Purpose: The aim of this study was was to compare the effectiveness and outcomes of non-invasive ventilation (NIV) methods in neonates diagnosed with lower respiratory tract infections (LRTI). Materials and Methods: A prospective study was conducted in neonates with LRTI treated with high-flow nasal cannula (HFNC), nasal continuous positive airway pressure (NCPAP), or nasal intermittent positive pressure ventilation (NIPPV) in the neonatal intensive care unit. Method failure was defined as switching to another NIV method within 6 hours based on clinical and laboratory findings. The groups were compared for clinical and laboratory findings, length of hospital stay, outcomes, success rates, and complications. Results: One hundred and six neonates were included with a median gestational age of 38 weeks and birth weight of 2991 +/- 673 g. Downes scores at admission were significantly higher in the NCPAP group than in the others. The HFNC group had better of blood pH and CO2 levels but had a higher rate of treatment failure. NCPAP was associated with the highest success rate (86.8%), followed by NIPPV (78.7%) and HFNC (52.4%). The length of hospital stay was shorter in patients successfully treated with NCPAP and NIPPV. According to the logistic regression analysis, NIPPV significantly reduced the risk of failure compared to HFNC. Conclusion: NIPPV and NCPAP were more effective than HFNC in the management of neonatal LRTI with shorter hospital stay. HFNC may be effective in stabilizing baseline respiratory parameters in the management of neonatal LRTI.

İslami bilgi üretimi ve paylaşımının dijital dönüşümü kapsamında yapay zekâ uygulamalarının dinî sorulara verdiği cevapları inceleyen bu araştırma, Din İşleri Yüksek Kurulu fetvaları ile ChatGPT, Google Gemini ve Microsoft Copilot sistemlerinin cevaplarını karşılaştırmalı olarak analiz etmektedir. İbadetler özelinde seçilen 20 fetva sorusuna verilen toplam 80 cevap, içerik analizi yöntemiyle incelenmiştir. Bulgular; yapay zekâ uygulamalarının temel dinî hükümlerde genel bir mutabakat sergilediğini, ancak detaylı meselelerde farklılaşarak hatalı fetvalar verebildiğini, tutarsızlıklar gösterdiğini ve birbirleriyle çelişkili hükümler bildirdiğini ortaya koymaktadır. Bu araştırmada elde edilen sonuçlar, yapay zekâ teknolojisinin dinî bilgi üretimi ve paylaşımında tek başına bir fetva kaynağı olarak görülmemesi gerektiğini ancak yardımcı bir araç olarak kullanılabileceğini göstermektedir.

Objective: This study aimed to determine the clinical efficacy of erythrocyte transfusion (ET) in premature infants. Material and Methods: Very low birth weight (VLBW) infants with gestational age (GA) < 32 weeks and/or birth weight (BW) <1500 g and hospitalized in neonatal intensive care unit (NICU) between 2012-2018 were retrospectively evaluated. ET was performed according to Ohls 2007 and Turkish Neonatalogy Society Blood Products Transfusion Guidelines. Results: 72 infants included in this study. Mean BW was 1325 g (680-2290 g), GA was 30 weeks (25-32), median postnatal age was 36.7±26.9 days (8-129), number of ET during hospitalization was 2±1.2 (1-6). There were no significant changes in mean heart rates (p=0.183) and median respiratory rates before and after ET (p=0.123). Weight gain (16 g/day-11 g/day) was statistically similar before and after ET (p=0.861). A significant decrease in apnea, non-invasive ventilation (NIV) and caffeine therapy requirements after ET was determined (p<0.001, p=0.016 and p=0.016). Serum lactate (2.9-1.5) levels were decreased by ET (p=0.017). Conclusion: Premature infants should closely follow-up for anemia and related symptoms during NICU stay. ET may help to decrease frequency of apnea of prematurity, requirements of caffeine therapy and NIV. ET improves tissue oxygenation in VLBW infants with anemia. Decision of ET should be made according to severity of symptoms, and should be performed according to international, national or local transfusion guidelines.

Objective: Pneumonia is an important disease that causes sepsis in newborns and constitutes the majority of deaths due to infections, especially in developing countries. Pulse oximeters that are widely used in clinics, can determine heart rate, arterial oxygen saturation, additionally perfusion index (PI). In this study, the role of PI in determining the severity and prognosis of the disease in newborns with late-onset pneumonia (LOP);the relationship between PI and respiratory support need and Silverman Anderson Retraction Score (SAS) were aimed to determine. Material(s) and Method(s): In this prospective study, 30 term newborns diagnosed with late-onset pneumonia (LOP) were at the time of hospitalization,at the 24th hours of their treatment, and discharge;in the control group, PI measurements were made from the right upper extremity every 10 seconds for 3 minutes at the discharge of 30 term healthy newborns between December 2017 and June 2018. By comparing the data, it was aimed to determine the relationship of PI with the severity of the disease, prognosis, need for respiratory support and Silverman Anderson Retraction Score (SAS). Result(s): Their mean birth weights was 2000 - 4600 g the mean was 3570 g in the study, 2800 - 4100 g the mean was 3610 g in the control group and there was no significant difference (p>0.05);Gestational ages were 365/7 - 413/7, mean 392/7 in the study group, 373/7 - 405/7 in the control group, mean 396/7 weeks, and the statistical difference between the groups was not significant (p>0.05). The ratio of female/male was similar in the groups. Their median age was 9.5 days (3-27) in the control, 21 days (5-28) in the study group, and higher in the study group (p<0.05). The median capillary refill time was 1.7 seconds in the control, 1.6 seconds in the study group, and similar between the groups. The mean PI was 2.3+/-0.9 in the control group. In the study group, it was 3.6+/-1.2 on hospitalization, 3.2+/-1.2 on the first day, 3.4+/-0.7 at discharge. In the study group, PI values on hospitalization and first day were higher (p<0.05). There were reticular infiltration 50% bilateral, 30% right paracardiac, 10% left paracardiac, 3.3% right lower lobe. Alpha hemolytic streptococci in 1 (3.3%), Acinetobacter iwoffii in 1 (3.3%), Respiratory syncytial virus 6 (20%), Coronavirus 4 (13.3%), Rhinovirus 2 (6.7%) and Influenza A 1 (3.3%) patient were determined. We applied free flow oxygen 17 (56.7%), oxygen by hood 5 (16.7%), heated humidified high-flow nasal cannula 1 (3.3%), nasal continuous airway pressure 4 (13.3%), nasal intermittent positive pressure ventilation 4 (13.3%) cases. PI was higher in the patients needing positive pressure on admission (p<0.05). A positive correlation was found between SAS and PI on admission in the study group (p=0.008). The number of patients whose PI decreased during hospitalization increased over time. Conclusion(s): In the neonates with LOP, the severity of the disease, the need for respiratory support and prognosis cannot be predicted by PI. There was no relation between SAS and PI. It was concluded that more accurate results can be achieved by measuring PI using more patients, more sensitive probes and technically more advanced monitors. New studies should be conducted to determine the role of PI in demonstrating well-being and early detection of life-threatening conditions in the healthy newborns. Copyright © 2022 Ankara Pediatric Hematology Oncology Training and Research Hospital. All rights reserved.

Amaç: Pnömoni yenidoğanlarda sepsise neden olan önemli bir hastalık olup özellikle gelişmekte olan ülkelerde enfeksiyonlara bağlı ölümlerin çoğunluğunu oluşturmaktadır. Kliniklerde yaygın kullanılan nabız oksimetreler kalp atım hızı, arteriyal oksijen doygunluğu yanında perfüzyon indeksini (PI) de belirleyebilmektedir. Bu çalışmada geç başlangıçlı pnömoni (GBP) gelişen yenidoğanlarda PI’nin hastalığın şiddeti ve prognozunu belirlemedeki rolü;PI ile solunum destek ihtiyacı ve Silverman Anderson Retraksiyon Skorlaması(SAS) arasındaki ilişkinin belirlenmesi amaçlanmıştır. Gereç ve Yöntemler: Bu prospektif çalışmada Aralık 2017 - Haziran 2018 arasında geç başlangıçlı pnömoni (GBP) tanılı 30 term yenidoğanın yatışında, tedavininin 24.saati ve taburculuğunda; kontrol grubunda ise 30 term sağlıklı yenidoğanın taburculuğunda 3 dakika boyunca 10 saniyede bir sağ üst ekstremiteden PI ölçümleri yapılmıştır.Veriler karşılaştırılarak PI’nin hastalığın şiddeti, prognozu, solunum destek ihtiyacı ve Silverman Anderson Retraksiyon Skorlaması (SAS) ile ilişkisinin belirlenmesi amaçlanmıştır. Bulgular: Olguların doğum ağırlığı ortalama çalışma grubunda 3570 g (2000-4600), kontrol grubunda 3610 g (2800–4100)olup aralarında fark yoktu (p>0.05). Gebelik yaşları ortalama çalışma grubunda 392/7 (365/7–413/7), kontrol grubunda 396/7 (373/7-405/7) hafta olup aralarındaki fark anlamlı değildi (p>0.05). Gruplarda kız/erkek oranı benzerdi. Yaş ortancası kontrol grubunda 9.5 (3-27), hasta grubunda 21 gün (5-28) olup hasta grubunda daha yüksekti (p<0.05). Ortanca kapiller dolum zamanı kontrol grubunda 1,7; hasta grubunda 1.6 saniye olup aralarında fark yoktu (p>0.05). Ortalama PI kontrol grubunda 2.3±0.9; çalışma grubunda yatışta 3.6±1.2, birinci gün 3.2±1.2, taburculukta 3.4±0.7’di. Çalışma grubunun yatış ve birinci gün PI değerleri, kontrol grubundan yüksekti (p<0.05). Hastalarda %50 bilateral, %30 sağ parakardiyak, %10 sol parakardiyak, %3.3 sağ alt lobda retiküler infiltrasyon vardı. Kan kültürlerinde alfa-hemolitik streptokok 1 (%3.3), Acinetobacter iwoffii 1 (%3.3); solunum yolu sekresyonlarında Solunum Sinsityel Virus 6 (%20), Coronavirüs 4 (%13.3), Rhinovirüs 2 (%6.7) ve İnfluenza A 1 (%3.3) olguda gösterildi. Serbest akış oksijen 17 (%56.7), hoodla oksijen 5 (%16.7), ısıtılmış nemlendirilmiş yüksek akışlı nasal kanül 1 (%3.3), nasal sürekli hava yolu basıncı 4 (%13.3), nasal aralıklı pozitif basınçlı ventilasyon 4 (%13.3) olguya uygulandı. Yatışta basınç ihtiyacı olanlarda PI daha yüksekti (p<0.05). Çalışma grubunda yatıştaki SAS ile PI arasında pozitif korelasyon saptandı (p=0.008). Yatış süresince PI düşen hasta sayısının arttığı saptandı. Sonuç: Yenidoğanlarda GBP’lerde hastalığın şiddeti, solunum destek ihtiyacı ve prognozun PI ile öngörülemediği; SAS ile PI arasında ilişki olmadığı gösterildi. Güvenilir veriler için daha çok olgu, hassas prob ve monitörlerle çalışma yapılması gerektiği sonucuna varıldı. Ayrıca, sağlıklı yenidoğanlarda PI’nin iyilik halini gösterme ve hayati tehlikeyi erken saptamadaki rolünün belirlenebilmesi için yeni çalışmalar yapılmalıdır.

Objective: Echocardiography is an important and pratical diagnostic tool for early diagnosis and follow-up of CHD. In our study, we aimed to evaluate the frequency, distribution of diagnoses and risk factors of cases diagnosed with CHD in the neonatal intensive care units (NICU) and neonatal services. Material and Methods: 2766 patients who were followed in NICU and neonatal services between May 2013 and May 2017 were retrospectively analyzed. 365 newborn diagnosed with CHD of 762 babies were requested pediatric cardiology consultation were included in the study. Cases diagnosed with patent foramen ovale and patent ductus arteriosus (PDA) that closed in first 3 days were excluded from study. Results: The frequency of CHD in our center was 13.2%. Most of the cases were term births, 60.5% of them were male and 30.9% were female.The most common reasons for hospitalization were respiratory diseases (28.3%). There was kinship between the parents of 19.9%.The most common reasons for cardiology consultation were murmur (27.4%), respiratory distress (15.9%) and prematurity (10.1%). Ninety six point two percent of the patients had acyanotic CHD, and 3.8% had cyanotic CHD. The most common acyanotic CHD, in order of frequency, were atrial septal defect (ASD) (40.8%), pulmonary stenosis (PS) (15.3%), PDA (13.4%), ventricular septal defect (VSD) (9.3%). The most common cyanotic CHD, in order of frequency, were hypoplastic left heart syndrome (1.1%), pulmonary atresia (0.8%) and double outlet right ventricle(0.8%). Seven point one percent of the patients had a genetic syndrome accompanying CHD, and Down syndrome was in the first place with 38.5%. Major extracardiac anomaly was found in 10.1% of the patients. While 9.3% were followed up as diabetic mothers’ babies, 20.6% of them had septal hypertrophy. One-time pulse oximetry measurements were made in our study. In 72.7% of the cyanotic CHD group SatO2 was less than 90%, whereas in 76.3% of the acyanotic CHH group, SatO2 was 95% and above, and it was found to be significantly different (p <0.05). It was observed that the hypoxemia accompanying acyanotic CHD was mostly due to respiratory diseases (66.7%). While 21 patient (5.8%) were referred to other centers for further examination and treatment, 25 patient (6.8%) were mostly lost due to sepsis. Conclusion: Echocardiography seems to be an important diagnostic tool in newborns hospitalized in the NICU. Early detection of CHD will be beneficial in applying interventional procedures early and in reducing mortality and morbidity.

Background: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. Methods: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. Results: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (& thorn;). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). Conclusions: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.

Rabdomyosarkom çocukluk yaş grubunda en sık görülen yumuşak doku sarkomu olmakla birlikte, yenidoğan döneminde oldukça nadir rastlanan bir tümördür. Çocukluk çağındaki tüm malign solid tümörlerin %5-8'ini oluşturur. Nöroblastom ve Wilms tümöründen sonra çocukluk çağının üçüncü en yaygın ekstrakraniyal solid tümörü ve en yaygın yumuşak doku sarkomudur. Tüm rabdomyosarkomların ancak %1-2 kadarı yenidoğan döneminde görülür. Genellikle vücudun herhangi bir yerinde büyüyen bir kitle olarak bulgu verir. En sık yerleşim bölgeleri baş-boyun ve genito-üriner sistem olmak üzere retroperiton, pelvis ve batın gibi visseral organların komşuluğu ve ekstremitelerdir. Burada vajinal kitle ile doğan ve botroid varyant rabdomyosarkom tanısı alan bir yenidoğan sunularak literatüre katkıda bulunulmak istenmiştir.

Multidrug resistance among bacteria increases the need for new therapeutic options. Tigecycline is one candidate drug, due to property of a wider anti-bacterial spectrum to multi-drug resistant (MDR) pathogens. However, it has still not been approved for use in pediatric patients. In this study the effectiveness and safety of tigecycline in children was assessed retrospectively. A total of 36 pediatric patients, received tigecycline therapy with a median of 13 days (2–32 days). Tigecycline was used as a combination therapy in all cases. Microbiological eradication was achieved in 27 patients (75%) and clinical response was observed in 30 patients (83%). There were six cases (17%) of relapse. Our findings suggest that tigecycline may be an option for children with severe infections due to multidrug resistant bacteria. La multirresistencia por parte de las bacterias aumenta la necesidad de nuevas opciones de tratamiento. La tigeciclina es un fármaco candidato, debido a la propiedad de presentar un espectro antibacteriano más amplio frente a patógenos multirresistentes. Sin embargo, todavía no se ha aprobado para su uso en pacientes pediátricos. En este estudio se evaluó de forma retrospectiva la eficacia y la seguridad de la tigeciclina en niños. Un total de 36 pacientes pediátricos recibieron tratamiento con tigeciclina durante una mediana de 13 días (2-32 días). La tigeciclina se utilizó como parte de un tratamiento combinado en todos los casos. Se consiguió la erradicación microbiológica en 27 pacientes (75%) y se observó respuesta clínica en 30 pacientes (83%). Hubo 6 casos (17%) de recidiva. Nuestros hallazgos sugieren que la tigeciclina puede ser una opción para niños con infecciones graves debidas a bacterias multirresistentes.

Background: In recent years, detection of viruses by multiplex real time polymerase chain reaction allowed the isolation of causative viral agents. Objectives: The primary objectives of this study were to determine the distribution of causative respiratory viruses in acute lower respiratory tract infections in the NICU and to compare the demographic and clinical characteristics of infants with RSV and non-RSV infections. The secondary aim was to determine risk factors requiring respiratory support. Methods: This retrospective observational study was conducted between January 2016 and June 2019. The infants were divided into two groups as RSV and non-RSV, and compared. Risk factors for respiratory support by means of invasive/non-invasive ventilation were determined. Results: Two hundred forty-three infants were hospitalized with the diagnosis of viral lower respiratory tract infections and a total of 119 infants, in which a causative viral agent could be isolated, were included in the study. RSV was the most common isolated virus (n=93, 78%). The demographic characteristics of infants in RSV and non-RSV groups were similar, except postnatal age. Infants were hospitalized most frequently in between December and February. In multivariate analysis, apnea and RSV were found to be risk factors for respiratory support requirement. Conclusion: Since RSV-associated acute lower respiratory tract infections are the most common and require more respiratory support in the neonatal period, risk factors should be identified and preventive measures should be developed. Preventive strategies, raising awareness of families, careful and meticulous attitudes especially during high season might reduce the incidence and hospitalizations of the infants.

We present a newborn diagnosed with Beckwith-Wiedemann syndrome and hypoglycemia, and developed pulmonary hypertension due to initiated diazoxide treatment because of these indications. Beckwith-Wiedemann syndrome was considered due to abdominal wall defect, macrosomia, macroglossia and hypoglycemia in a 34 week newborn with respiratory distress, hypoglycemia and syndromic appearance. Blood glucose level was measured as 1 mg/dL. Oral feeding, glucose infusion, prednisolone and then diazoxide treatment were started. At the first admission transthoracic echocardiographic examination, ventricular and atrial septal defects were detected. Control echocardiography performed under diazoxide treatment, showed development of enlarged right heart chambers, severe tricuspid regurgitation, and pulmonary hypertension. The development of pulmonary hypertension was thought to be related to diazoxide treatment. Diazoxide was discontinued after the patient became normoglycemic during follow--up period. Subsequently performed echocardiography revealed that the systolic pulmonary artery pressure regressed to 20 mmHg, and cardiac chambers returned to their physiologic balance. The patient without any problem during monitorization was discharged with the recommendation to attend further controls visits. In this case report, it was aimed to be reminded that pulmonary hypertension can develop due to diazoxide treatment, and it can regress with discontinuation of diazoxide. Besides, transthoracic ECHO should be performed to check for the development of pulmonary hypertension in newborns treated with diazoxide.

Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untreated. We report a patient with the neonatal form of biotin-thiamine-responsive basal ganglia disease who presented with encephalopathy and lactic acidosis in the neonatal period together with the diagnostic magnetic resonance imaging (MRI) clues. MRI in the neonatal period revealed bilateral involvement of the putamen, thalamus, and perirolandic cortical regions. However, MRI obtained at 32 months revealed involvement of the caudate nuclei in addition to the putamen and thalami. The neuroimaging findings of our patient and relevant literature indicate that patients with biotin-thiamine-responsive basal ganglia disease who are symptomatic in the neonatal period have putamen, thalami, and perirolandic cortical involvement. However, these patients do not have caudate involvement, unlike the patients who present in childhood.

Objective: Prolonged jaundice is defined as persisting hyperbilirubinemia after the 14th day following birth for term and after the 21st day for preterm babies. This study was carried out to evaluate the clinical and laboratory findings of infants with prolonged jaundice followed-up at our neonatal outpatient clinic and to determine its etiology. Material and Methods: A total of 100 infants with prolonged jaundice were included in this retrospective study. Prenatal, natal and postnatal characteristics of the babies were investigated. Results of laboratory tests were recorded after a detailed history and physical examination. Infants were followed-up until the total bilirubin level decreased to below 10 mg/dL. Results: The mean birth weight of the infants was 3150±415 g (2200-4100 g), mean gestational age was 38±1.4 weeks (35-41 weeks), mean total bilirubin level at the time of diagnosis was 15±2 mg/dL and mean duration of follow-up was 41±12 days (20-70 days). Term, early term, and late preterm infants made up 39%, 49%, and 12% of the infants respectively. There was no difference between these infants except their birth weights and gestational ages. All the infants were appropriate for gestational age. The male ratio was 62%, the cesarean delivery was rate 47%, and 51% of babies had been treated with phototherapy. The underlying causes of prolonged jaundice were as follows: unknown (78%), urinary tract infection (14%), deficiency of glucose-6-phosphate dehydrogenase (3%), congenital hypothyroidism (3%), and blood group incompatibility (2%). Babies previously treated with phototherapy had a higher mean total bilirubin level at the time of diagnosis than those not treated (p=0.02). Conclusion: The etiology of prolonged jaundice is still unknown in the majority of infants. The initial laboratory tests include direct-indirect bilirubin, the mother and infant’s blood group, complete blood count, thyroid functions, glucose-6-phosphate dehydrogenase, urine analysisculture, and reducing substance in the urine. Advanced investigations such as liver function tests, metabolic evaluation, TORCH and abdominal ultrasonography must be performed in the presence of direct hyperbilirubinemia and kept for later otherwise.

OBJECTIVE:The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes.METHODS:We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016.RESULTS:Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83.3%) with venous, 5 patients (16.7%) with arterial thrombosis. The most common sites that thrombi localized were major vessels (n=11) and central nervous system (n=8). Central catheter insertion (76.7%) and prematurity (46.7%) were the most common risk factors. Congenital prothrombotic risk factors included G1691A mutation in factor V Leiden (n=1), mutation in factor XIII (n=1), C677T mutation in methylenetetrahydrofolate reductase (n=6). More than 1 congenital risk factor was identified in 5 patients. The patients were treated with low-molecular weight heparin. The mortality rate was 13.3% (n=4). Two patients required amputation (left foot, left upper extremity). Unilateral renal atrophy (n=1), cerebral palsy (n=2), hemiparesis (n=1) were identified among followed 24 patients.CONCLUSIONS:Critically ill neonates are at risk for thrombosis, and devastating consequences can result. As indwelling catheters and prematurity are important, careful monitorization, early diagnosis and therapy, cautious care of central catheter might reduce the incidence and adverse outcome.

Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme-replacement therapy designated to reverse the skeletal mineralisation defects in HPP. A male newborn presented with extreme fontanel gap and respiratory distress. He was diagnosed with perinatal lethal HPP thus AA treatment was started. Serum alkaline phosphatase (ALP) levels increased as high as 12,700 U/L during treatment. Any side effect related to AA was not observed. AA may be a valuable emerging therapy for the treatment of HPP.

The Kasabach-Merritt phenomenon (KMP) is a rare clinical condition characterized by consumptive coagulopathy, thrombocytopenia, and hypofibrinogenemia. KMP frequently accompanies vascular tumors such as kaposiform hemangioendothelioma (KHE) and tufted angioma. A term female infant with diffuse petechiae, thrombocytopenia and a small lumbar mass was referred to our hospital on the 5th day with the diagnosis of KMP. Physical examination revealed generalized petechiae, hematoma on the right inguinal region, and a large ecchymosis in the lumbar region. She was diagnosed with disseminated intravascular coagulation (DIC) and supportive treatment was provided. Magnetic resonance imaging revealed a 86x54x76 mm retroperitoneal mass consistent with cavernous hemangioma pushing the aorta and right kidney anteriorly, invading the vertebra and extending to the spinal canal. Biopsy could not be obtained due to severe DIC. KHE was considered with the clinical findings of a giant vascular mass, KMP, and severe DIC. The patient was managed with pulse steroid, vincristine and actinomycin-D treatments. She was discharged at 2 months as the mass became smaller and KMP improved. If KMP and DIC develop in vascular tumors, the risk of bleeding may increase mortality and morbidity. In this malignant clinical condition, KHE should be considered and therapy should be planned accordingly. DIC and thrombocytopenia should be managed by supportive therapies.