... Yenidoğan otopsilerinin klinik önemi Halil Özdemir1, Begüm Atasay2, Ayla Günlemez2, Aylin Hep... more ... Yenidoğan otopsilerinin klinik önemi Halil Özdemir1, Begüm Atasay2, Ayla Günlemez2, Aylin Heper3, Sevim Ünal2, Saadet Arsan2 ... Sonuç: Ölüm nedeni tam olarak belirlenemeyen veya ek bilgilerin elde edilmesi gereken durum-larda otopsi gerekebilir. ...
B Be eg gü üm m A At ta as sa ay y* * ✥ A Ay yl la a G Gü ün nl le em me ez z* * ✥ S Se ev vi im ... more B Be eg gü üm m A At ta as sa ay y* * ✥ A Ay yl la a G Gü ün nl le em me ez z* * ✥ S Se ev vi im m Ü Ün na al l* * ✥ S Sa aa ad de et t A Ar rs sa an n* ** *
Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin ve izolösin... more Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin ve izolösin metabolizmasındaki genetik defektten meydana gelen metabolik bir hastalıktır. Mitokondriyal dallı zincirli-ketoasit dehidrogenaz kompleks aktivitesindeki yetersizliğe bağlı, valin, lösin, izolösin katabolizmasındaki ilk basamaklardan birinde blokaj olması nedeniyle plazma, idrar ve BOS'da dallı zincirli aminoasitlerin ketoasitleri birikir (1-3). Dallı zincirli amino asitlerin ve dallı zincirli-ketoasitlerin toksik düzeylerde birikimi ciddi metabolik asidoz, nörolojik kötüleşme ve idrarda karakteristik akçaağaç şurubu (çemen, yanmış şeker) kokusuna neden olur (4). Yenidoğanlarda 1:120,000-500,000 sıklığında görülen otozomal resesif geçişli genetik bir hastalıktır. Hastalar genellikle hayatlarının ilk haftasında metabolik kriz ile başvururlar (1). Manyetik Rezonans Görüntüleme metabolik hastalıkların çoğunda olduğu gibi, MSUD olgularında da santral sinir sistemi lezyonlarını ortaya çıkarmada ve lezyonların progresyonunu göstermede yardımcı olan radyolojik bir tetkiktir (5). Diffüzyon MR görüntüleme ise, canlı beyin dokusunu göstermede MR görüntülemeden daha kıymetli olabilir (5, 6). ÖZET Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin, izolösinin metabolizmasındaki genetik defekte bağlı bir hastalıktır. Bu hastalar genellikle akut metabolik ensefalopatik kriz ile başvururlar. Kraniyal MR görüntüleme de; serebellar beyaz cevher, pons, bulbus, serebral pedinküller, internal kapsülün posterior kolları ve talamik çekirdeklerde yaygın, yoğun ödem bulunmaktadır. Bu görüntü terminolojide MSUD ödemi olarak geçmektedir. Yine difüzyon MR görüntülerinde aynı bölgelerde difüzyon kısıtlılığı saptanmaktadır. Biz bu olguda; metabolik hastalık ön tanısıyla yatırılan ve 18. gününde ilk olarak MR ve difüzyon MR görüntüleriyle MSUD tanısı üzerinde yoğunlaşılan bir yenidoğan hastayı sunduk. Sonuç olarak; letarjik bir yenidoğanda metabolik tetkikleri tamamlanana kadar karekteristik MR ve difüzyon MR görüntüleri ile MSUD hastalığı tanısı düşünebileceğimizi vurgulamak istedik.
Journal of Pediatric Endocrinology and Metabolism, 2004
TPIT is a highly cell-restricted transcription factor that is required for the expression of the ... more TPIT is a highly cell-restricted transcription factor that is required for the expression of the propiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary ACTH. We present a neonate with the diagnosis of congenital early onset isolated ACTH deficiency (IAD) associated with a loss of POMC function as a result of a missense mutation in the TPIT gene. A 5 day-old male infant was admitted for hypoglycemia, limpness and conjugated hyperbilirubinemia. Laboratory investigations indicated low plasma cortisol concentration (0.1 microg/dl) accompanying a very low ACTH (<5 pg/ml) concentration. An increase in plasma cortisol concentration following stimulation with low dose exogenous ACTH was observed. On replacement therapy with hydrocortisone (15 mg/m2/day orally), cholestatic jaundice and hypoglycemia resolved and subsequent normal growth (weight, height and head circumference, 25th, 10th and 50th percentile, respectively) and development was achieved without recurrence of hypoglycemic episodes.
... Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat G... more ... Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 2005;37: 520-525. Tayman C, Yılmaz A, Tonbul A, Polat E, Kunak B. Fraser sendromu. Yeni Tıp Dergisi 2006;23: 163-166. ...
Objective. Infants with respiratory failure may require prolonged intubation. There is no consens... more Objective. Infants with respiratory failure may require prolonged intubation. There is no consensus on the time of tracheotomy in neonates. Methods. We evaluated infants applied tracheotomy, time of procedure, and early complications in our neonatal intensive care unit (NICU) retrospectively from January 2012 to December 2013. Results. We identified 9 infants applied tracheotomy with gestational ages 34 to 41 weeks. Their diagnoses were hypotonic infant, subglottic stenosis, laryngeal cleft, neck mass, and chronic lung disease. Age on tracheotomy ranged from 4 to 10 weeks. Early complication ratio was 33.3% with minimal bleeding (1), air leak (1), and canal revision requirement (1). We discharged 7 infants, and 2 infants died in the NICU. Conclusion. Tracheotomy makes infant nursing easy for staff and families even at home. If carried out by a trained team, the procedure is safe and has low complication. When to apply tracheotomy should be individualized, and airway damage due to pr...
ve diğer semptomların yanı sıra, sosyal, psikolojik ve manevi problemlerin kontrolünü içerdiğini ... more ve diğer semptomların yanı sıra, sosyal, psikolojik ve manevi problemlerin kontrolünü içerdiğini bildirmiştir. Yapılan bu tanımda yaşamını tehdit eden hastalığı olan bireyin bakımında küratif ve palyatif bakım birbirinden farklı, ayrı zamanlarda uygulanan bakım yaklaşımı olarak ele alınmıştır. Bireyin hastalığının tedavisinin olmadığına karar verildiği andan itibaren palyatif bakım verilmesi gerektiği düşünülmüştür. Takip eden yıllarda DSÖ bu tanımı yenilemiş, "Hasta ve ailesinin tedavisi olmayan sorunlarla karşılaştığında; ağrı, diğer fiziksel, psikososyal, manevi ve ruhani sorunlarının erken dönemde belirlenmesi, dikkatlice değerlendirilmesi ve tedavi edilmesiyle acı çekmelerinin önlenerek, TANIM Palyatif bakım 'yaşam sonu bakımın organizasyonu' olarak adlandırılmaktadır. Latince kökenli "Palliate (Palliare)" kelimesi koruyucu ya da kapsayıcı anlamındadır. "Palliative" İngilizce terminolojide hafifletici, yatıştırıcı, geçici çare anlamında kullanılır. Palyatif bakım ise ilerleyici ve tedavisi olmayan, ölümcül hastalıklarda, yaşam kalitesini artırmaya yönelik bakım sistemidir (1,2). Dünya Sağlık Örgütü (DSÖ) 1986'da palyatif bakımı "Tedaviye yanıt vermeyen hastalığı olan bireylerin tüm bakımı" olarak tanımlamıştır. Palyatif bakımın amacının, hasta ve ailesinin olabilecek en iyi yaşam kalitesini sağlamak olduğunu, ağrı ÖzET Palyatif bakım kısaca 'yaşam sonu bakımın organizasyonu' olarak adlandırılmakta, hasta ve ailesine yönelik fiziksel, duygusal, sosyal ve spiritüel yönleri olan aktif, bütüncül bir bakım yaklaşımını tanımlamaktadır. Dünyada pediatrik palyatif bakım 1990 sonlarında gündeme gelmiş ve çocuk hastanelerinde uygulanmaya başlamıştır. Ülkemizde ise pediatrik palyatif bakım kronik ve yaşamı sınırlayıcı ya da tehdit edici hastalığı olan çocuklar düşünülerek gündeme gelmiş, tıbbi ve teknolojik gelişmelerle yaşatılan çocuk oranlarının artmasıyla pratikte daha sık kullanılmaya başlamıştır. Son yıllarda yenidoğan mortalite hızlarındaki azalmayla birlikte palyatif bakım gereksinimi olan yenidoğanlarda da artış olmuştur. Yaşamı sınırlayıcı durumu olan yenidoğanın palyatif bakımı, tanı anından itibaren çocuğun yaşamı, ölüm anı ve sonrasındaki bakıma etkin ve kapsamlı bir yaklaşım olup çocuk ve aile odaklıdır ve ihtiyaç temellidir. Yazıda yenidoğanlarda palyatif bakım uygulamalarıyla ilgili yaklaşım ve öneriler yer almaktadır.
Diyabetik Anne Bebeklerinin Kardiyovaskuler Sistem Hastaliklari ve Izlemi Resrospective Analysis ... more Diyabetik Anne Bebeklerinin Kardiyovaskuler Sistem Hastaliklari ve Izlemi Resrospective Analysis of The Intraoperative Findings of Our Patients Operated on for Chronic Otitis Media
Our purpose was to determine mortality and morbidity rates and selected outcome variables for inf... more Our purpose was to determine mortality and morbidity rates and selected outcome variables for infants weighing less than 1500 g, who were admitted to the neonatal intensive care unit of our hospital from 1997 to 2000. The ultimate goal of the study was to define a model for developing a regional database. Information on all very low birth weight (VLBW) admissions to a tertiary level neonatal intensive care unit (NICU) in Ankara between January 1997 and December 2000 was prospectively collected by three neonatologists using a standard manual of operation and definitions. The data consisted of patient information including sociodemographic characteristics; antenatal history; mode of delivery; APGAR scores; need for resuscitation; admission illness severity (Clinical Risk Index for Babies-CRIB) and therapeutic intensity (Neonatal Therapeutic Intensity Scoring System-NTISS); selected NICU parameters and procedures such as respiratory support, surfactant therapy, and postnatal corticoste...
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polari... more 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...
Objective: In recent years, detection of viruses by multiplex real time polymerase chain reaction... more Objective: In recent years, detection of viruses by multiplex real time polymerase chain reaction allowed the isolation of causative viral agents. 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. Material and 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 detected 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.
Paediatric foreign body in the airway is usually seen in children aged 1-3 years and cause sudden... more Paediatric foreign body in the airway is usually seen in children aged 1-3 years and cause sudden respiratory distress. If the diagnosis is delayed or untreated, it may result in serious morbidity or even mortality. In new-borns, foreign body in the airways is rarely seen and it is usually formula or breast milk. We presented a premature hypotonic infant in need of mechanical ventilation transported to our unit on 49th day for tracheotomy. We identified left pulmonary atelectasis and a plastic tube fragment was removed from the left main bronchus by rigid bronchoscopy.
Journal of Clinical Research in Pediatric Endocrinology, 2016
This case has a novel homozygous p.F315I mutation in the KCNJ11 gene unresponsive to diazoxide th... more This case has a novel homozygous p.F315I mutation in the KCNJ11 gene unresponsive to diazoxide therapy but successfully treated with sirolimus before pancreatectomy. Congenital hyperinsulinism is a genetic disorder characterised by challenges associated with the diagnosis and management.
Journal of pediatric hematology/oncology, Jan 10, 2018
The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their ou... more The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. 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 m...
Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infa... more Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a crosssectional study. Materials and methods: Premature infants at <37 weeks of gestational age (GA) were assessed for atopy by skin-prick test and serum immunoglobulin E level at 2 years of age. The family's and infant's histories of allergy, BA, atopy, and wheezing were obtained by questionnaire and from hospital records. Results: There were 98 infants, with mean birth weight (BW) 1517.4 ± 486.5 g and GA 30.8 ± 2.9 weeks. The frequencies of wheezing, asthma, and bronchopulmonary dysplasia (BPD) were 32.7%, 16.3%, and 14.3%, respectively. Skin-prick tests were positive for 11 subjects, with allergy to cereals for 7 infants, egg for 3, and peanut for 1. Wheezing was related to GA, BW, respiratory distress syndrome, mechanical ventilation, sepsis, asphyxia, smoking, antenatal steroid, BA, palivizumab prophylaxis, number of people in the household, and duration of hospitalization (P < 0.05). Wheezing was negatively correlated to GA. Family history of BA, smoking, and number of people in the household were linked to BA (P < 0.05). Conclusion: Wheezing was related to degree of premature birth, but BA was linked to BA in the family and smoking. Increased gestation should improve the infant's respiratory health up to 2 years of age.
Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to pr... more Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to provide evidence-based support of this universally promoted weighing policy and to establish the most crucial days of weighing. Weight measurements of 2,359 healthy newborns and of 271 newborns with clinical hypernatremic dehydration were used within the first seven days of life to simulate various weighting policies to prevent hypernatremic dehydration; its sensitivity, specificity and positive predictive value (PPV) of these policies were calculated. Various referral criteria were also evaluated. A policy of daily weighing with a cut-off value of -2.5 Standard Deviation Score (SDS) on the growth chart for weight loss, had a 97.6% sensitivity, 97.6% specificity and a PPV of 2.80%. Weighing at birth and only at days two, four and seven with the same -2.5 SDS cut-off, resulted in 97.3% sensitivity, 98.5% specificity and a PPV of 4.43%. A weighing policy with measurements restricted to birth...
... YENİDOĞAN OLGU SERİSİ NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA M. Yek... more ... YENİDOĞAN OLGU SERİSİ NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA M. Yekta ÖNCEL1, Sevim ÜNAL1, Aslıhan YILMAZ1, Jale YILDIZ1, Ayşe ... J Craniofac Surg 2005; 16 (5): 843-7. Silva LC, Cruz RA, Abou-Id LR, Brini LN, Moreira LS. ...
... Yenidoğan otopsilerinin klinik önemi Halil Özdemir1, Begüm Atasay2, Ayla Günlemez2, Aylin Hep... more ... Yenidoğan otopsilerinin klinik önemi Halil Özdemir1, Begüm Atasay2, Ayla Günlemez2, Aylin Heper3, Sevim Ünal2, Saadet Arsan2 ... Sonuç: Ölüm nedeni tam olarak belirlenemeyen veya ek bilgilerin elde edilmesi gereken durum-larda otopsi gerekebilir. ...
B Be eg gü üm m A At ta as sa ay y* * ✥ A Ay yl la a G Gü ün nl le em me ez z* * ✥ S Se ev vi im ... more B Be eg gü üm m A At ta as sa ay y* * ✥ A Ay yl la a G Gü ün nl le em me ez z* * ✥ S Se ev vi im m Ü Ün na al l* * ✥ S Sa aa ad de et t A Ar rs sa an n* ** *
Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin ve izolösin... more Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin ve izolösin metabolizmasındaki genetik defektten meydana gelen metabolik bir hastalıktır. Mitokondriyal dallı zincirli-ketoasit dehidrogenaz kompleks aktivitesindeki yetersizliğe bağlı, valin, lösin, izolösin katabolizmasındaki ilk basamaklardan birinde blokaj olması nedeniyle plazma, idrar ve BOS'da dallı zincirli aminoasitlerin ketoasitleri birikir (1-3). Dallı zincirli amino asitlerin ve dallı zincirli-ketoasitlerin toksik düzeylerde birikimi ciddi metabolik asidoz, nörolojik kötüleşme ve idrarda karakteristik akçaağaç şurubu (çemen, yanmış şeker) kokusuna neden olur (4). Yenidoğanlarda 1:120,000-500,000 sıklığında görülen otozomal resesif geçişli genetik bir hastalıktır. Hastalar genellikle hayatlarının ilk haftasında metabolik kriz ile başvururlar (1). Manyetik Rezonans Görüntüleme metabolik hastalıkların çoğunda olduğu gibi, MSUD olgularında da santral sinir sistemi lezyonlarını ortaya çıkarmada ve lezyonların progresyonunu göstermede yardımcı olan radyolojik bir tetkiktir (5). Diffüzyon MR görüntüleme ise, canlı beyin dokusunu göstermede MR görüntülemeden daha kıymetli olabilir (5, 6). ÖZET Akçaağaç şurubu idrar hastalığı (MSUD), dallı zincirli aminoasitler olan valin, lösin, izolösinin metabolizmasındaki genetik defekte bağlı bir hastalıktır. Bu hastalar genellikle akut metabolik ensefalopatik kriz ile başvururlar. Kraniyal MR görüntüleme de; serebellar beyaz cevher, pons, bulbus, serebral pedinküller, internal kapsülün posterior kolları ve talamik çekirdeklerde yaygın, yoğun ödem bulunmaktadır. Bu görüntü terminolojide MSUD ödemi olarak geçmektedir. Yine difüzyon MR görüntülerinde aynı bölgelerde difüzyon kısıtlılığı saptanmaktadır. Biz bu olguda; metabolik hastalık ön tanısıyla yatırılan ve 18. gününde ilk olarak MR ve difüzyon MR görüntüleriyle MSUD tanısı üzerinde yoğunlaşılan bir yenidoğan hastayı sunduk. Sonuç olarak; letarjik bir yenidoğanda metabolik tetkikleri tamamlanana kadar karekteristik MR ve difüzyon MR görüntüleri ile MSUD hastalığı tanısı düşünebileceğimizi vurgulamak istedik.
Journal of Pediatric Endocrinology and Metabolism, 2004
TPIT is a highly cell-restricted transcription factor that is required for the expression of the ... more TPIT is a highly cell-restricted transcription factor that is required for the expression of the propiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary ACTH. We present a neonate with the diagnosis of congenital early onset isolated ACTH deficiency (IAD) associated with a loss of POMC function as a result of a missense mutation in the TPIT gene. A 5 day-old male infant was admitted for hypoglycemia, limpness and conjugated hyperbilirubinemia. Laboratory investigations indicated low plasma cortisol concentration (0.1 microg/dl) accompanying a very low ACTH (&lt;5 pg/ml) concentration. An increase in plasma cortisol concentration following stimulation with low dose exogenous ACTH was observed. On replacement therapy with hydrocortisone (15 mg/m2/day orally), cholestatic jaundice and hypoglycemia resolved and subsequent normal growth (weight, height and head circumference, 25th, 10th and 50th percentile, respectively) and development was achieved without recurrence of hypoglycemic episodes.
... Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat G... more ... Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 2005;37: 520-525. Tayman C, Yılmaz A, Tonbul A, Polat E, Kunak B. Fraser sendromu. Yeni Tıp Dergisi 2006;23: 163-166. ...
Objective. Infants with respiratory failure may require prolonged intubation. There is no consens... more Objective. Infants with respiratory failure may require prolonged intubation. There is no consensus on the time of tracheotomy in neonates. Methods. We evaluated infants applied tracheotomy, time of procedure, and early complications in our neonatal intensive care unit (NICU) retrospectively from January 2012 to December 2013. Results. We identified 9 infants applied tracheotomy with gestational ages 34 to 41 weeks. Their diagnoses were hypotonic infant, subglottic stenosis, laryngeal cleft, neck mass, and chronic lung disease. Age on tracheotomy ranged from 4 to 10 weeks. Early complication ratio was 33.3% with minimal bleeding (1), air leak (1), and canal revision requirement (1). We discharged 7 infants, and 2 infants died in the NICU. Conclusion. Tracheotomy makes infant nursing easy for staff and families even at home. If carried out by a trained team, the procedure is safe and has low complication. When to apply tracheotomy should be individualized, and airway damage due to pr...
ve diğer semptomların yanı sıra, sosyal, psikolojik ve manevi problemlerin kontrolünü içerdiğini ... more ve diğer semptomların yanı sıra, sosyal, psikolojik ve manevi problemlerin kontrolünü içerdiğini bildirmiştir. Yapılan bu tanımda yaşamını tehdit eden hastalığı olan bireyin bakımında küratif ve palyatif bakım birbirinden farklı, ayrı zamanlarda uygulanan bakım yaklaşımı olarak ele alınmıştır. Bireyin hastalığının tedavisinin olmadığına karar verildiği andan itibaren palyatif bakım verilmesi gerektiği düşünülmüştür. Takip eden yıllarda DSÖ bu tanımı yenilemiş, "Hasta ve ailesinin tedavisi olmayan sorunlarla karşılaştığında; ağrı, diğer fiziksel, psikososyal, manevi ve ruhani sorunlarının erken dönemde belirlenmesi, dikkatlice değerlendirilmesi ve tedavi edilmesiyle acı çekmelerinin önlenerek, TANIM Palyatif bakım 'yaşam sonu bakımın organizasyonu' olarak adlandırılmaktadır. Latince kökenli "Palliate (Palliare)" kelimesi koruyucu ya da kapsayıcı anlamındadır. "Palliative" İngilizce terminolojide hafifletici, yatıştırıcı, geçici çare anlamında kullanılır. Palyatif bakım ise ilerleyici ve tedavisi olmayan, ölümcül hastalıklarda, yaşam kalitesini artırmaya yönelik bakım sistemidir (1,2). Dünya Sağlık Örgütü (DSÖ) 1986'da palyatif bakımı "Tedaviye yanıt vermeyen hastalığı olan bireylerin tüm bakımı" olarak tanımlamıştır. Palyatif bakımın amacının, hasta ve ailesinin olabilecek en iyi yaşam kalitesini sağlamak olduğunu, ağrı ÖzET Palyatif bakım kısaca 'yaşam sonu bakımın organizasyonu' olarak adlandırılmakta, hasta ve ailesine yönelik fiziksel, duygusal, sosyal ve spiritüel yönleri olan aktif, bütüncül bir bakım yaklaşımını tanımlamaktadır. Dünyada pediatrik palyatif bakım 1990 sonlarında gündeme gelmiş ve çocuk hastanelerinde uygulanmaya başlamıştır. Ülkemizde ise pediatrik palyatif bakım kronik ve yaşamı sınırlayıcı ya da tehdit edici hastalığı olan çocuklar düşünülerek gündeme gelmiş, tıbbi ve teknolojik gelişmelerle yaşatılan çocuk oranlarının artmasıyla pratikte daha sık kullanılmaya başlamıştır. Son yıllarda yenidoğan mortalite hızlarındaki azalmayla birlikte palyatif bakım gereksinimi olan yenidoğanlarda da artış olmuştur. Yaşamı sınırlayıcı durumu olan yenidoğanın palyatif bakımı, tanı anından itibaren çocuğun yaşamı, ölüm anı ve sonrasındaki bakıma etkin ve kapsamlı bir yaklaşım olup çocuk ve aile odaklıdır ve ihtiyaç temellidir. Yazıda yenidoğanlarda palyatif bakım uygulamalarıyla ilgili yaklaşım ve öneriler yer almaktadır.
Diyabetik Anne Bebeklerinin Kardiyovaskuler Sistem Hastaliklari ve Izlemi Resrospective Analysis ... more Diyabetik Anne Bebeklerinin Kardiyovaskuler Sistem Hastaliklari ve Izlemi Resrospective Analysis of The Intraoperative Findings of Our Patients Operated on for Chronic Otitis Media
Our purpose was to determine mortality and morbidity rates and selected outcome variables for inf... more Our purpose was to determine mortality and morbidity rates and selected outcome variables for infants weighing less than 1500 g, who were admitted to the neonatal intensive care unit of our hospital from 1997 to 2000. The ultimate goal of the study was to define a model for developing a regional database. Information on all very low birth weight (VLBW) admissions to a tertiary level neonatal intensive care unit (NICU) in Ankara between January 1997 and December 2000 was prospectively collected by three neonatologists using a standard manual of operation and definitions. The data consisted of patient information including sociodemographic characteristics; antenatal history; mode of delivery; APGAR scores; need for resuscitation; admission illness severity (Clinical Risk Index for Babies-CRIB) and therapeutic intensity (Neonatal Therapeutic Intensity Scoring System-NTISS); selected NICU parameters and procedures such as respiratory support, surfactant therapy, and postnatal corticoste...
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polari... more 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...
Objective: In recent years, detection of viruses by multiplex real time polymerase chain reaction... more Objective: In recent years, detection of viruses by multiplex real time polymerase chain reaction allowed the isolation of causative viral agents. 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. Material and 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 detected 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.
Paediatric foreign body in the airway is usually seen in children aged 1-3 years and cause sudden... more Paediatric foreign body in the airway is usually seen in children aged 1-3 years and cause sudden respiratory distress. If the diagnosis is delayed or untreated, it may result in serious morbidity or even mortality. In new-borns, foreign body in the airways is rarely seen and it is usually formula or breast milk. We presented a premature hypotonic infant in need of mechanical ventilation transported to our unit on 49th day for tracheotomy. We identified left pulmonary atelectasis and a plastic tube fragment was removed from the left main bronchus by rigid bronchoscopy.
Journal of Clinical Research in Pediatric Endocrinology, 2016
This case has a novel homozygous p.F315I mutation in the KCNJ11 gene unresponsive to diazoxide th... more This case has a novel homozygous p.F315I mutation in the KCNJ11 gene unresponsive to diazoxide therapy but successfully treated with sirolimus before pancreatectomy. Congenital hyperinsulinism is a genetic disorder characterised by challenges associated with the diagnosis and management.
Journal of pediatric hematology/oncology, Jan 10, 2018
The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their ou... more The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. 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 m...
Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infa... more Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a crosssectional study. Materials and methods: Premature infants at <37 weeks of gestational age (GA) were assessed for atopy by skin-prick test and serum immunoglobulin E level at 2 years of age. The family's and infant's histories of allergy, BA, atopy, and wheezing were obtained by questionnaire and from hospital records. Results: There were 98 infants, with mean birth weight (BW) 1517.4 ± 486.5 g and GA 30.8 ± 2.9 weeks. The frequencies of wheezing, asthma, and bronchopulmonary dysplasia (BPD) were 32.7%, 16.3%, and 14.3%, respectively. Skin-prick tests were positive for 11 subjects, with allergy to cereals for 7 infants, egg for 3, and peanut for 1. Wheezing was related to GA, BW, respiratory distress syndrome, mechanical ventilation, sepsis, asphyxia, smoking, antenatal steroid, BA, palivizumab prophylaxis, number of people in the household, and duration of hospitalization (P < 0.05). Wheezing was negatively correlated to GA. Family history of BA, smoking, and number of people in the household were linked to BA (P < 0.05). Conclusion: Wheezing was related to degree of premature birth, but BA was linked to BA in the family and smoking. Increased gestation should improve the infant's respiratory health up to 2 years of age.
Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to pr... more Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to provide evidence-based support of this universally promoted weighing policy and to establish the most crucial days of weighing. Weight measurements of 2,359 healthy newborns and of 271 newborns with clinical hypernatremic dehydration were used within the first seven days of life to simulate various weighting policies to prevent hypernatremic dehydration; its sensitivity, specificity and positive predictive value (PPV) of these policies were calculated. Various referral criteria were also evaluated. A policy of daily weighing with a cut-off value of -2.5 Standard Deviation Score (SDS) on the growth chart for weight loss, had a 97.6% sensitivity, 97.6% specificity and a PPV of 2.80%. Weighing at birth and only at days two, four and seven with the same -2.5 SDS cut-off, resulted in 97.3% sensitivity, 98.5% specificity and a PPV of 4.43%. A weighing policy with measurements restricted to birth...
... YENİDOĞAN OLGU SERİSİ NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA M. Yek... more ... YENİDOĞAN OLGU SERİSİ NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA M. Yekta ÖNCEL1, Sevim ÜNAL1, Aslıhan YILMAZ1, Jale YILDIZ1, Ayşe ... J Craniofac Surg 2005; 16 (5): 843-7. Silva LC, Cruz RA, Abou-Id LR, Brini LN, Moreira LS. ...
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