tumor and liver tumor, the time to the first admission was shorter than 15 days. In patients whose first symptom was a headache, and abdominal mass; in patients and central nervous system (CNS), and eyes, and in patients with the final diagnosis of CNS tumor germ cell tumor and retinoblastoma, the lag times for referrals were significantly shorter than 8 days. In patients whose first symptom was headache, nausea and vomiting, fatigue-weight loss, and visual disturbances and in patients with the final diagnosis of CNS tumors and neuroendocrine tumors, the time to diagnosis was significantly shorter than 10 days.Conclusion: Delays in diagnosis are common in children with cancer. A sustained effort should be made to raise the level of awareness of childhood cancer among parents and to sensitize all physicians, especially those who treat pediatric patients infrequently, about the warning signs of the disease

Ailevi akdeniz ateşli çocuklarda ortalama trombosit hacmi ve trombosit dağılım genişliğinin değerlendirilmesi

Platelet activation plays a key part in the process of atherosclerosis. The risk of atherosclerosis increased in familial Mediterranean fever (FMF). Mean platelet volume (MPV), platelet distribution width (PDW) and platelet counts are important in platelet activation. The aim of present study was to evaluate the relationship between the MPV, PDW, PLT counts and mutation types of FMF in children in attack free period. PLT counts, MPV, PDW, age, sex and mutation types of patients were recorded retrospectively from medical records of patients. Three hundred sixty-eight children with FMF in attack-free period and 379 healthy children were included in the study. MPV of the patients were lower than those of control (p0.05). Of 368 patients; homozygous, heterozygous, and compound mutations were seen, respectively, in 51, 267, and 51 patients. The MPV of patients with homozygous (p=0.029) and heterozygous(p=0.041) mutations were found higher than that of patients with compound mutations. There was no difference between heterozygous and homozygous mutation in terms of MPV (p>0.05). In addition, there was no difference between heterozygous, homozygous and compound mutations in terms of PDW and PLT counts (p>0.05). The most common mutations were M694V (n=131), E148Q (n=82), M680I, (n=37), and V726A (n=32). There wasn’t seen significant difference among these mutations in terms of MPV, PDW and PLT counts (p > 0.05). Although, atherosclerosis risk is increased in high MPV levels, we couldn’t find this relationship in current study. It may be due to all the patients were under colchicine treatment. On the other hand PDW levels were found higher in patients than control group. To verify this relationship between PDW and MPV values, further investigations are needed.Trombosit aktivasyonu ateroskleroz sürecinde anahtar rol oynamaktadır. Ateroskleroz riski ailevi Akdeniz ateşi (AAA) hastalığında artmıştır. Ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayısı, trombosit aktivasyonunda önemlidir. Çalışmanın amacı ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayılarıyla ataksız dönemdeki AAA’lı çocukların mutasyon tipinin arasındaki ilişkiyi incelemektir. Ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayıları, yaş, cinsiyet ve mutasyon tipleri, hastaların tıbbi kayıtları geriye dönük incelenerek kaydedilmiştir. Çalışmaya atak döneminde olmayan 368 AAA’lı çocuk hasta ve 379 sağlıklı çocuk dahil edilmiştir. BULGULAR: Ortalama trombosit hacmi (MPV), hastalarda kontrol grubuna göre daha düşüktür (p0.05). Homozigot, heterozigot, birleşik mutasyonlar 368 hastanın sırasıyla 51, 267 ve 51’inde saptanmıştır. OTH; homozigot mutasyonlu (p=0.029) ve heterozigot mutasyonlu hastalarda (p=0.041) birleşik mutasyonlu hastalardan daha yüksek bulunmuştur. Homozigot mutasyonlu hastalarla, heterozigot mutasyonlu hastalarda ortalama trombosit hacmi açısından fark bulunmamıştır (p>0.05). Ayrıca, trombosit dağılım genişliği ve trombosit sayılar açısından heterozigot, homozigot ve birleşik mutasyonlar arasında fark saptanmamıştır (p>0.05). En sık görülen mutasyonlar M694V (131), E148Q (82), M680I, (37), and V726A (32) olarak saptanmıştır. Bu mutasyonlar arasında MPV, trombosit dağılım genişliği ve trombosit sayıları açısından anlamlı fark saptanmamıştır (p > 0.05). Ateroskleroz riski yüksek MPV değerlerinde artmış olsa da, şimdiki çalışmada bu ilişkiyi bulamadık. Bu, belki de tüm hastaların kolşisin tedavisi altında olduğundan kaynaklanmış olabilir. Diğer yandan PDW değerleri kontrol grubuna göre daha yüksek saptanmıştır. PDW ve MPV arasındaki ilişkiyi açıklığa kavuşturmak için daha fazla çalışmaya ihtiyaç vardır

Immunological evaluation of children with Crimean-Congo Hemorrhagic Fever in addition to routine clinical and laboratory tests who were admitted to Sivas, Cumhuriyet University

Giriş: Çalışmamızda, Kırım-Kongo Kanamalı Ateşi (KKKA) tanısıyla izlenen çocuk hastaların klinik ve rutin laboratuvar bulgularıyla birlikte, serum immünglobulin ve kompleman düzeylerinin değerlendirilmesi amaçlandı. Gereç ve Yöntem: Sivas, Cumhuriyet Üniversitesi’nde 2011-2012 tarihleri arasında, Enzyme-Linked Immunosorbent Assay (ELISA) veya polimeraz zincir reaksiyonu (PCR) kanıtlı KKKA tanısı alan 72 hastanın tıbbi kayıtları geriye dönük incelenmiştir. Epidemiyolojik, klinik özellikleri ve laboratuvar verileri hakkındaki bilgiler kaydedilmiştir. Bulgular: Çalışmaya alınan yetmiş iki çocuk hasta (ortalama yaş; 11,95±3,95 yıl) Tokat, Sivas, Yozgat, Giresun ve Erzincan’dan geliyordu. Başvuru esnasında başlıca ateş (%94,4), kusma (%54,2), halsizlik (%52,8), iştahsızlık (%50), baş ağrısı (%47,2), üst solunum yolu enfeksiyonu bulguları (%41,7), daha nadir olarak peteşi-purpura-ekimoz, epistaksis, ishal, melena, makülopapüler döküntü, hematemez, hematüri, hepatomegali, splenomegali, lenfadenopati bulguları vardı. Başvuruda hastaların laboratuvar bulguları şu şekildedir: %80,6 trombositopeni, %70,8 lökopeni, %50 nötropeni, %73,6 yüksek aspartate transaminaz, %26,4 yüksek alanine transaminaz, %71,6 yüksek laktat dehidrogenaz, %68,1 yüksek keratin kinaz, %54,2 uzamış protrombin zamanı, %52,8 uzamış parsiyel tromboplastin zamanı saptanmıştır. Ayrıca düşük IgG, düşük IgA, düşük C3 ve düşük C4 sırasıyla 4, 3, 12 ve 1 hastada saptanmıştır. Tüm hastalar sıvı-elektrolit tedavisi alırken, bir kısmı kan ürünü almıştır. Dört hasta intravenöz immünglobulin (IVIG), 69 hasta ribavirin tedavisi almıştır. Sonuç: Çocuklarda KKKA klinik bulguları erişkinlerdekine benzerdir. Serum immünglobulinleri düşük bulunan hastalarda verilen intravenöz immünglobulin (IVIG) tedavisi dışında diğer tedaviler benzer bulunmuştur. KKKA’da immün yetmezlik araştırılması konusunda daha geniş çaplı çalışmalara ihtiyaç vardır.Introduction: In our study, it was aimed to evaluate clinical and routine laboratory findings and serum immunoglobulin and complement levels of pediatric patients with the diagnosis of Crimean-Congo Hemorrhagic Fever (CCHF). Materials and Methods: Medical records of 72 patients that diagnosed with CCHF proven by ELISA or polymerase chain reaction (PCR) in Sivas, Cumhuriyet University between 2011 and 2012 were reviewed retrospectively. The information about the epidemiological, clinical features and laboratory findings were recorded. Results: Seventy-two patients who participated in the study, (mean age11.95±3.95 years) came from Tokat, Sivas, Yozgat, Giresun and Erzincan. During the admission, patients mainly had fever (94.4%), vomiting (54.2%), fatigue (52.8%), anorexia (50%), headache (47.2%), upper respiratory tract infection findings (41.7%); rarely, petechiae-purpura, ecchymosis, epistaxis, diarrhea, melena, maculopapular rash, hematemesis, hematuria, hepatomegaly, splenomegaly, lymphadenopathy were seen. At admission, laboratory findings of the patients were as follows; thrombocytopenia, 80.6%; leucopenia,70.8%; neutropenia, 50%; high aspartate transaminase, 73.6%; high alanine transaminase, 26.4%; high lactate dehydrogenase 71.6%; high creatine kinase, 68.1%; prolonged protrombine time, 54.2%; prolonged partial thromboplastin time, 52.8%. In addition low IgG, low IgA, low C3, low C4 were found in 4, 3, 12 and 1 patient respectively. All patients received intravenous fluid therapy; some received blood products. Four patients received intravenous immunoglobulin, 69 patients were treated with ribavirin. Conclusions: Clinical findings of CCHF in children are similar to those in adults; in patients with low serum immunoglobulin outside the intravenous immunoglobulin (IVIG) treatment, other treatments are similar in all patients. In CCHF to investigate immunodeficiency status, further large-scale study is needed

Evaluation Of The Achievement Of Hematologists To Transfusion Medicine Education With Self-Assessment Questionnaire In Turkey

Background: Proper clinical use of blood andblood products requires competent theoreticaland practical knowledge of transfusion medicine.The Curriculum Development and StandardDetermination System Medical SpecializationBoard is prepared Hematology SpecialistEducation Core Curriculum in Turkey. In thisstudy, we aimed to determine the access ofhematologists to the learning objectives definedby curriculum for the transfusion medicine andthe factors affecting it.Methods: Hematologists who have beenmembers of Turkish Hematology Society since2013 have been included in the study, Thesurvey questions were prepared based on thecurriculum for transfusion medicine. The studywas applied to hematologists with “surveymonkey” application. The questionnaireconsisted of a competence self-assessment withLikert scale and theoretical multiple-choiceknowledge questions.Results: Of the 213 hematologists, 54 (25%)were included in the study. Hematologists ratedtheir competences in the clinical competenceareas as 3,65 ± 0,73 (median 3,60) as “I knowbut not t a sufficient level”. The participants‘perception of competence was “I know, butnot at a sufficient level’” with an average of3.31 ± 0.84 (median3.5) in the blood bankingfield, while the average in hemapheresis andtransfusion medicine was 4.04 ± 0.63 (median4) as “enough”. In interventional procedures,hematologists stated that their vocationalcompetences were 2,79± 0,92 (median 2,93)on average as “I have an idea- I know, but notenough”. The correct answer to 13 theoreticalquestions was an average of 6,96 ± 1,89(median 7). Hematologists performing bloodrotation felt significantly more competent thanthe physicians who could not do the rotation inthe blood bank, blood banking t(52) = -3.9, p .001 , transfusion medicine and interventionalcompetence t(52) = -2.2, p = .04 . Physicianswho believed that they are sufficient in theblood banking area, were more confident intransfusion medicine r(54) = .67, p .001 andmanaging interventional procedures r(54) =.85, p .001.Conclusion: In this study, hematologistsgenerally felt more competent in subjects suchas transfusion and therapeutic apheresis,which they often think of as not having enoughknowledge in the area of blood banking.Hematologists have been more confident inthe field of transfusion medicine as their yearsof expertise increased, but they did not feelbetter equipped in the fields of blood bankingand interventional competence. The currentresults suggested that hematologists who areexpected to be the blood bank supervisors do notinternalize the area of blood banking, are notstrong in their competence, and do not want towork in this area unless they are required.In hematology education curriculum, positiverevisions in education can be achieved byrevising blood banking curriculum and learningobjectives, standardizing blood center rotationswith content and duration, and support fromonline distance education programs

Türkiye´de hematologların transfüzyon tıbbı uzmanlık eğitim hedeflerine ulaşımının öz yeterlilik anketi ile değerlendirilmesi

Background: Proper clinical use of blood andblood products requires competent theoreticaland practical knowledge of transfusion medicine.The Curriculum Development and StandardDetermination System Medical SpecializationBoard is prepared Hematology SpecialistEducation Core Curriculum in Turkey. In thisstudy, we aimed to determine the access ofhematologists to the learning objectives definedby curriculum for the transfusion medicine andthe factors affecting it.Methods: Hematologists who have beenmembers of Turkish Hematology Society since2013 have been included in the study, Thesurvey questions were prepared based on thecurriculum for transfusion medicine. The studywas applied to hematologists with “surveymonkey” application. The questionnaireconsisted of a competence self-assessment withLikert scale and theoretical multiple-choiceknowledge questions.Results: Of the 213 hematologists, 54 (25%)were included in the study. Hematologists ratedtheir competences in the clinical competenceareas as 3,65 ± 0,73 (median 3,60) as “I knowbut not t a sufficient level”. The participants‘perception of competence was “I know, butnot at a sufficient level’” with an average of3.31 ± 0.84 (median3.5) in the blood bankingfield, while the average in hemapheresis andtransfusion medicine was 4.04 ± 0.63 (median4) as “enough”. In interventional procedures,hematologists stated that their vocationalcompetences were 2,79± 0,92 (median 2,93)on average as “I have an idea- I know, but notenough”. The correct answer to 13 theoreticalquestions was an average of 6,96 ± 1,89(median 7). Hematologists performing bloodrotation felt significantly more competent thanthe physicians who could not do the rotation inthe blood bank, blood banking t(52) = -3.9, p <.001 , transfusion medicine and interventionalcompetence t(52) = -2.2, p = .04 . Physicianswho believed that they are sufficient in theblood banking area, were more confident intransfusion medicine r(54) = .67, p <.001 andmanaging interventional procedures r(54) =.85, p <.001.Conclusion: In this study, hematologistsgenerally felt more competent in subjects suchas transfusion and therapeutic apheresis,which they often think of as not having enoughknowledge in the area of blood banking.Hematologists have been more confident inthe field of transfusion medicine as their yearsof expertise increased, but they did not feelbetter equipped in the fields of blood bankingand interventional competence. The currentresults suggested that hematologists who areexpected to be the blood bank supervisors do notinternalize the area of blood banking, are notstrong in their competence, and do not want towork in this area unless they are required.In hematology education curriculum, positiverevisions in education can be achieved byrevising blood banking curriculum and learningobjectives, standardizing blood center rotationswith content and duration, and support fromonline distance education programs.Giriş: Kan ve kan ürünlerinin uygun klinik kullanımı, transfüzyon tıbbı konusunda teorik ve pratik bilgi birikimini gerektirir. Türkiye’de Müfredat Geliştirme ve Standart Belirleme Sistemi Tıbbi Uzmanlık Kurulu tarafından, Hematoloji Uzmanlık Eğitimi Temel Müfredatı hazırlanmıştır. Bu çalışmada hematologların transfüzyon tıbbı müfredatı ile belirlenen öğrenme hedeflerine ulaşımını ve bu durumu etkileyen faktörleri belirlemeyi amaçladık. Metot: 2013 yılından bu yana Türk Hematoloji Derneği üyesi olan hematologlara transfüzyon tıbbı için müfredatı esas alınarak hazırlanan anket “Survey Monkey” uygulaması ile uygulandı. Anket, Likert ölçeği ve teorik çoktan seçmeli bilgi soruları ile öz yeterlilik değerlendirmelerinden oluşuyordu. Sonuçlar: 213 hematologdan 54’ü (%25) çalışmaya katılmıştır. Hematologların yeterlilik algıları klinik yetkinlik alanlarında ortalama 3,65 ± 0,73 (ortanca 3,60) olarak “Biliyorum ama yeterli düzeyde değil”; kan bankacılığı alanında ortalama 3.31 ± 0.84 (ortanca 3.5) puan ile “biliyorum ama yeterli düzeyde değil”; hemaferez ve transfüzyon tıbbı alanında ise ortalama 4.04 ± 0.63 (ortanca 4) “yeterli” olarak ölçüldü. Girişimsel işlemlerde hematologlar mesleki yeterliliklerinin ortalama 2,79± 0,92 (ortanca 2,93) “Bir fikrim var, biliyorum ama yeterli değil” olarak ifade ettiler. 13 teorik sorunun doğru cevabı ortalama 6,96 ± 1,89 idi (ortanca 7). Kan bankası rotasyonu yapan hematologlar yapamayanlara göre kan bankacılığı t(52) = -3.9, p < .001, transfüzyon tıbbı ve girişimsel alanlarda t(52) = -2.2, p = .04 kendilerini çok daha yetkin hissediyordu. Kan bankacılığı alanında yeterli olduğuna inanan hekimler, transfüzyon tıbbında r(54) = .67, p <.001 ve girişimsel işlemlerin r(54) = .85, p <.001yönetiminde de kendilerinden daha eminlerdi. Tartışma: Bu çalışmada, hematologlar genellikle kan bankacılığı alanında yeterli bilgiye sahip olmadığını düşünürken transfüzyon tıbbı ve terapötik aferez gibi konularda kendilerini daha yetkin hissetmistirler. Hematologlar, uzmanlık yılları arttıkça transfüzyon tıbbı alanında kendilerine daha fazla güvenmeye başlarken, kan bankacılığı ve girişimsel yeterlilik alanlarında kendilerini hala yeterli donanımda hissetmiyorlardı. Mevcut sonuçlar, hematologların kan bankacılığı alanını içselleştirmediklerini, yetkinliklerinde güçlü olmadıklarını ve gerekli olmadıkça bu alanda çalışmak istemediklerini göstermiştir. Transfüzyon tıbbı müfredatının ve öğrenme hedeflerinin gözden geçirilmesi, kan merkezi rotasyonlarının içerik ve süresinin standartlaştırılması ve çevrimiçi uzaktan eğitim programları ile desteklenmesi hematoloji eğitimine olumlu katkılar sağlayabilir