European Journal of Paediatric Neurology, May 1, 2015
variable even within the family members with similar genotype. It is very important to check seru... more variable even within the family members with similar genotype. It is very important to check serum potassium level in a child presenting with muscle stiffness/weakness symptoms as it can be treated quickly with potassium supplement. Daily attention to restriction of vigorous exercises, reserved intake of carbohydrate and avoidance of exposure to coldness is helpful.
Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelli... more Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelliklerinin, etiyolojilerinin, klinik ve laboratuvar verileri eşliğinde değerlendirilmesi amaçlandı. Gereç ve Yöntemler: Tek merkezli, retrospektif, 2016-2020 yıllarını kapsayan kohort çalışmaya direkt bilirubin değeri >2 mg/dl ya da total bilirubin seviyesi >5 mg/dl iken direkt bilirubin değerinin total bilirubinin >%20 olan yenidoğanlar alındı. Hastaların perinatal özellikleri, başvuru şikayetleri, klinik, laboratuvar verileri kaydedildi. Kolestaz nedenleri metabolik-genetik, sendromik, bilier, nutrisyonel, kardiyovasküler, enfeksiyon, endokrin ve sebebi açıklanamayan nedenler olarak gruplandırıldı. İstatistiksel değerlendirme üç temel grupta (metabolik-genetik, parenteral-nutrisyonilişkili, diğerleri) yapıldı. Bulgular: Neonatal kolestaz sıklığı 8,5/1000 yenidoğan olarak saptandı. En sık nedenleri parenteral nutrisyon (%36,4) ile metabolik-genetik hastalıklar (%32,7) oluşturdu. Çalışmaya alınan hastaların %76,4'ünü preterm-yenidoğanlar oluştururken, parenteral-nutrisyon grubundaki pretermler, gestasyon yaşı açısından en düşük hafta, doğum kilosu açısından ise en düşük doğum ağırlığına sahipti (üç grup arasında sırasıyla p<0,001, p<0,001). Kolestazın en geç ortaya çıktığı ve tanı süresinin 23,5 gün olduğu parenteral-nutrisyon grubunda, tüm olguların preterm yenidoğanlardan oluştuğu (doğum ağırlığı=1229 gram) saptandı. Tanı anında en yüksek direkt bilirubin değerlerine metabolik-genetik hastalıklarda, en düşük değerlere parenteral-nutrisyon grubunda rastlandı (p=0,030). Tanı anında 5,6 mg/dl altındaki direkt bilirubin değerlerinin %95 duyarlılık (AUC:0,683, duyarlılık:%95, özgüllük:%42,9) ile nutrisyonel kolestazı ön göreceği saptandı. Nutrisyonel kolestazda gamaglutamil transferazın ilk tanı anında diğer gruplara göre belirgin yüksek (p=0,010) olduğu; metabolik-genetik hastalıklarda transaminazların (AST, ALT) nutrisyonel kolestaza göre yüksek seyrettiği (p=0,043, p=0,013), protrombin süresindeki değişikliklerin erken tanı döneminde (p=0,001), hipoalbumineminin ise takip eden süreçte ortaya çıktığı anlaşıldı (p=0,013). Sonuç: Neonatal kolestazın erken dönemde tanınması ile medikal/cerrahi olarak tedavisi mümkün hastalıklarda kür sağlanabilecek, komplikasyonlar azaltılarak hastaların yaşam kalitesi artırılabilecektir.
Tetanus, a vaccine-preventable disease threatens life. Tetanus has four clinical presentations: n... more Tetanus, a vaccine-preventable disease threatens life. Tetanus has four clinical presentations: neonatal, localized, cephalic, and generalized. Generalized tetanus was the most common presenting feature on admission to the hospital. We report a case with generalized tetanus with difficulty swallowing and sore throat by admission. She was eight years old. She had symptoms on the fifth day of nail soak. She rapidly developed an opisthotonic posture on the first day of admission. She was discharged on foot on the seventieth day. Generalized tetanus should be kept in mind that a patient may be admitted to a hospital with difficulty swallowing and a sore throat.
Pediatric Allergy Immunology and Pulmonology, Mar 1, 2022
Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enh... more Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation. Case: A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. Conclusion: SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in ch... more Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, affecting the joints and lasting at least 6 weeks, with the age of disease onset under 16 years. The classification of the childhood chronic arthritis hasn't been solved. Objectives We aimed that analysing the demographics, clinical and laboratory features, disease status, and subtype distributions of JIA according to the International League of Associations for Rheumatology (ILAR) criteria in Turkey. Methods Between March 2010 and February 2014 with this cross-sectional study, consecutive patients seen with JIA in selected 5 major centres. All patients were classified according to the ILAR criteria. Related to the disease status assessment we evaluate acute phase reactants, physician-patient-parent global assessment of overall disease activity (PGA)(21circle VAS), pain scale (10cm VAS), disease status, and Juvenile Arthritis Damage Index (JADI). We checked the correlations between physician-patient-parent global assessment (PGA) of overall disease activity, and disease status scores. Results In this study, 208 (58.1%) females and 150 (41.9%) males were evaluated (Female/Male:1.39). The mean age of patients was 11.15±4.47 years. The distributions of JIA patients according to onset of disease were as follows: systemic 50 (13.9%), oligoarticular extended 35 (9.4%), oligoarticular persistent 104 (29%), rheumatoid factor (RF) positive polyarthritis 5 (1.2%), RF negative polyarthritis 89 (24.9%), enthesitis-related 51 (13.8%), psoriatic 15 (3.8%), unclassified group 9 (2.6%). The frequency of uveitis was 21 (15.1%) among all of the oligoarticular patients and 12 (5.5%) among in the other group. ANA was positive mainly among the oligoarticular onset patients. 16 patients also had FMF. Among systemic JIA patients, the frequency of macrophage activation syndrome was 24% (n=12). Related to the disease status of the subtypes of JIA revealed that while the RF positive polyarthritis was found to have the highest, and the unclassified group has the lowest activity score via using Articular JADI. The RF (-) polyarthritis was found to has the highest, and the unclassified group has the lowest activity score according to the Extra-articular JADI. Based on the last week's parent-patient-pain score, while the unclassified group has the highest, the psoriatic arthritis has the lowest activity score. Assessment of the disease status by the PGA was resulted the fact that there was statistically significant positive correlation between parent-patient (r=0.770), moderate positive correlation between physician-parent (r=0.456) and physician-patient (r=0.512). There was also statistically positive correlation between the patient and parent pain score (r=0.857). Conclusions We assessed the main clinical and laboratory features, and the disease activity status of the Turkish patients with childhood chronic arthritis. We evaluated the diagnoses and the subtype distributions according to ILAR classification. Disclosure of Interest None declared
Necrotizing enterocolitis (NEC) is one of the most common gastrointestinal (GI) emergencies affli... more Necrotizing enterocolitis (NEC) is one of the most common gastrointestinal (GI) emergencies afflicting predominantly premature infants in neonatal intensive care units (NICU) [1]. The disease is often observed in premature infants with low birth-weight and gestational age. Low APGAR scores, chorioamnionitis, exchange transfusion, prolonged rupture of membranes, congenital heart disease, and neural tube defects are among other predisposing factors [2]. Its incidence varies between 5% and 10% among infants born at less than 32 weeks of gestation and with a birth weight of less than 1500 g [3]. The mortality of NEC ranges from 10% to 50% and survivors suffer from significant morbidity, such as long-term requirement 24 for parenteral nutrition, malabsorption and malnutrition related to 25 short bowel syndrome, and neurodevelopmental, neurosensory, and 26 functional disabilities [4]. Despite prematurity, enteral feeding, 27 intestinal hypoxia-ischemia, and bacterial colonization have been 28 hypothesized to cause NEC. Besides being difficult to treat, there is no 29 effective preventative strategy of NEC [5]. 30 The diagnosis of NEC is based on modified Bell criteria proposed 31 by Walsh and Kleigman, who developed the criteria with systemic, 32 abdominal and radiologic findings to more clearly classify NEC 33 [6]. There is no diagnostic laboratory findings, but only supportive 34 in diagnosis of NEC [7]. The presenting signs are nonspecific, such 35 as feeding intolerance, abdominal distention or tenderness, occult 36 or gross blood in the stool, lethargy, apnea, respiratory distress, or 37 poor perfusion that resembles diseases like sepsis and respiratory 38 distress syndrome [8]. Thus, detecting infants at risk for NEC or 39 those in early stages of the disease would offer opportunities for 40 early intervention. 41 The fecal proteins calprotectin (FCAL) and lactoferrin (FLF), 42 which are derived from neutrophils, have the potential to be ideal Advances in Medical Sciences xxx (2015) xxx-xxx
Aim: Endocrine diseases can affect patients with sleep disorders. Different mechanisms are implie... more Aim: Endocrine diseases can affect patients with sleep disorders. Different mechanisms are implied in sleep disorders in different endocrine diseases. Long-term sleep disorders are hypothesized to have an autoimmune etiology. We sought to determine the sleep patterns and disorders in adolescents with Hashimoto's thyroiditis. Material-methods: Reliability and validity confirmed Pediatric Sleep Questionnaire was conducted 30 adolescent with Hashimoto's thyroiditis and age matched 48 healthy children. Results: Patients with Hashimoto's thyroiditis have been suffering from the disease approximately for 4.5±3.5 years, fT4 and TSH average was 1.29±0.12 ng/dL and 2.36±1.47 µIU/mL, respectively. Although scores of snoring, breathing and behavior were similar, score of sleep quality and intra-day activity was significantly different (p=0.04). Conclusion: Sleep has a vital role for healthy life and good school performance. Hashimoto's thyroiditis can affect sleep quality. Sleep related problems should be investigated in chronic conditions like Hashimoto's thyroiditis.
Aim: Chronic diseases are associated with sleep disorders. Sleep and related problems usually esc... more Aim: Chronic diseases are associated with sleep disorders. Sleep and related problems usually escape from attention of both physicians and families. It is aimed to investigate the sleep quality in adolescents with type 1 diabetes mellitus. Material-methods: Reliability and validity confirmed Pediatric Sleep Questionnaire was conducted 30 adolescent with type 1 diabetes and age matched 55 healthy teenagers. Results: Mean diabetes duration of patients was 4.5±3.5 years. Recent three HbA1C average was 7.66%±0.77 (min:5.9-max:9.4). Although scores of snoring, breathing and behavior were similar score of sleep quality and intra-day activity was significantly different (p=0.012). Conclusion: Sleep is very important for healthy life, and good school performance. It should be kept in mind that chronic diseases like T1DM affect sleep quality. Sleep related problems usually missed by parents and physicians must be exposed and looked for solution if possible.
Objective.Our aims were to validate the pediatric diagnostic criteria in a large international re... more Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity...
Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in ch... more Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, affecting the joints and lasting at least 6 weeks, with the age of disease onset under 16 years. The classification of the childhood chronic arthritis hasn't been solved. Objectives We aimed that analysing the demographics, clinical and laboratory features, disease status, and subtype distributions of JIA according to the International League of Associations for Rheumatology (ILAR) criteria in Turkey. Methods Between March 2010 and February 2014 with this cross-sectional study, consecutive patients seen with JIA in selected 5 major centres. All patients were classified according to the ILAR criteria. Related to the disease status assessment we evaluate acute phase reactants, physician-patient-parent global assessment of overall disease activity (PGA)(21circle VAS), pain scale (10cm VAS), disease status, and Juvenile Arthritis Damage Index (JADI). We checked the correlations between physician-patient-parent global assessment (PGA) of overall disease activity, and disease status scores. Results In this study, 208 (58.1%) females and 150 (41.9%) males were evaluated (Female/Male:1.39). The mean age of patients was 11.15±4.47 years. The distributions of JIA patients according to onset of disease were as follows: systemic 50 (13.9%), oligoarticular extended 35 (9.4%), oligoarticular persistent 104 (29%), rheumatoid factor (RF) positive polyarthritis 5 (1.2%), RF negative polyarthritis 89 (24.9%), enthesitis-related 51 (13.8%), psoriatic 15 (3.8%), unclassified group 9 (2.6%). The frequency of uveitis was 21 (15.1%) among all of the oligoarticular patients and 12 (5.5%) among in the other group. ANA was positive mainly among the oligoarticular onset patients. 16 patients also had FMF. Among systemic JIA patients, the frequency of macrophage activation syndrome was 24% (n=12). Related to the disease status of the subtypes of JIA revealed that while the RF positive polyarthritis was found to have the highest, and the unclassified group has the lowest activity score via using Articular JADI. The RF (-) polyarthritis was found to has the highest, and the unclassified group has the lowest activity score according to the Extra-articular JADI. Based on the last week's parent-patient-pain score, while the unclassified group has the highest, the psoriatic arthritis has the lowest activity score. Assessment of the disease status by the PGA was resulted the fact that there was statistically significant positive correlation between parent-patient (r=0.770), moderate positive correlation between physician-parent (r=0.456) and physician-patient (r=0.512). There was also statistically positive correlation between the patient and parent pain score (r=0.857). Conclusions We assessed the main clinical and laboratory features, and the disease activity status of the Turkish patients with childhood chronic arthritis. We evaluated the diagnoses and the subtype distributions according to ILAR classification. Disclosure of Interest None declared
International Journal of Clinical Rheumatology, 2013
Recent advances in the management of children with familial Mediterranean fever Familial Mediterr... more Recent advances in the management of children with familial Mediterranean fever Familial Mediterranean fever (FMF) is the most frequent hereditary autoinflammatory disease characterized by self-limited episodes of fever and serositis. FMF is more prevalent among non-Askhenazi Jewish, Turkish, Arabic and Armenian populations. FMF is inherited with an autosomal recessive pattern and is caused by mutations in the MEFV gene located on chromosome 16p13.3, encoding pyrin. AA type amyloidosis and the associated renal impairment are the most severe long-term complications. The diagnosis is established on the grounds of clinical findings. There have been a number of diagnostic criteria in the literature: the Tel Hashomer and Livneh criteria were first developed for the diagnosis of adult FMF patients. A new set of diagnostic criteria was recently proposed by Yalcinkaya et al. Colchicine is the best treatment option for the time being and some new agents have been tried in cases where there is colchicine resistance. KEYWORDS: autoinflammatory disease n colchicine n familial Mediterranean fever n MEFV gene n pyrin/marenostrin
Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare, multifocal venous malformation. It... more Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare, multifocal venous malformation. It most commonly affects the skin and the subcutaneous tissues or the viscera, especially the gastrointestinal tract, and less often the central nervous system. Diagnosis is based on clinical, radiological, and histopathological features. There is currently no medically curative treatment; however, sirolimus, an oral immunosuppressant drug, has recently been used effectively in patients with BRBNS. Case Report: Presently described is a case of neonatal BRBNS. The infant was born with diffuse skin and visceral organ involvement. In addition to supportive therapy, such as blood product transfusions, and excisions of the lesions, propranolol, corticosteroid and sirolimus treatment was administered, but without response. Conclusion: The patient died as a result of massive bleeding in the endotracheal tube, possibly due to lesions located in the lungs. To the best of our knowledge, this has not previously been reported in the literature.
Pediatric Allergy, Immunology, and Pulmonology, 2022
Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enh... more Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation. Case: A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. Conclusion: SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelli... more Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelliklerinin, etiyolojilerinin, klinik ve laboratuvar verileri eşliğinde değerlendirilmesi amaçlandı. Gereç ve Yöntemler: Tek merkezli, retrospektif, 2016-2020 yıllarını kapsayan kohort çalışmaya direkt bilirubin değeri >2 mg/dl ya da total bilirubin seviyesi >5 mg/dl iken direkt bilirubin değerinin total bilirubinin >%20 olan yenidoğanlar alındı. Hastaların perinatal özellikleri, başvuru şikayetleri, klinik, laboratuvar verileri kaydedildi. Kolestaz nedenleri metabolik-genetik, sendromik, bilier, nutrisyonel, kardiyovasküler, enfeksiyon, endokrin ve sebebi açıklanamayan nedenler olarak gruplandırıldı. İstatistiksel değerlendirme üç temel grupta (metabolik-genetik, parenteral-nutrisyonilişkili, diğerleri) yapıldı. Bulgular: Neonatal kolestaz sıklığı 8,5/1000 yenidoğan olarak saptandı. En sık nedenleri parenteral nutrisyon (%36,4) ile metabolik-genetik hastalıklar (%32,7) oluşturdu. Çalışmaya alınan hastaların %76,4'ünü preterm-yenidoğanlar oluştururken, parenteral-nutrisyon grubundaki pretermler, gestasyon yaşı açısından en düşük hafta, doğum kilosu açısından ise en düşük doğum ağırlığına sahipti (üç grup arasında sırasıyla p<0,001, p<0,001). Kolestazın en geç ortaya çıktığı ve tanı süresinin 23,5 gün olduğu parenteral-nutrisyon grubunda, tüm olguların preterm yenidoğanlardan oluştuğu (doğum ağırlığı=1229 gram) saptandı. Tanı anında en yüksek direkt bilirubin değerlerine metabolik-genetik hastalıklarda, en düşük değerlere parenteral-nutrisyon grubunda rastlandı (p=0,030). Tanı anında 5,6 mg/dl altındaki direkt bilirubin değerlerinin %95 duyarlılık (AUC:0,683, duyarlılık:%95, özgüllük:%42,9) ile nutrisyonel kolestazı ön göreceği saptandı. Nutrisyonel kolestazda gamaglutamil transferazın ilk tanı anında diğer gruplara göre belirgin yüksek (p=0,010) olduğu; metabolik-genetik hastalıklarda transaminazların (AST, ALT) nutrisyonel kolestaza göre yüksek seyrettiği (p=0,043, p=0,013), protrombin süresindeki değişikliklerin erken tanı döneminde (p=0,001), hipoalbumineminin ise takip eden süreçte ortaya çıktığı anlaşıldı (p=0,013). Sonuç: Neonatal kolestazın erken dönemde tanınması ile medikal/cerrahi olarak tedavisi mümkün hastalıklarda kür sağlanabilecek, komplikasyonlar azaltılarak hastaların yaşam kalitesi artırılabilecektir.
Journal of Clinical Research in Pediatric Endocrinology, 2015
Children with Turner syndrome (TS) have a specific growth pattern that is quite different from th... more Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3 rd , 10 th , 25 th , 50 th , 75 th , 90 th and 97 th percentile values for defined ages and to construct growth curves for height-forage , weight-forage and BMI-forage of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.
European Journal of Paediatric Neurology, May 1, 2015
variable even within the family members with similar genotype. It is very important to check seru... more variable even within the family members with similar genotype. It is very important to check serum potassium level in a child presenting with muscle stiffness/weakness symptoms as it can be treated quickly with potassium supplement. Daily attention to restriction of vigorous exercises, reserved intake of carbohydrate and avoidance of exposure to coldness is helpful.
Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelli... more Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelliklerinin, etiyolojilerinin, klinik ve laboratuvar verileri eşliğinde değerlendirilmesi amaçlandı. Gereç ve Yöntemler: Tek merkezli, retrospektif, 2016-2020 yıllarını kapsayan kohort çalışmaya direkt bilirubin değeri >2 mg/dl ya da total bilirubin seviyesi >5 mg/dl iken direkt bilirubin değerinin total bilirubinin >%20 olan yenidoğanlar alındı. Hastaların perinatal özellikleri, başvuru şikayetleri, klinik, laboratuvar verileri kaydedildi. Kolestaz nedenleri metabolik-genetik, sendromik, bilier, nutrisyonel, kardiyovasküler, enfeksiyon, endokrin ve sebebi açıklanamayan nedenler olarak gruplandırıldı. İstatistiksel değerlendirme üç temel grupta (metabolik-genetik, parenteral-nutrisyonilişkili, diğerleri) yapıldı. Bulgular: Neonatal kolestaz sıklığı 8,5/1000 yenidoğan olarak saptandı. En sık nedenleri parenteral nutrisyon (%36,4) ile metabolik-genetik hastalıklar (%32,7) oluşturdu. Çalışmaya alınan hastaların %76,4'ünü preterm-yenidoğanlar oluştururken, parenteral-nutrisyon grubundaki pretermler, gestasyon yaşı açısından en düşük hafta, doğum kilosu açısından ise en düşük doğum ağırlığına sahipti (üç grup arasında sırasıyla p<0,001, p<0,001). Kolestazın en geç ortaya çıktığı ve tanı süresinin 23,5 gün olduğu parenteral-nutrisyon grubunda, tüm olguların preterm yenidoğanlardan oluştuğu (doğum ağırlığı=1229 gram) saptandı. Tanı anında en yüksek direkt bilirubin değerlerine metabolik-genetik hastalıklarda, en düşük değerlere parenteral-nutrisyon grubunda rastlandı (p=0,030). Tanı anında 5,6 mg/dl altındaki direkt bilirubin değerlerinin %95 duyarlılık (AUC:0,683, duyarlılık:%95, özgüllük:%42,9) ile nutrisyonel kolestazı ön göreceği saptandı. Nutrisyonel kolestazda gamaglutamil transferazın ilk tanı anında diğer gruplara göre belirgin yüksek (p=0,010) olduğu; metabolik-genetik hastalıklarda transaminazların (AST, ALT) nutrisyonel kolestaza göre yüksek seyrettiği (p=0,043, p=0,013), protrombin süresindeki değişikliklerin erken tanı döneminde (p=0,001), hipoalbumineminin ise takip eden süreçte ortaya çıktığı anlaşıldı (p=0,013). Sonuç: Neonatal kolestazın erken dönemde tanınması ile medikal/cerrahi olarak tedavisi mümkün hastalıklarda kür sağlanabilecek, komplikasyonlar azaltılarak hastaların yaşam kalitesi artırılabilecektir.
Tetanus, a vaccine-preventable disease threatens life. Tetanus has four clinical presentations: n... more Tetanus, a vaccine-preventable disease threatens life. Tetanus has four clinical presentations: neonatal, localized, cephalic, and generalized. Generalized tetanus was the most common presenting feature on admission to the hospital. We report a case with generalized tetanus with difficulty swallowing and sore throat by admission. She was eight years old. She had symptoms on the fifth day of nail soak. She rapidly developed an opisthotonic posture on the first day of admission. She was discharged on foot on the seventieth day. Generalized tetanus should be kept in mind that a patient may be admitted to a hospital with difficulty swallowing and a sore throat.
Pediatric Allergy Immunology and Pulmonology, Mar 1, 2022
Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enh... more Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation. Case: A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. Conclusion: SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in ch... more Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, affecting the joints and lasting at least 6 weeks, with the age of disease onset under 16 years. The classification of the childhood chronic arthritis hasn't been solved. Objectives We aimed that analysing the demographics, clinical and laboratory features, disease status, and subtype distributions of JIA according to the International League of Associations for Rheumatology (ILAR) criteria in Turkey. Methods Between March 2010 and February 2014 with this cross-sectional study, consecutive patients seen with JIA in selected 5 major centres. All patients were classified according to the ILAR criteria. Related to the disease status assessment we evaluate acute phase reactants, physician-patient-parent global assessment of overall disease activity (PGA)(21circle VAS), pain scale (10cm VAS), disease status, and Juvenile Arthritis Damage Index (JADI). We checked the correlations between physician-patient-parent global assessment (PGA) of overall disease activity, and disease status scores. Results In this study, 208 (58.1%) females and 150 (41.9%) males were evaluated (Female/Male:1.39). The mean age of patients was 11.15±4.47 years. The distributions of JIA patients according to onset of disease were as follows: systemic 50 (13.9%), oligoarticular extended 35 (9.4%), oligoarticular persistent 104 (29%), rheumatoid factor (RF) positive polyarthritis 5 (1.2%), RF negative polyarthritis 89 (24.9%), enthesitis-related 51 (13.8%), psoriatic 15 (3.8%), unclassified group 9 (2.6%). The frequency of uveitis was 21 (15.1%) among all of the oligoarticular patients and 12 (5.5%) among in the other group. ANA was positive mainly among the oligoarticular onset patients. 16 patients also had FMF. Among systemic JIA patients, the frequency of macrophage activation syndrome was 24% (n=12). Related to the disease status of the subtypes of JIA revealed that while the RF positive polyarthritis was found to have the highest, and the unclassified group has the lowest activity score via using Articular JADI. The RF (-) polyarthritis was found to has the highest, and the unclassified group has the lowest activity score according to the Extra-articular JADI. Based on the last week's parent-patient-pain score, while the unclassified group has the highest, the psoriatic arthritis has the lowest activity score. Assessment of the disease status by the PGA was resulted the fact that there was statistically significant positive correlation between parent-patient (r=0.770), moderate positive correlation between physician-parent (r=0.456) and physician-patient (r=0.512). There was also statistically positive correlation between the patient and parent pain score (r=0.857). Conclusions We assessed the main clinical and laboratory features, and the disease activity status of the Turkish patients with childhood chronic arthritis. We evaluated the diagnoses and the subtype distributions according to ILAR classification. Disclosure of Interest None declared
Necrotizing enterocolitis (NEC) is one of the most common gastrointestinal (GI) emergencies affli... more Necrotizing enterocolitis (NEC) is one of the most common gastrointestinal (GI) emergencies afflicting predominantly premature infants in neonatal intensive care units (NICU) [1]. The disease is often observed in premature infants with low birth-weight and gestational age. Low APGAR scores, chorioamnionitis, exchange transfusion, prolonged rupture of membranes, congenital heart disease, and neural tube defects are among other predisposing factors [2]. Its incidence varies between 5% and 10% among infants born at less than 32 weeks of gestation and with a birth weight of less than 1500 g [3]. The mortality of NEC ranges from 10% to 50% and survivors suffer from significant morbidity, such as long-term requirement 24 for parenteral nutrition, malabsorption and malnutrition related to 25 short bowel syndrome, and neurodevelopmental, neurosensory, and 26 functional disabilities [4]. Despite prematurity, enteral feeding, 27 intestinal hypoxia-ischemia, and bacterial colonization have been 28 hypothesized to cause NEC. Besides being difficult to treat, there is no 29 effective preventative strategy of NEC [5]. 30 The diagnosis of NEC is based on modified Bell criteria proposed 31 by Walsh and Kleigman, who developed the criteria with systemic, 32 abdominal and radiologic findings to more clearly classify NEC 33 [6]. There is no diagnostic laboratory findings, but only supportive 34 in diagnosis of NEC [7]. The presenting signs are nonspecific, such 35 as feeding intolerance, abdominal distention or tenderness, occult 36 or gross blood in the stool, lethargy, apnea, respiratory distress, or 37 poor perfusion that resembles diseases like sepsis and respiratory 38 distress syndrome [8]. Thus, detecting infants at risk for NEC or 39 those in early stages of the disease would offer opportunities for 40 early intervention. 41 The fecal proteins calprotectin (FCAL) and lactoferrin (FLF), 42 which are derived from neutrophils, have the potential to be ideal Advances in Medical Sciences xxx (2015) xxx-xxx
Aim: Endocrine diseases can affect patients with sleep disorders. Different mechanisms are implie... more Aim: Endocrine diseases can affect patients with sleep disorders. Different mechanisms are implied in sleep disorders in different endocrine diseases. Long-term sleep disorders are hypothesized to have an autoimmune etiology. We sought to determine the sleep patterns and disorders in adolescents with Hashimoto's thyroiditis. Material-methods: Reliability and validity confirmed Pediatric Sleep Questionnaire was conducted 30 adolescent with Hashimoto's thyroiditis and age matched 48 healthy children. Results: Patients with Hashimoto's thyroiditis have been suffering from the disease approximately for 4.5±3.5 years, fT4 and TSH average was 1.29±0.12 ng/dL and 2.36±1.47 µIU/mL, respectively. Although scores of snoring, breathing and behavior were similar, score of sleep quality and intra-day activity was significantly different (p=0.04). Conclusion: Sleep has a vital role for healthy life and good school performance. Hashimoto's thyroiditis can affect sleep quality. Sleep related problems should be investigated in chronic conditions like Hashimoto's thyroiditis.
Aim: Chronic diseases are associated with sleep disorders. Sleep and related problems usually esc... more Aim: Chronic diseases are associated with sleep disorders. Sleep and related problems usually escape from attention of both physicians and families. It is aimed to investigate the sleep quality in adolescents with type 1 diabetes mellitus. Material-methods: Reliability and validity confirmed Pediatric Sleep Questionnaire was conducted 30 adolescent with type 1 diabetes and age matched 55 healthy teenagers. Results: Mean diabetes duration of patients was 4.5±3.5 years. Recent three HbA1C average was 7.66%±0.77 (min:5.9-max:9.4). Although scores of snoring, breathing and behavior were similar score of sleep quality and intra-day activity was significantly different (p=0.012). Conclusion: Sleep is very important for healthy life, and good school performance. It should be kept in mind that chronic diseases like T1DM affect sleep quality. Sleep related problems usually missed by parents and physicians must be exposed and looked for solution if possible.
Objective.Our aims were to validate the pediatric diagnostic criteria in a large international re... more Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity...
Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in ch... more Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, affecting the joints and lasting at least 6 weeks, with the age of disease onset under 16 years. The classification of the childhood chronic arthritis hasn't been solved. Objectives We aimed that analysing the demographics, clinical and laboratory features, disease status, and subtype distributions of JIA according to the International League of Associations for Rheumatology (ILAR) criteria in Turkey. Methods Between March 2010 and February 2014 with this cross-sectional study, consecutive patients seen with JIA in selected 5 major centres. All patients were classified according to the ILAR criteria. Related to the disease status assessment we evaluate acute phase reactants, physician-patient-parent global assessment of overall disease activity (PGA)(21circle VAS), pain scale (10cm VAS), disease status, and Juvenile Arthritis Damage Index (JADI). We checked the correlations between physician-patient-parent global assessment (PGA) of overall disease activity, and disease status scores. Results In this study, 208 (58.1%) females and 150 (41.9%) males were evaluated (Female/Male:1.39). The mean age of patients was 11.15±4.47 years. The distributions of JIA patients according to onset of disease were as follows: systemic 50 (13.9%), oligoarticular extended 35 (9.4%), oligoarticular persistent 104 (29%), rheumatoid factor (RF) positive polyarthritis 5 (1.2%), RF negative polyarthritis 89 (24.9%), enthesitis-related 51 (13.8%), psoriatic 15 (3.8%), unclassified group 9 (2.6%). The frequency of uveitis was 21 (15.1%) among all of the oligoarticular patients and 12 (5.5%) among in the other group. ANA was positive mainly among the oligoarticular onset patients. 16 patients also had FMF. Among systemic JIA patients, the frequency of macrophage activation syndrome was 24% (n=12). Related to the disease status of the subtypes of JIA revealed that while the RF positive polyarthritis was found to have the highest, and the unclassified group has the lowest activity score via using Articular JADI. The RF (-) polyarthritis was found to has the highest, and the unclassified group has the lowest activity score according to the Extra-articular JADI. Based on the last week's parent-patient-pain score, while the unclassified group has the highest, the psoriatic arthritis has the lowest activity score. Assessment of the disease status by the PGA was resulted the fact that there was statistically significant positive correlation between parent-patient (r=0.770), moderate positive correlation between physician-parent (r=0.456) and physician-patient (r=0.512). There was also statistically positive correlation between the patient and parent pain score (r=0.857). Conclusions We assessed the main clinical and laboratory features, and the disease activity status of the Turkish patients with childhood chronic arthritis. We evaluated the diagnoses and the subtype distributions according to ILAR classification. Disclosure of Interest None declared
International Journal of Clinical Rheumatology, 2013
Recent advances in the management of children with familial Mediterranean fever Familial Mediterr... more Recent advances in the management of children with familial Mediterranean fever Familial Mediterranean fever (FMF) is the most frequent hereditary autoinflammatory disease characterized by self-limited episodes of fever and serositis. FMF is more prevalent among non-Askhenazi Jewish, Turkish, Arabic and Armenian populations. FMF is inherited with an autosomal recessive pattern and is caused by mutations in the MEFV gene located on chromosome 16p13.3, encoding pyrin. AA type amyloidosis and the associated renal impairment are the most severe long-term complications. The diagnosis is established on the grounds of clinical findings. There have been a number of diagnostic criteria in the literature: the Tel Hashomer and Livneh criteria were first developed for the diagnosis of adult FMF patients. A new set of diagnostic criteria was recently proposed by Yalcinkaya et al. Colchicine is the best treatment option for the time being and some new agents have been tried in cases where there is colchicine resistance. KEYWORDS: autoinflammatory disease n colchicine n familial Mediterranean fever n MEFV gene n pyrin/marenostrin
Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare, multifocal venous malformation. It... more Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare, multifocal venous malformation. It most commonly affects the skin and the subcutaneous tissues or the viscera, especially the gastrointestinal tract, and less often the central nervous system. Diagnosis is based on clinical, radiological, and histopathological features. There is currently no medically curative treatment; however, sirolimus, an oral immunosuppressant drug, has recently been used effectively in patients with BRBNS. Case Report: Presently described is a case of neonatal BRBNS. The infant was born with diffuse skin and visceral organ involvement. In addition to supportive therapy, such as blood product transfusions, and excisions of the lesions, propranolol, corticosteroid and sirolimus treatment was administered, but without response. Conclusion: The patient died as a result of massive bleeding in the endotracheal tube, possibly due to lesions located in the lungs. To the best of our knowledge, this has not previously been reported in the literature.
Pediatric Allergy, Immunology, and Pulmonology, 2022
Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enh... more Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation. Case: A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. Conclusion: SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelli... more Amaç: Yenidoğan yoğun bakım ünitesinde yatan bebeklerde kolestaz sıklığının, karakteristik özelliklerinin, etiyolojilerinin, klinik ve laboratuvar verileri eşliğinde değerlendirilmesi amaçlandı. Gereç ve Yöntemler: Tek merkezli, retrospektif, 2016-2020 yıllarını kapsayan kohort çalışmaya direkt bilirubin değeri >2 mg/dl ya da total bilirubin seviyesi >5 mg/dl iken direkt bilirubin değerinin total bilirubinin >%20 olan yenidoğanlar alındı. Hastaların perinatal özellikleri, başvuru şikayetleri, klinik, laboratuvar verileri kaydedildi. Kolestaz nedenleri metabolik-genetik, sendromik, bilier, nutrisyonel, kardiyovasküler, enfeksiyon, endokrin ve sebebi açıklanamayan nedenler olarak gruplandırıldı. İstatistiksel değerlendirme üç temel grupta (metabolik-genetik, parenteral-nutrisyonilişkili, diğerleri) yapıldı. Bulgular: Neonatal kolestaz sıklığı 8,5/1000 yenidoğan olarak saptandı. En sık nedenleri parenteral nutrisyon (%36,4) ile metabolik-genetik hastalıklar (%32,7) oluşturdu. Çalışmaya alınan hastaların %76,4'ünü preterm-yenidoğanlar oluştururken, parenteral-nutrisyon grubundaki pretermler, gestasyon yaşı açısından en düşük hafta, doğum kilosu açısından ise en düşük doğum ağırlığına sahipti (üç grup arasında sırasıyla p<0,001, p<0,001). Kolestazın en geç ortaya çıktığı ve tanı süresinin 23,5 gün olduğu parenteral-nutrisyon grubunda, tüm olguların preterm yenidoğanlardan oluştuğu (doğum ağırlığı=1229 gram) saptandı. Tanı anında en yüksek direkt bilirubin değerlerine metabolik-genetik hastalıklarda, en düşük değerlere parenteral-nutrisyon grubunda rastlandı (p=0,030). Tanı anında 5,6 mg/dl altındaki direkt bilirubin değerlerinin %95 duyarlılık (AUC:0,683, duyarlılık:%95, özgüllük:%42,9) ile nutrisyonel kolestazı ön göreceği saptandı. Nutrisyonel kolestazda gamaglutamil transferazın ilk tanı anında diğer gruplara göre belirgin yüksek (p=0,010) olduğu; metabolik-genetik hastalıklarda transaminazların (AST, ALT) nutrisyonel kolestaza göre yüksek seyrettiği (p=0,043, p=0,013), protrombin süresindeki değişikliklerin erken tanı döneminde (p=0,001), hipoalbumineminin ise takip eden süreçte ortaya çıktığı anlaşıldı (p=0,013). Sonuç: Neonatal kolestazın erken dönemde tanınması ile medikal/cerrahi olarak tedavisi mümkün hastalıklarda kür sağlanabilecek, komplikasyonlar azaltılarak hastaların yaşam kalitesi artırılabilecektir.
Journal of Clinical Research in Pediatric Endocrinology, 2015
Children with Turner syndrome (TS) have a specific growth pattern that is quite different from th... more Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3 rd , 10 th , 25 th , 50 th , 75 th , 90 th and 97 th percentile values for defined ages and to construct growth curves for height-forage , weight-forage and BMI-forage of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.
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