Güncel Pediatri / The Journal of Current Pediatrics

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Akut bronşiolitli çocuklarda human paraoksonaz-1 aktivitesi
(Bursa Uludağ Üniversitesi, 2020-08-21) Erenberk, Ufuk; Kahraman, Feyza Ustabaş; Özkaya, Emin; Nursoy, Mustafa Atilla; Demir, Ayşegül Doğan; Türel, Özden
Human paraoksonaz-1 (PON1), oksidatif strese karşı çalışan endojen antioksidan moleküllerden biridir. Bu çalışmada akut bronşiolitli çocuklarda serum PON1 aktivitesini araştırmayı amaçladık. Akut bronşiyolitli 3-21 aylık 29 çocuk ile yaş uyumlu 35 sağlıklı kontrol çalışmaya dahil edildi. Bronşiolit hastaları hafif (% 65) ve orta (% 35) olarak sınıflandırıldı. Akut bronşiolitli hastalar ile kontrol grubu arasında PON1'in paraoksonaz ve arilesteraz aktiviteleri karşılaştırıldı. Akut bronşiyolitli çocukların paraoksonaz aktivitesi sağlıklı kontrollere göre daha düşüktü, ancak fark anlamlı değildi (127.53 ± 64.17 U / L'ye karşı 153.95 ± 74.40 U / L) (p = 0.13). Hafif ve orta derecede bronşiyolitli çocuklarda arilesteraz aktivitesi kontrol grubuna göre anlamlı olarak daha azdı (142.43 ± 56.60 kU / L ve 103.05 ± 26.03 kU / L'ye karşılık 201.09 ± 57.26 kU / L) (p <0.001). Akut bronşiolitli çocuklarda serum PON1 aktivitesi kontrol grubuna göre daha düşüktü. Antioksidan kapasitenin arttırılması, viral kaynaklı akciğer hastalığında etkili bir tedavi aracı olabilir.
Analysis of new biomarkers for the diagnosis of polycystic ovary syndrome in adolescents
(Galenos Yayıncılık, 2021-10-28) Tunç, Selma; Özkan, Behzat
Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine problem with complex diagnosis in adolescents. Therefore, it is important to identify reliable biomarkers that can be used in the diagnosis of PCOS in adolescents. To investigate the diagnostic value of anti-Müllerian hormone (AMH) and inhibin-A (INH-A) and insulin-like peptide-3 (INSL3) in adolescents with PCOS, and to explain the relationship between these hormones and the clinical / laboratory findings of hyperandrogenism. Materials and Methods: Fifty-five girls aged 15-20 years who were diagnosed with PCOS were included in the present study. The control group consisted of healthy adolescents who had regular menstrual cycles for at least two years and were compatible with the study group according to age and body mass index (BMI). The hormonal profile was assessed in the PCOS and control group. Transabdominal pelvic ultrasonography was performed only in the PCOS group. Results: AMH and INH-A levels were found to be significantly higher in the PCOS group than control group. While the INSL3 did not correlate with anthropometric or laboratory parameters, AMH level showed a positive correlation with the WC SDS, waist / hip ratio, FAI, LH, fT and INH-A. Moreover, INH-A level showed a positive correlation with WC SDS, LH, LH / FSH ratio, SHBG and AMH. In receiver-operating characteristic analysis, the cut-off value for AMH for the diagnosis of PCOS in adolescents was 5.8 ng / mL that for INH-A was 9.3 pg/mL (the specificity and sensitivity were 86% and 70% and 66% and 82% respectively). When AMH and INH-A were used in combination, the specificity and sensitivity were 74% and 88%, respectively. Conclusion: INH-A and AMH can be used as new biomarkers for the diagnosis of PCOS in adolescents, while INSL3 has no diagnostic value in this regard.
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA) in an infant with bronchiolitis and dilated cardiomyopathy
(Uludağ Üniversitesi, 2013-03-12) Kayıran, Petek Genç; Kayıran, Sinan Mahir; Gümüş, Terman; Akçevin, Atıf; Dindar, Aygün; Gürakan, Berkan
The most common cause of dilated cardiomyopathy (CMP) is viral myocarditis. However, anomalous origin of the left coronary artery is a rare condition that should be evaluated with high suspicion in the differential diagnosis of an infant with dilated CMP. With early surgical correction, an anomalous coronary artery origin has a good prognosis. Awareness of this condition is essential for prompt diagnosis. This article reports a 5 months-old infant with dilated cardiomyopathy in the setting of RSV bronchiolitis. Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) was the final diagnosis in the infant, who presented as viral myocarditis with RSV infection. She was operated successfully with the direct reimplantation of the coronary artery to the aorta.
Antibiotic usage in the pediatric population: The need for effective role of parents and prescribers
(Bursa Uludağ Üniversitesi, 2021-01-04) Karataş, Yusuf; Khan, Zakir
Antibiotics are an important aspect of pediatric medical treatment and infectious diseases are the leading cause of child mortality. Antibiotics are the cornerstone of the treatment for bacterial infections, and children received these drugs more frequently than any other class of medication. Inappropriate use of antibiotics is of international concern and promotion of appropriate and safe antibiotic usage is the need of the hour. The high percentage of inadequate antibiotic prescriptions in hospitals and the community is reported in the pediatric population around the globe. The improper and excessive use of antibiotics in children leads to resistance and adverse drug reactions (ADRs). Parents and prescribers influence the prescription of antibiotics in children. It is reported that only proper educational intervention by the right people with the right tools for both parents and prescribers can sufficiently improve the problem of inappropriate antibiotic practices and gradually eliminate the risk of antibiotic resistance. This narrative review paper provides an overview of the use, ADRs, allergy, errors, and off-label usage of antibiotics in children and also discusses the important role of the parents and prescriber in the use of antibiotics therapy.
Are indications and findings of upper gastrointestinal system endoscopy changing in children over the years?
(Galenos Yayıncılık, 2021-09-03) Arslan, Melike; Işık, Hilal; Balamtekin, Necati
Introduction: There are few studies of diagnostic endoscopy indications in children, despite the fact that it is a commonly performed procedure. The aim of the present study was to determine the relation between indications for upper gastrointestinal system (GIS) endoscopy and endoscopic and histopathologic findings in children in an effort to minimize unnecessary procedures. Materials and Methods: The hospital files of 501 children and adolescents 1-18 years of age who underwent diagnostic upper GIS endoscopy examinations between June 2017 and June 2020 were evaluated retrospectively. Results: The mean age of the 501 patients was 14.5±3.1 years and 311 (62.0%) were female. The most common indications for esophagogastroduodenoscopy (EGD) were epigastric pain (38.7%) and abdominal pain (29.3%) with abnormal endoscopic and histopathologic findings of 88.6% and 92.6%, respectively. The co-detection rates of endoscopic and histologic abnormalities for the esophagus, stomach, and duodenum were 71.8%, 97.6%, and 55.8%, respectively. The most commonly detected endoscopic findings were antral gastritis (66.4%), pangastritis (18.0%), bile reflux (12.6%), and duodenitis (9.4%). The most commonly detected histopathologic findings were chronic gastritis (45.3%), chronic Helicobacter pylori gastritis (37.3%), edematous gastric mucosa (5.4%), coeliac disease (4.4%), and esophagitis (4.4%). No complications were associated with the procedure itself or the required sedation. Conclusion: Diagnostic endoscopy indications may vary between countries and centers. It has been established by many studies that the rates of negative endoscopic procedures and complications associated with EGD are high; therefore, the determination of accurate indications for this procedure is important.
The association between obesity, being overweight and socio-economic status among school-age children living in big cities
(Bursa Uludağ Üniversitesi, 2020-12-31) Aka, Sibel; Arapoğlu, Mujde
Introduction: Obesity has become a serious health concern worldwide. Risk factors of obesity are different in urban and rural areas. The aim of this study was to determine the risk factors related to obesity and being overweight among children in low and high socio-economic groups in a big metropolitan city, Istanbul. Materials and Methods: A cross-sectional study was carried out on 490 school age children between 5 and 15 years. Low and high socio-economic groups were determined according to socio-economic status (SES). Socio-demographic characteristics of children were collected from the parents. Results: The effect of having frequent snacks rich in carbonhydrates (p=0,001) and sedentary lifestyles (p=0,001) on BMI was significant in both SES groups. In high SES group, BMI of the <10 years boys was significantly higher than that of the <10 years girls; Boys also had higher BMI at both age groups of either younger or older than 10 years. In low SES group, girls were significantly more overweight than boys. High family income, high paternal BMI and consuming energy rich products increased the obesity risk in children 1,560 times (OR: 1,560, %95 CI: 1,046-2,326), 2,015 times (OR: 2,015, %95 CI: 1,092-3,720), and 4,33 times (OR: 4,330, %95 CI: 2,897-6,472), respectively. Conclusions: As conclusion, high family income, high paternal BMI and consuming energy rich products incre-ased the obesity risk. We suggest that every community has own characteristics but boys tend to have high BMIs in families with high SES.
Bronkopulmoner displazide risk faktörleri
(Uludağ Üniversitesi, 2008) Özkan, Hilal; Köksal, Nilgün; Çetinkaya, Merih; Canıtez, Yakup; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; Çocuk Alerji Bilim Dalı
Amaç: Bronkopulmoner displazi (BPD) oksijen ve pozitif basınçlı ventilasyon ile tedavi edilen prematüre bebeklerde gelişen kronik bir akciğer hastalığıdır. Yenidoğan bakımındaki tüm gelişmelere rağmen preterm bebeklerde en sık görülen uzun dönem komplikasyonudur. Bu çalışmanın amacı yenidoğan yoğun bakım ünitesinde izlenen ve BPD gelişen olguların değerlendirilmesi, BPD sıklığı- nın belirlenmesi ve BPD ile ilişkili risk faktörlerinin saptanmasıdır. Gereç ve Yöntem: Çalışmaya Ocak 2005 ile Ocak 2006 tarihleri arasında Yenidoğan Yoğun Bakım Ünitesine yatırılarak izlenen 276 prematüre bebek alındı. İzlemlerinde BPD gelişen ve gelişmeyen bebekler karakteristik özellikler ve risk faktörleri açısından karşılaştırıldı. Bulgular: Hastaların gestasyon yaşları ortalama 31±3,1(24-36) hafta, doğum ağırlıkları ortalama 1607±610 (500-4000) gram idi. Çalışmaya alınan hastaların %30’unda (84/276) BPD saptandı. BPD gelişen olguların ortalama gestasyon haftası 30±3 (24-36), doğum ağırlıkları 1171±423 (530-3700) gram bulundu. BPD saptanan bebeklerin %36’sı (31/84) 28 haftadan küçük ve %41,9’unun (26/84) do- ğum ağırlığı 1000 gramın altında idi. BPD gelişimi için en önemli risk faktörlerinin gestasyon haftası ve doğum ağırlığı olduğu, gestasyon haftası ve doğum ağırlığı küçüldükçe BPD riskinin arttığı görüldü. BPD gelişen olgularda mekanik ventiasyon süresi 40±4,3 gün iken, BPD gelişmeyenlerde 17±2 gün olarak bulundu ve farklılık istatistiksel olarak da anlamlı idi (p<0,05). Benzer şekilde oksjen tedavi süresi, BPD’li olgularda, BPD olmayanlara oranla anlamlı yüksekti (p<0,05). Ayrıca respiratuvar distres sendromu, intraventriküler hemoraji, annede koriyoamniyonit varlığı, uzamış total parenteral nütrisyon, sık transfüzyon BPD gelişimi ile anlamlı olarak ilişkili bulundu. Sonuç: BPD multifaktöriyel olarak gelişmektedir. Ancak en önemli risk faktörü prematürite, düşük doğum ağırlığı, mekanik ventilasyon ve uzun süreli oksijen kullanımıdır. En etkin koruma prematüre doğumların önlenmesi, mekanik ventilasyon süresinin azaltılması ve oksijenin gerekli olan en az dozda verilmesi ile mümkün olmaktadır.
The characteristics of non-diabetic mothers with macrosomic newborns
(Uludağ Üniversitesi, 2016-02-23) Kaymaz, Nazan; Cevizci, Sibel; Yıldırım, Şule; Aylanç, Hakan; Bulur, Nurcan; Gencer, Meryem; Topaloğlu, Naci; Binnetoğlu, Fatih Köksal; Tekin, Mustafa; Battal, Fatih; Coşar, Emine
Introduction: Fetal macrosomia is a condition with heterogeneous etiologic factors and its’ frequency is increasing in recent years. Many macrosomic infants are born without any risk factors and accurate prediction of macrosomia is not possible with only single risk factor. The aim of this study was to research the characteristics of healthy mothers without diabetes who gave birth to macrosomic infants. Materials and Methods: This case-control study comprised 291 healthy pregnant women who were monitored and delivered at Mardin Women and Children’s Hospital. Inclusion criteria were (a) no disease or conditions that may affect birth weight, (b) normal healthy pregnancy and (c) singleton live infants born between 37-42 weeks with no structural defects. A birth weight above 4.000 g was defined as macrosomic neonate. The study group was divided in two; group 1 had a birth weight less than 4.000 g and group 2 had a birth weight above 4.000 g. Characteristics of mother and newborn were analyzed to determine any association with macrosomia. Results: The logistic regression analysis results indicated that the risk of macrosomic infant were male gender of the infant [odds ratio (OR): 3.39; 95% confidence interval (CI): 2.010-5.211; p<0.001], maternal age being above 35 years (OR: 2.25; 95% CI: 1.919-4.005; p=0.026) and duration of gestation being above 40 weeks (OR: 1.72; 95% CI: 1.103-2.949; p=0.009). Conclusions: There are various factors behind having a macrosomic infant in the absence of glucose intolerance.These risk factors should be taken into consideration for possible complication of macrosomia and mothers with the risk factors should be informed.
Clinical characteristics and treatment outcomes of patients with malignant extracranial germ cell tumors: A 20-year single-center experience
(Galenos Yayıncılık, 2021-04-02) Küpesiz, Funda Tayfun; Tüysüz, Gülen; Akınel, Ayşe Nur; Tekneci, Ayşegül; Sivrice, Ayşe Çiğdem; Melikoğlu, Mustafa; Pestereli, Hadice Elif; Küpesiz, Osman Alphan; Güler, Elif
Introduction: Germ cell tumors account for 2–3% of all pediatric tumors. The aim of this study was to evaluate the clinical features and treatment outcomes of pediatric patients treated and followed up for extragonadal MGCTs in our center. Materials and Methods: A total of 41 patients diagnosed with MGCTs in the pediatric oncology department of Akdeniz University between June 1999 and June 2019 were evaluated retrospectively. Results: Twenty-nine (71%) of the patients were girls and female dominance (p<0.001). The median age was 3.22 (0–18) years. The most patients in the ≤ 5year age group (p<0.001). Nineteen (44%) of the tumors were gonadal and 22 (54%) were extragonadal. The most common histolology of MGCTs were yolk sac tumor (36%), mixed GCTs (29%), immature teratoma (20%), and dysgerminoma (15%). Twenty-five (61%) patients presented with advanced stage disease and 37 patients (90%) were treated with chemotherapy. The patients with stage I testicular and stage I ovarian germ cell tumors underwent complete tumor resection followed by a watch-and-wait approach with alpha fetoprotein monitoring without chemotherapy. Of six patients with relapse/refractory disease, two patients survived. Two patients who underwent autologous stem cell transplantation showed complete response but later died due to infection. The median follow-up period of the patients was 34.9 (4–190.6) months and the 10-year overall and disease-free survival rates were 77.1±6.8% 77.1±6.8%. Two relapsed refractory patients who underwent autologous transplantation survived at a mean of 33.21 months. Conclusions: The clinical features and treatment outcomes of the patients in our study were consistent with the literature. The fact that most of our patients were symptomatic at presentation and had advanced stage disease when diagnosed highlights the importance of detailed evaluation and examination. Although good outcomes are achieved in patients with early stage disease, new treatment approaches are needed for patients with advanced and relapsing disease
Clinical features and quality of life in duchenne and becker muscular dystrophy patients from a tertiary center in Turkey
(Bursa Uludağ Üniversitesi, 2021-01-15) Köken, Özlem Yayıcı; Kucur, Özge; Taşkıran, Candan; Sel, Çiğdem Genç; Öztoprak, Ülkühan; Aksoy, Erhan; Aksoy, Ayse; Yoldaş, Tamer; Yüksel, Deniz
Introduction: Duchenne Muscular Dystrophy (DMD) and Becker Muscular dystrophy (BMD), are chronic and progressive and rare genetic disorders that cause systemic involvement such as progressive muscle deterioration, motor disability, cardiomyopathy, and respiratory problems, with an increased risk of cognitive decline and psychological problems They are a group of neuromuscular diseases in which psychological problems affect negatively on quality of life (Qol) not only patients but also caregivers. This study demonstrates the clinical features of patients with DMD/BMD and their caregivers and compares controls with respects to psychological and social aspects. Materials and Methods: A total of 20 patients (3 with BMD and 17 with DMD), aged between 8 and 18 years, and 20 age-matched healthy children were included in this descriptive and cross-sectional study. The patients were evaluated by the pediatric neurology, cardiology, and psychiatry departments at the study time. Their demographic and clinical features were recorded. The Wechsler Intelligence Scale for Children-Revised (WISC-R), Pediatric Quality of Life Inventory (PedsQL) and its parent form, and the Strengths and Difficulties Questionnaire (SDQ) were applied to all of the participants. Results: The QoL scores were lower in patients with moderate and severe DMD/ BMD and their caregivers. In patients with DMD and in both groups, emotional symptoms, peer problems and prosocial behavior scores were higher in the subsets of the SDQ. The PedsQL child-parent scores were lower in all of the subsets with statistical significance. Conclusions: DMD and BMD comprise a group of chronic diseases with multiple complications that are difficult to manage. A QoL equal or close to that of the healthy children should be targeted. Today, proposed or experimental treatments for this disease group are assessed based on their ability to enhance QoL. Inquiring into the QoL and counseling should become routine.
Clinical outcomes of acute renal failure in children
(Uludağ Üniversitesi, 2009) Dönmez, Osman; Durmaz, Oğuzhan; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; Çocuk Nefroloji Bilim Dalı
Aim: The aim of this study was to investigate the etiological factors, clinical progression and management of acute renal failure (ARF) in hospitalized children. Materials and Method: Medical records of 63 patients aged between 1 month and 18 years who were hospitalized at Uludag University, Department of Pediatrics or at various intensive care departments of the faculty and diagnosed with ARF between January 2005 and August 2006 were retrospectively analyzed. Results: Forty two of study patients were male and 21 were female. Mean age was 5.4±5.3 years. ARF was found in 4.9% of all hospitalized patients. Sepsis was the most frequent etiological factor with a ratio of 23.8%; which was followed by gastroenteritis (19.1%), tumor lysis syndrome (17.4%) and cardiac surgery (15.9%). Oliguria, sepsis, hyperkalemia, acidosis and dialysis were found to be associated with increased mortality (p<0.05). The mortality rate in the study population was 49.2%. Conclusion: Dialysis and mechanical ventilation was found to be associated with a poor outcome in our patients.
Çocukluk çağı kraniyofaringiyoma olgularının klinik ve laboratuvar bulguları
(Bursa Uludağ Üniversitesi, 2020-06-20) Söbü, Elif; Eren, Erdal; Sevinir, Betül; Taşkapılıoğlu, M. Özgür; Tarım, Ömer; Tıp Fakültesi; Beyin ve Sinir Cerrahisi Ana Bilim Dalı; 0000-0002-1684- 1053; 0000-0002-3232-7652; 0000-0001-5472-9065; 0000-0002-5322-5508
Bu çalışmada çocukluk çağı kraniyofaringioma olgularının klinik ve laboratuar bulguları ve izlem süresince karşılaşılan endokrin sorunların değerlendirilmesi amaçlanmıştır. Çalışmaya Ocak 2010-Aralık 2017 arasında kraniyofaringiyoma tanısı alan olgular dahil edildi. Demografik ve klinik veriler Uludağ Üniversitesi Tıp Fakültesi Çocuk Endokrinoloji poliklinik dosyalarından retrospektif olarak değerlendirildi. İstatistiksel analizler için SPSS software version 21 kullanıldı. Sekiz yıllık süreçte tanı alan 28 olgu çalışmaya dahil edildi. Olguların yaşları 60-207 ay arasında değişmekte olup median yaş 138,5 aydı. Cinsiyet dağılımlarına bakıldığında %53 erkek(n=15) ve %47 kızdı (n=13). En sık başvuru bulguları sırayla başağrısı, görme bozuklukları ve boy kısalığıydı. Tanı anında olguların %71’inde (n: 20) tümör boyutu 3 cm’den büyüktü. Preoperatif dönemde büyüme hormonu eksikliği %17(n=5) ve hipotiroidizm %14(n=4), hipokortizolemi %10 (n=3), diyabet insipit %7,1(n=2) sıklıkta saptandı. Postoperatif dönemde olguların %89,3’ünde çoklu hipofizer hormon eksikliği saptandı. Kraniyofaringiyomalar yavaş büyüyen tümörler olup genellikle geç tanı alır. Geç tanı ve tümör boyutunun büyük olması sıklıkla endokrin kayıpların daha ciddi olmasına yol açar. Büyümede duraksama ve ilerleyici kilo artışı hipofizer kitlelerin erken tanısı açısından uyarıcı bulgulardır.
Colchicine poisoning in children: 7 case reports
(Uludağ Üniversitesi, 2009) Karacan, Mehmet; Olgun, Haşim; Yıldırım, Zuhal Keskin; Karakelleoğlu, Cahit; Ceviz, Naci
Colchicine is a drug that has been used primarily in several diseases. Colchicine poisoning is an infrequent but potentially life-threatening problem characterized by multiorgan involvement. We present seven children with colchicine poisoning. Their ages ranged between 1 and 9 years. In six children, the amount of colchicine consumed was between 0.16 and 0.39 mg/kg; the most frequent findings were diarrhea and vomiting. In one patient, the ingested amount was unknown. One of the patients died and all others recovered without sequelae. The severity of colchicine poisoning tends to be related to the dosage of ingested drug and the time of admission to hospital. Symptomatic treatment should be started as soon as possible in colchicine poisoning.
Comparison of corrected QT and Tp-e/QTc interval in intoxication with drugs that cause QT prolongation in children
(Bursa Uludağ Üniversitesi, 2020-12-18) Gökay, Sinem Sarı; Tutun, Buğra
Introduction: Childhood intoxications are among the most common reasons for admission to the emergency department. The aim of this study is to evaluate whether there is a primary marker that can determine the risk of arrhythmia by comparison of QT, QTc, QT/QTc, Tp-e/QT, Tp-e/QTc intervals in drug intoxications with prolonging QTc which can be fatal by causing arrhythmia in children. Materials and Methods: In this study, 55 patients who were admitted to Pediatric Emergency Department of Training and Research Hospital between January 2018 and August 2019 within the first 6 hours due to intoxication with QTc prolongation and followed up in our pediatric emergency department were retrospectively reviewed. In patients hospital records, age, sex, medication, time of application, clinical and physical examination findings, vital signs, treatments and results, laboratory findings, electrocardiogram findings at the time of admission hospital and in the 6. hour control, QT, QTc, Tp-e, Tp-e/QT and Tp-e/QTc times were recorded. Results: The median age of the patients in study was 155±77.2 months. The number of female patients was 33 (60%) and the number of male patients was 22. There was a statistically significant difference between leukocyte count, hemoglobin, platelet,bun, creatinine, SGPT and calcium values at the time of admission and control at the 6th hour. There was no statistically significant difference between CK-MB and troponin levels. Also, there was no statistically significant difference between QT, QTc, QT/QTc, Tp-e/QT and Tp-e/QTc intervals. But there was a statistically significant difference between Tp-e/QTc ratio and gender. Conclusions: Although QTc interval continues to be used to determine the risk of arrhythmia in children with drugs prolonging QTc, it may be significant to compare Tp-e and Tp-e/QTc ratio. However, studies involving a larger number of patients are needed to determine whether Tp-e interval and Tp-e/QTc ratio are a priority marker.
Congenital heart disease in an infant with 49,XXXXY syndrome
(Uludağ Üniversitesi, 2014-05-06) Argun, Mustafa; Akin, Mustafa Ali; Kurtoglu, Selim; Sarıca, Dilek; Özyurt, Abdullah; Pamukcu, Özge; Baykan, Ali
49,XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46,XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49,XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot’s tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49,XXXXY syndrome with patent ductus arteriosus closed with the transcathater route.
Correctable cause of dilated cardiomyopathy in an infant with heart failure: ALCAPA syndrome
(Uludağ Üniversitesi, 2015-08-19) Güvenç, Osman; Saygı, Murat; Öztürk, Erkut; Güzeltaş, Alper
Anomalous origin of the left coronary artery arising from pulmonary artery ALCAPA syndrome is a rare congenital heart disease seen in children. If untreated, it may lead to congestive heart failure, dilated cardiomyopathy (DCM), ischemic and arrhythmic complications may lead to patient’s death. ALCAPA is diagnosed with echocardiography; in the patients of suspected diagnosis, computerized tomography, magnetic resonance imaging and cardiac catheterization are used for further testing. Surgically correctable ALCAPA syndrome must be considered as etiology of DCM in children. In this report, we presented the case of an infant that was referred to our center with the diagnosis of DCM, who was echocardiographically diagnosed with ALCAPA syndrome and successfully treated with surgery, as well as a review of recent literature.
Demographic and laboratory findings of symptomatic and asymptomatic COVID-19 in children
(Galenos Yayıncılık, 2021-10-21) Çelik, Binnaz; Doğan, Murat; İnan, Doğan Bahadır; Sunkak, Süleyman; Saatçi, Esma; Tubaş, Filiz
Introduction: Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is a newly described pathogen that is usually transmitted by droplets between person to person. Although the clinical spectrum of COVID-19 ranges from asymptomatic disease to the development of severe acute respiratory distress, children are generally milder than adults. It was aimed to compare the clinical and laboratory values of symptomatic and asymptomatic children followed up with a diagnosis of COVID-19 in this study. Materials and Methods: The records of children with nasopharyngeal swab SARS-CoV-2 Reverse Transcriptase-Polymerase Chain Reaction test positive were analyzed retrospectively. Children with symptoms such as fever, cough, shortness of breath, diarrhea and/or vomiting were accepted as symptomatic, and children with positive SARS-CoV-2 PCR in a nasopharyngeal swab taken only due to contact history and have no symptoms were considered asymptomatic. Results: A total of 197 patients, 47 (23.8%) symptomatic and 150 (76.2%) asymptomatic, were included in the study. The mean age of the children was 9.1±5.2 years (range, 1 month-17 years). Cough (8.6%) was the most common symptom at admission. When the symptomatic and asymptomatic children were compared in terms of white blood cell (WBC), WBC subgroups, C-reactive protein there was no statistically significant difference. No significant increase was found in the CRP values of symptomatic patients. Ground-glass opacities compatible with COVID-19 was detected in only 10 (30%) of 33 symptomatic patients who underwent thoracic tomography. Conclusion: COVID-19 is usually mild in children. At the same time, a significant change in laboratory parameters and imaging findings may not be observed in symptomatic and/or asymptomatic children with positive SARS-CoV-2 PCR.
Demographics of the open-globe injuries in pediatric age group in Northwest Turkey
(Uludağ Üniversitesi, 2016-04-21) Kıvanç, Sertaç Argun; Budak, Berna Akova; Özmen, Ahmet Tuncer; Yıldız, Meral; Çevik, Mediha Tok; Hamidi, Nagihan Amuk; Tıp Fakültesi; Göz Hastalıkları Ana Bilim Dalı
Introduction: Our aim was to investigate the pattern of open globe injury and assess the effect of age on different parameters of open globe injury in pediatric patients. Materials and Methods: The medical records of the patients under 18 years old who had open-globe injury were retrospectively reviewed. Age, gender, the cause of the trauma, presence of intraocular foreign body and the extent of the ocular damage were recorded. Results: The study was comprised of 79 patients (23 female, 56 male) with a mean age of 7.7±4.4 (range: 2-18 years). Thirty-nine patients were injured with a blunt tip object, 27 with a sharp object and one has rupture with trauma. Thirty-five injuries occurred outside and 45 at home. The season in which most of the injuries took place was summer (32%). Seventy-five percent of the injuries were noted in 11 years and under. The mean age subject to blunt tip object injury, organic body injury and outdoor injury was significantly higher compared to that of with sharp object, inorganic body injury and indoor injury. Conclusions: The open globe-injury rates in Northwest Turkey is found to be higher in smaller age groups. Making the parents aware of the danger and consequences of the trauma and avoiding the easily accessible sharp objects may decrease the trauma rates.
Diagnostic discordance-based inferences regarding imaging modalities in children with a preliminary diagnosis of choledochal cyst: Clinical experience and review of literature
(Galenos Yayıncılık, 2021-04-25) Özçakır, Esra; Kaya, Mete; Tıp Fakültesi; Çocuk Cerrahisi Ana Bilim Dalı; 0000-0002-0773-7430; 0000-0002-8877-5737
Introduction: Definitive diagnosis is essential for the medical and surgical management of pediatric patients with a preliminary diagnosis of a choledochal cyst. Our study aimed to investigate the roles of Magnetic Resonance Cholangiopancreatography (MRCP), Intraoperative Cholangiography (IOC) in differential and definitive diagnosis of choledochal cyst by comparing their results with the intraoperative gross pathological appearance. Materials and Methods: The medical records of seven pediatric patients preliminary diagnosed with choledochal cyst between May 2014 and January 2021 in our clinic, were retrospectively reviewed. We investigated the clinical characteristics, the MRCP and IOC results, and compared their results with the intraoperative gross pathological findings of patients with preliminarily diagnosed choledochal cyst. We evaluated the outcomes involving the preliminary diagnosis and subtype of choledochal cyst with MRCP preoperatively and with IOC and gross pathological findings intraoperatively. Results: Six patients had undergone a laparotomy and IOC procedure, and their results were: in three, the MRCP and IOC results were consistent, both revealing a Type-I choledochal cyst; in another patient, MRCP revealed a Type IV choledochal cyst, whereas IOC showed a Type-I choledochal cyst; one patient reported having a Type-II choledochal cyst in MRCP turned out to have a duodenal duplication cyst intraoperatively; the sixth operated patient had an MRCP result of Type-I choledochal cyst, but the IOC was consistent with biliary atresia and severe hydropic bile stasis. The last child was a non-operated patient whose MRCP revealed a Type-I choledochal cyst whereas contrast-enhanced liver magnetic resonance showed a simple liver cyst. Conclusions: Even though MRCP is valuable regarding choledochal cyst’s differential diagnosis, we should confirm its diagnosis by IOC and intraoperative gross pathological view because other pathologies might appear similar to choledochal cyst in MRCP.
Evaluation of 36 patients with rare factor deficiency
(Galenos Yayıncılık, 2021-06-01) Üzel, Veysiye Hülya; Yılmaz, Kamil; Öncel, Kahraman; Tekin, Suat; Söker, Murat
Introduction: Rare factor deficiencies are predominantly autosomal recessively inherited disorders with a frequency of approximately 1: 500000 to 1: 2000000 in the general population. They account for 3-5% of all inherited coagulation disorders. In this study, we aimed to evaluate the demographic features and clinical findings of 36 patients who were followed up and treated with the diagnosis of rare factor deficiency. Materials and Methods: A total of 36 patients aged between 0-16 years diagnosed with rare coagulation deficiencies were evaluated in terms of demographic, physical examination, clinical follow-up, and laboratory findings at the Dicle University Pediatric Hematology Unit. Ethics committee approval was obtained from Dicle University for the study on 16.03.2018 with decision no 115. Results: Rare factor deficiencies were diagnosed in 36 (35 %) of 103 patients who were followed up with coagulation disorders. Hemophilia a, hemophilia b, and von Willebrand disease constituted 67 of our patients. Familial consanguinity was present in 75, 6 %, and positive family history was found at 16.6% of the patients. 11 (32.4%) of our patients were diagnosed under the age of one year. Most of our patients diagnosed with factor X deficiency (38.8%). The most common symptoms were mucocutaneous bleeding (50%). Intracranial hemorrhage was detected in 7 (%19,5) patients. Conclusions: Early diagnosis and treatment are very important in the case of rare factor deficiency since severe bleeding complications such as intracranial hemorrhage may develop. Rare factor deficiencies are seen more frequently in places where consanguineous marriage is more common than the general population. Families should be informed about this issue, and family screening should be done early.

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