Acute ischemic stroke is an important cause of mortality in childhood with variable long term neu... more Acute ischemic stroke is an important cause of mortality in childhood with variable long term neurological sequelae. This study presents long term follow up outcome data of our center which is a tertiary clinic with a well-organized pediatric stroke team. Medical records of patients diagnosed at pediatric age (28 days-18 years) with acute ischemic stroke between years 2011-2018 in Marmara University Pediatric Neurology Clinic were retrospectively evaluated. Patients whose initial medical intervention was performed by Marmara University Pediatric Emergency unit and had been followed by our clinic for at least 5 years after initial diagnoses were included in this study. The modi ed Rankin Scale(mRS) and Pediatric Stroke Outcome Measure Short Neuro Exam (PSE-SEN) were performed to all of the patients in addition to nal neurological examination. The mean rst ischemic stroke age of 32 patients (20 male,62,5%) included in the study was 77,39±61,93 months. First stroke age was grouped as early (≤60 months; n=16) and late (>61 months, n=16). The median time passed from initial symptom to emergency room admission was 15,5 (1-720) hours. The mean follow-up interval of the study group was 85,44±20,52 months and the mean age of the group at the time of the study (present age) was 162,62±64,4 months. Affected vascular territory did not have any signi cant effect on long-term clinical outcomes (p=0,550). Late stroke age group (>61 months) had a signi cantly higher rate of normal functional long-term outcome(p=0.023). The younger age group (≤60 months) had longer hospital admission time (24 h vs 9 h). PSOM scores were helpful to detect some mild cognitive and language dysfunctions that did not interfere with daily life. Pediatric Stroke Outcome Measure Short Neuro Exam (PSE-SEN) is helpful to catch mild neurocognitive sequela that can be missed with neurological examination. Considering the fact that time after rst symptom is critical for early intervention in acute ischemic stroke patients, stroke teams should be settled in all centrally located medical centers with easy transportation opportunities.
Introduction Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to... more Introduction Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright’s hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other non-hormonal features of PHP1A are limited. Case Presentation A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum PTH, and AHO features, including short stature and brachydactyly. A novel frameshift variant was det...
Turk Pediatri Arsivi-turkish Archives of Pediatrics, Jun 1, 2009
O Ol lg gu u S Su un nu um mu u C Ca as se e R Re ep po or rt t Ö Öz ze et t Tam kan say›m› aletl... more O Ol lg gu u S Su un nu um mu u C Ca as se e R Re ep po or rt t Ö Öz ze et t Tam kan say›m› aletleri günümüzde s›kça kullan›lmaktad›r. Tam kan say›m›nda trombosit say›s› düflük olmas›na ra¤men klinik ve öykü olarak kanama bulgusu olmayan ve EDTA veya sitratl› kandan yap›lan kan yaymas›nda trombositlerin saptanmad›¤›, ancak do¤rudan periferik kandan yap›lan yaymada trombositlerin görüldü¤ü durum psödotrombositopeni olarak tan›mlan›r. Psödotrombositopeni tan›s› koydu¤umuz olguyu sunarak bu konuya eriflkinden daha nadir olarak karfl›laflan çocuk hekimlerinin dikkatini çekmek istedik. (Türk Ped Arfl 2009; 44: 73-4) Anahtar kelimeler: Çocukluk ça¤›, trombositopeni, yalanc› trombositopeni Nowadays automated blood cell analysis is being widely used. When the history and physical examination do not suggest a defect in hemostasis, the thrombocyte count is found low in blood with the anticogulants EDTA or citrate although a blood film prepared directly from blood optained by finger puncture reveales normal thrombocytes. This thrombocytopenia is called pseudo or spurious thrombocytopenia. Here, sharing our experience on a pseudothromboctopenic child, we want to point to this topic altough it is less common in pediatric patients than adults.
NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by ... more NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by mutations in the IKBKG gene. Conventionally, patients are afflicted with life threatening recurrent microbial infections. Paradoxically, the spectrum of clinical manifestations includes severe inflammatory disorders. The mechanisms leading to autoinflammation in NEMO deficiency are currently unknown. Herein, we sought to investigate the underlying mechanisms of clinical autoinflammatory manifestations in a 12-years old male NEMO deficiency (EDA-ID, OMIM #300,291) patient by comparing the immune profile of the patient before and after hematopoietic stem cell transplantation (HSCT). Response to NF-kB activators were measured by cytokine ELISA. Neutrophil and low-density granulocyte (LDG) populations were analyzed by flow cytometry. PBMC transcriptome before and after HSCT and transcriptome of sorted normal-density neutrophils and LDGs were determined using the NanoString nCounter gene expression panels. ISG15 expression and protein ISGylation was based on Immunoblotting. Consistent with the immune deficiency, PBMCs of the patient were unresponsive to toll-like and T cell receptor-activators. Paradoxically, LDGs comprised 35% of patient PBMCs and elevated expression of genes such as MMP9, LTF, and LCN2 in the granulocytic lineage, high levels of IP-10 in the patient's plasma, spontaneous ISG15 expression and protein ISGylation indicative of a spontaneous type-I interferon (IFN) signature were observed, all of which normalized after HSCT. Collectively, our results suggest that type I IFN signature observed in the patient, dysregulated LDGs and spontaneously activated neutrophils, potentially contribute to tissue damage in NEMO deficiency.
Multipl sclerosis is a chronic disease of the central nervous system characterized by discrete ar... more Multipl sclerosis is a chronic disease of the central nervous system characterized by discrete areas of demyelination and axon injury The occurrence of multipl sclerosis in children younger than 16 years has been found to between 2 5 The incidence of posterior fossa plaques and tumefactive lesions were higher in children A fourteen year old boy who had a history of acute disseminhated encsephalomyelitis one year before and demosttrated tumefactive plaques confused with tumor or abscess in the second attack was diagnosed as multipl sclerosis Current knowledge of nbsp; the diagnosis differential diagnosis and therapy of nbsp; multipl sclerosis are discussed Key words: child interferon beta nbsp; multipl sclerosis tumefactive plaque
In recent years, tuberculosis has re-emerged as a serious public health problem, raising the poss... more In recent years, tuberculosis has re-emerged as a serious public health problem, raising the possibility that tuberculous eye disease may also have become more prevalent. Ocular tuberculosis usually occurs in apparently healthy individuals. It is rarely observed in patients with active pulmonary disease. An eight-year-old boy was admitted to our department because of chronic granulomatous anterior uveitis on his left eye. His medical history was unremarkable. There were no systemic symptoms of tuberculosis. He had a positive purified protein derivative test reaction. In our case, the diagnosis of ocular tuberculosis was presumptive and depended upon indirect evidence. The patient was started on anti-tuberculosis therapy with three drugs, which were continued for 12 months, with complete healing of the ocular lesions, including a marked improvement in the gait of the patient. Tuberculosis remains one of the most important causes of morbidity and mortality in developing countries.
The aim of this study was to present our experience in management of neonatal pneumothorax and fa... more The aim of this study was to present our experience in management of neonatal pneumothorax and factors contributing to persistent pneumothorax and mortality. Forty-two newborns were analyzed according to gestational age, birth weight, Apgar score, age of admittance, type of delivery, mother's age, side of pneumothorax, causes of pneumothorax, accompanying disorders, tube thoracostomy and mechanical ventilation durations, mean hospital stay, and deaths. Sixteen patients (38%) weighed less than 2500 g and 28 (66%) were preterm. The mean Apgar score at 5th minute was 6.2 (2-10). The pneumothorax was bilateral in 9 patients (21%). There was a defined underlying lung pathology in 26 (61%) patients and accompanying disorder in 14 (33%). Mean tube thoracostomy duration was 5 days (2-12). Twenty-five patients (59%) needed mechanical ventilation. Overall 10 babies died. Our findings indicated that underlying primary lung pathology, need for mechanical ventilation, and bilateral pneumotho...
To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in... more To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients. We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF. By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005. We detected homozygote mutations in 12 patients (25.3%) and heterozygote mutations in 23 patients (48.9%) out of 47 patients with high clinical suspicion of FMF using Tel Hashomer criteria. In 12 patients (25.3%), no mutation was detected despite the clinical diagnosis of FMF was likely according to the Tel Hashomer clinical criteria. On the other hand, we detected homozygote mutations in 2 patients (5.4%) and heterozygote mutations in 17 patients (45.9%) out of 37 pa...
Neuroendocrine complications are among important and frequently missed complications of traumatic... more Neuroendocrine complications are among important and frequently missed complications of traumatic brain injury. Hypopituitarism, the partial or complete insufficiency of anterior pituitary secretion may be underrecognized due to its subtle clinical manifestations in traumatic patients. We report a case of 14.5-year-old girl who was admitted due to growth failure and had been diagnosed to have multiple hypophyseal hormone deficiency including thyroid-stimulating hormone, gonadotropins, adrenocorticotropin hormone which developed years after traumatic head injury.
Acute idiopathic thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by platel... more Acute idiopathic thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by platelet destruction due to an antiplatelet autoantibody, usually of the IgG class, which coats autologue platelets and leads to their elimination by the reticuloendothelial system (RES). The onset is frequently acute and has a high rate of spontaneous remission. The rare mortality from acute ITP in childhood is almost exclusively due to intracranial hemorrhage. This complication occurs in less than 1% of ITP patients. About 25-30% of patients with ITP are refractory to corticosteroids, splenectomy and other treatments (intravenous immunoglobulin (IgG i.v.), i.v. anti-D, danazol, vinca alkaloids and other immunosuppressive agents such as azathioprine and cyclophosphamide). 2 It is reasonable to institute the alternative treatment modality in an attempt to increase the platelet count. It has been suggested that α-interferon 2b (IFN-α 2b) may be useful in the treatment of refractory ITP patients. This study was designed to evaluate the effect of IFN-α in eight patients whom did not respond to conventional therapy. The presented study was performed in the pediatric hematology unit of Dicle University Hospital. Thrombocytopenia associated with increased immature megakaryocytes and absence of malignant cell in the bone marrow were accepted as ITP. Other causes of thrombocytopenia were excluded by the help of examination and laboratory studies.
Background: Mycoplasma pneumoniae is a well known causative agent of infection in childhood but c... more Background: Mycoplasma pneumoniae is a well known causative agent of infection in childhood but clinical presentation may be variable. History and physical examination may not be so helpful for the diagnosis. It is difficult to culture this infectious agent, with the culture technique for the multiplication of the organism for routine investigation hard to obtain. The determination of exposure and prevalence of the disease of any region should be helpful for clinical diagnosis. In this study, we aimed to determine the seroprevalence of M. pneumoniae in children aged 0-14 years in Diyarbakir and establish the distribution of infection prevalence of various age groups of children. Methods: Thirty streets were determined according to the cluster method for the 0-6 years age group. In this age group, a total of 180 blood samples were collected; so that there were 30 samples for each age. For children aged 7-14 years, elementary school children were selected. There were 70 elementary schools in the city and 14 schools were randomly selected according to the randomized numbers table with a 20% sample. Finally, 276 blood samples were collected. Mycoplasma pneumoniae was determined by using the enzyme immunoassay method. For this method MELOTEST Mycoplasma IgG reagent was used. Results: The highest seropositivity rate was encountered at 10 years of age (65%) and lowest was at 2 years of age (0%). The overall M. pneumoniae seropositivity was 27% when all ages were considered together. The first 2 years of age excluded this rate and was 31.9%. A sudden increase of seropositivity was observed at 7 years of age. Conclusions: Increasing seroprevalence rates of M. pneumoniae after 2 years of age should alert clinicians to consider the organism in the differential diagnosis of infectious diseases in this age group. The low seroprevalence rates in the first 2 years of age was thought to be due to low risk of community-based spread of the organism in this age group. The most prominent increase in seroprevalence was at 10 years of age. This data indicated that M. pneumoniae should be kept in mind while making differential diagnosis of infections. The spreading of disease and community-based transmission is also important to consider. In our study, seroprevalence rates increased at 6 and 7 years of age, at the beginning of the school age as community-based transmission takes place most commonly in crowded circumstances. In conclusion, M. pneumoniae should be thought as an important infectious agent in childhood for all age groups.
Bu çalışmada sepsisin erken tanısında çözünebilen CD14 (sCD14) ve yüksek duyarlı C-reaktif protei... more Bu çalışmada sepsisin erken tanısında çözünebilen CD14 (sCD14) ve yüksek duyarlı C-reaktif protein (hs-CRP) düzeylerinin diğer laboratuvar verileriyle karşılaştırılması amaçlanmıştır. Yöntemler: Yenidoğan Servisi'nde 16'sı erkek, 11'i kız, toplam 27 yenidoğan bebekten alınan kan örneklerinde lökosit sayımı, nefelometrik yöntemlerle CRP ve hs-CRP ölçümleri, ek olarak ELISA yöntemiyle sCD14 ölçümleri gerçekleştirilmiştir. BACTEC 9050 otomatize kan kültürü sistemi aracılığıyla kan kültürleri yapılmıştır. Çalışmaya dahil edilen yenidoğanlarda laboratuvar verileri ve klinik gözlemler kullanılarak Töllner sepsis skorları belirlenmiştir. Çalışma için yerel Etik Kurulu onayı alınmış ve yapılacak uygulamalar hakkında aileler bilgilendirilerek onay alınmıştır. Konjenital anomalisi olan bebekler çalışma dışında tutulmuştur. Bulgular: Bebeklerde en sık görülen semptom %74 (20/27) oranında beslenmenin reddi olmuş, takiben de letarji ve sarılık saptanmıştır. Sepsis ön tanısı almış 13 bebeğin 4'ünde kan kültürü pozitif bulunmuştur. CRP ölçümleri sepsis tanısı almış 13 bebeğin 7'sinde pozitif bulunurken, sepsis ve CRP arasında anlamlı düzeyde istatistiksel ilişki gözlenmiştir. Sepsis tanılı bebeklerin 12'sinde hs-CRP pozitif (p<0.003), 13 bebeğin tamamında sCD14 pozitif (klinikle uyumlu ilişki; p<0.001) bulunmuştur. Uygulanan sCD14, hs-CRP ve CRP testleri için duyarlılık ve özgüllük oranları sırasıyla %100 ve %57, %93 ve %64, %54 ve %100 olarak hesaplanmıştır. Sonuçlar: Yenidoğan sepsisinde klinik özelliklerle sCD14 ve hs-CRP arasında anlamlı bir korelasyon gözlenmiş, bu gözlemle sCD14 ve hs-CRP'nin yenidoğan sepsisinin erken tanısına katkı sağlayacağı kanısına varılmıştır.
Nefroblastomatoz çoğul veya diffüz nefrojenik artıkların ve onların örneklerinin varlığı olarak t... more Nefroblastomatoz çoğul veya diffüz nefrojenik artıkların ve onların örneklerinin varlığı olarak tanımlanmaktadır. Nefroblastomatoz sıklıkla yenidoğanlarda görülür ve multipl bilateral subkapsüler kitlelerle karakterizedir. Biz panlobar nefroblastomatozlu seyrek görülen term yenidoğan bir olguyu sunuyoruz. Bizim incelememiz de olduğu gibi daha önce literatürde panlobar tip nefroblastomatoz ve mesane boynu polip birlikteliği ilişkisi saptanmadı.
An evaluation of growth hormone (GH) testing for GH deficiency (GHD) in childhood is confounded b... more An evaluation of growth hormone (GH) testing for GH deficiency (GHD) in childhood is confounded by the lack of a world-wide consensus on the definition of GHD. Although a single GH test remains the most powerful biochemical tool in the evaluation of a child with growth failure, the test remains far from ideal. Withdrawal of somatostatin (SS) infusion is followed by a rebound rise of GH thought to be mediated by endogenous GH-releasing hormone (GHRH) function. This study was designed to compare the GH response to 90 min SS infusion in children with normal GH secretion versus children with GH deficiency. Ten children with GHD and 10 healthy controls (NC) have been evaluated for GH response to somatostatin infusion withdrawal (SSIW) and compared with response of two provocative tests, glucagon plus propranolol test and L-Dopa test. All children received constant infusion of somatostatin for 90 min (3 microg/kg per h, Stilamin, Serono, Aubonne, Switzerland). In order to determine GH, blood samples were obtained 90 min before the SS infusion and 0, 15, 30, 45, 60, 75, and 90 min after the cessation of infusion. Growth hormone peak levels with SSIW were significantly lower in GH deficient children than in healthy children (2.5 +/- 1.2 ng/dL, vs 21.9 +/- 5.3 ng/dL, respectively, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01). No adverse effects were observed during or after somatostatin infusion. In the present study, SSIW elicited a significant GH rise in healthy children but not in children with GH deficiency. Although further controlled studies using more data are necessary to expand these findings, the results suggested that children with GH deficiency can be reliably discriminated from healthy children by SSIW.
Scabies and pediculosis are ubiquitous, contagious, and debilitating parasitic dermatoses. The te... more Scabies and pediculosis are ubiquitous, contagious, and debilitating parasitic dermatoses. The tendency of high prevalence of pediculosis and scabies among school and preschool age children has prompted us to conduct a head louse and scabies prevalence survey among preschool nursery children in our district. A school-based, crosssectional study was performed, with 1,134 children chosen for evaluation. All cases were evaluated by physical examination and a detailed, structured questionnaire. The infestation was found in 14 (1.2%) of 1,134 children; 9 (0.8%) with pediculosis capitis and 5 (0.4%) with scabies. We found that infestations were more frequent in children with mothers whose education levels were low. This indicates the necessity of an improvement in the economic and sociocultural status of the community and the promotion of hygiene concepts and practices in order to improve health of preschool age children.
The aim of our study was to compare the efficacy of combined interferon-alpha and lamivudine in c... more The aim of our study was to compare the efficacy of combined interferon-alpha and lamivudine in children with chronic hepatitis B infection and two durations of treatment (6 and 12 months). Combination of interferon-alpha 2b (10 MU/m2 of body surface) and lamivudine 4 mg/kg (maximum, 100 mg) were given synchronously to 30 patients for 6 months (Group 1) and to 27 patients for 12 months (Group 2). Biochemical, virologic and serologic features were compared between two groups at the end of therapy and 6 months after therapy. Hepatitis B e antigen clearances were 33 and 59% at the end of treatment and 37 and 56% 6 months after therapy in Groups 1 and 2, respectively (P &gt; 0.05). Hepatitis B virus DNA clearances were 97 and 100% at the end of treatment and 97 and 96% 6 months after therapy in Groups 1 and 2, respectively (P &gt; 0.05). In both groups normalization of alanine aminotransferase was maintained at the end of therapy and 6 months after therapy (P &lt; 0.05). Sustained complete responses were obtained in 20 and 37% of patients at the end of therapy and 6 months after therapy, respectively (P = 0.07). When the combination of large dosage interferon-alpha 2b and lamivudine therapy in children was compared at the end of therapy and 6 months after therapy, normalization of alanine aminotransferase and the clearances of hepatitis B e antigen and hepatitis B surface antigen in both groups were directly proportional to the duration of treatment. However, the higher complete response rate at 12 months of combination therapy was not statistically different from that at 6 months.
Children and adolescents with type I diabetes mellitus (DM) may present with diabetic ketoacidosi... more Children and adolescents with type I diabetes mellitus (DM) may present with diabetic ketoacidosis (DKA), which is associated with significant morbidity and mortality. This study aimed to evaluate the hematological parameters at diagnosis (0th hour) and 96th hour after the initiation of treatment in children with DKA. Twenty-six children with DKA treated in Dicle University Faculty of Medicine between September 2002 and August 2003 were included in this study. General characteristics of the patients and hematological parameters (platelet count, white blood cell count, prothrombin time, partial thromboplastin time (PTT), bleeding time, coagulation time, protein C, protein S, antithrombin III, fibrinogen, D-dimer, factor VIII, factor IX, and factor X levels) at diagnosis (0th hour) and 96th hour after the initiation of treatment were determined. The mean age of the children (10 girls and 16 boys) was 9.15 ± 3.85 years (range: 4-15 years). DKA developed for the first time in 58.3% of these children and they had recently been diagnosed as DM. After hematological parameters at 0th hour were evaluated, increased platelet count, decreased PTT, low protein C, and high factor VIII levels were determined at diagnosis, indicating prothrombotic tendency. If the hematological parameters at 0th hour were compared with those at 96th hour; platelet count decreased, PTT increased, protein C and factor VIII levels turned to be normal at 96th hour. When all the results are considered together, children with DKA appeared to have a prothrombotic tendency. Although this tendency was not reflected in clinical findings in this study, it should be kept in mind that children with DKA are prone to the development of thrombosis and they need to be investigated for the possibility of thrombosis.
Acute ischemic stroke is an important cause of mortality in childhood with variable long term neu... more Acute ischemic stroke is an important cause of mortality in childhood with variable long term neurological sequelae. This study presents long term follow up outcome data of our center which is a tertiary clinic with a well-organized pediatric stroke team. Medical records of patients diagnosed at pediatric age (28 days-18 years) with acute ischemic stroke between years 2011-2018 in Marmara University Pediatric Neurology Clinic were retrospectively evaluated. Patients whose initial medical intervention was performed by Marmara University Pediatric Emergency unit and had been followed by our clinic for at least 5 years after initial diagnoses were included in this study. The modi ed Rankin Scale(mRS) and Pediatric Stroke Outcome Measure Short Neuro Exam (PSE-SEN) were performed to all of the patients in addition to nal neurological examination. The mean rst ischemic stroke age of 32 patients (20 male,62,5%) included in the study was 77,39±61,93 months. First stroke age was grouped as early (≤60 months; n=16) and late (>61 months, n=16). The median time passed from initial symptom to emergency room admission was 15,5 (1-720) hours. The mean follow-up interval of the study group was 85,44±20,52 months and the mean age of the group at the time of the study (present age) was 162,62±64,4 months. Affected vascular territory did not have any signi cant effect on long-term clinical outcomes (p=0,550). Late stroke age group (>61 months) had a signi cantly higher rate of normal functional long-term outcome(p=0.023). The younger age group (≤60 months) had longer hospital admission time (24 h vs 9 h). PSOM scores were helpful to detect some mild cognitive and language dysfunctions that did not interfere with daily life. Pediatric Stroke Outcome Measure Short Neuro Exam (PSE-SEN) is helpful to catch mild neurocognitive sequela that can be missed with neurological examination. Considering the fact that time after rst symptom is critical for early intervention in acute ischemic stroke patients, stroke teams should be settled in all centrally located medical centers with easy transportation opportunities.
Introduction Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to... more Introduction Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright’s hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other non-hormonal features of PHP1A are limited. Case Presentation A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum PTH, and AHO features, including short stature and brachydactyly. A novel frameshift variant was det...
Turk Pediatri Arsivi-turkish Archives of Pediatrics, Jun 1, 2009
O Ol lg gu u S Su un nu um mu u C Ca as se e R Re ep po or rt t Ö Öz ze et t Tam kan say›m› aletl... more O Ol lg gu u S Su un nu um mu u C Ca as se e R Re ep po or rt t Ö Öz ze et t Tam kan say›m› aletleri günümüzde s›kça kullan›lmaktad›r. Tam kan say›m›nda trombosit say›s› düflük olmas›na ra¤men klinik ve öykü olarak kanama bulgusu olmayan ve EDTA veya sitratl› kandan yap›lan kan yaymas›nda trombositlerin saptanmad›¤›, ancak do¤rudan periferik kandan yap›lan yaymada trombositlerin görüldü¤ü durum psödotrombositopeni olarak tan›mlan›r. Psödotrombositopeni tan›s› koydu¤umuz olguyu sunarak bu konuya eriflkinden daha nadir olarak karfl›laflan çocuk hekimlerinin dikkatini çekmek istedik. (Türk Ped Arfl 2009; 44: 73-4) Anahtar kelimeler: Çocukluk ça¤›, trombositopeni, yalanc› trombositopeni Nowadays automated blood cell analysis is being widely used. When the history and physical examination do not suggest a defect in hemostasis, the thrombocyte count is found low in blood with the anticogulants EDTA or citrate although a blood film prepared directly from blood optained by finger puncture reveales normal thrombocytes. This thrombocytopenia is called pseudo or spurious thrombocytopenia. Here, sharing our experience on a pseudothromboctopenic child, we want to point to this topic altough it is less common in pediatric patients than adults.
NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by ... more NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by mutations in the IKBKG gene. Conventionally, patients are afflicted with life threatening recurrent microbial infections. Paradoxically, the spectrum of clinical manifestations includes severe inflammatory disorders. The mechanisms leading to autoinflammation in NEMO deficiency are currently unknown. Herein, we sought to investigate the underlying mechanisms of clinical autoinflammatory manifestations in a 12-years old male NEMO deficiency (EDA-ID, OMIM #300,291) patient by comparing the immune profile of the patient before and after hematopoietic stem cell transplantation (HSCT). Response to NF-kB activators were measured by cytokine ELISA. Neutrophil and low-density granulocyte (LDG) populations were analyzed by flow cytometry. PBMC transcriptome before and after HSCT and transcriptome of sorted normal-density neutrophils and LDGs were determined using the NanoString nCounter gene expression panels. ISG15 expression and protein ISGylation was based on Immunoblotting. Consistent with the immune deficiency, PBMCs of the patient were unresponsive to toll-like and T cell receptor-activators. Paradoxically, LDGs comprised 35% of patient PBMCs and elevated expression of genes such as MMP9, LTF, and LCN2 in the granulocytic lineage, high levels of IP-10 in the patient's plasma, spontaneous ISG15 expression and protein ISGylation indicative of a spontaneous type-I interferon (IFN) signature were observed, all of which normalized after HSCT. Collectively, our results suggest that type I IFN signature observed in the patient, dysregulated LDGs and spontaneously activated neutrophils, potentially contribute to tissue damage in NEMO deficiency.
Multipl sclerosis is a chronic disease of the central nervous system characterized by discrete ar... more Multipl sclerosis is a chronic disease of the central nervous system characterized by discrete areas of demyelination and axon injury The occurrence of multipl sclerosis in children younger than 16 years has been found to between 2 5 The incidence of posterior fossa plaques and tumefactive lesions were higher in children A fourteen year old boy who had a history of acute disseminhated encsephalomyelitis one year before and demosttrated tumefactive plaques confused with tumor or abscess in the second attack was diagnosed as multipl sclerosis Current knowledge of nbsp; the diagnosis differential diagnosis and therapy of nbsp; multipl sclerosis are discussed Key words: child interferon beta nbsp; multipl sclerosis tumefactive plaque
In recent years, tuberculosis has re-emerged as a serious public health problem, raising the poss... more In recent years, tuberculosis has re-emerged as a serious public health problem, raising the possibility that tuberculous eye disease may also have become more prevalent. Ocular tuberculosis usually occurs in apparently healthy individuals. It is rarely observed in patients with active pulmonary disease. An eight-year-old boy was admitted to our department because of chronic granulomatous anterior uveitis on his left eye. His medical history was unremarkable. There were no systemic symptoms of tuberculosis. He had a positive purified protein derivative test reaction. In our case, the diagnosis of ocular tuberculosis was presumptive and depended upon indirect evidence. The patient was started on anti-tuberculosis therapy with three drugs, which were continued for 12 months, with complete healing of the ocular lesions, including a marked improvement in the gait of the patient. Tuberculosis remains one of the most important causes of morbidity and mortality in developing countries.
The aim of this study was to present our experience in management of neonatal pneumothorax and fa... more The aim of this study was to present our experience in management of neonatal pneumothorax and factors contributing to persistent pneumothorax and mortality. Forty-two newborns were analyzed according to gestational age, birth weight, Apgar score, age of admittance, type of delivery, mother's age, side of pneumothorax, causes of pneumothorax, accompanying disorders, tube thoracostomy and mechanical ventilation durations, mean hospital stay, and deaths. Sixteen patients (38%) weighed less than 2500 g and 28 (66%) were preterm. The mean Apgar score at 5th minute was 6.2 (2-10). The pneumothorax was bilateral in 9 patients (21%). There was a defined underlying lung pathology in 26 (61%) patients and accompanying disorder in 14 (33%). Mean tube thoracostomy duration was 5 days (2-12). Twenty-five patients (59%) needed mechanical ventilation. Overall 10 babies died. Our findings indicated that underlying primary lung pathology, need for mechanical ventilation, and bilateral pneumotho...
To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in... more To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients. We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF. By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005. We detected homozygote mutations in 12 patients (25.3%) and heterozygote mutations in 23 patients (48.9%) out of 47 patients with high clinical suspicion of FMF using Tel Hashomer criteria. In 12 patients (25.3%), no mutation was detected despite the clinical diagnosis of FMF was likely according to the Tel Hashomer clinical criteria. On the other hand, we detected homozygote mutations in 2 patients (5.4%) and heterozygote mutations in 17 patients (45.9%) out of 37 pa...
Neuroendocrine complications are among important and frequently missed complications of traumatic... more Neuroendocrine complications are among important and frequently missed complications of traumatic brain injury. Hypopituitarism, the partial or complete insufficiency of anterior pituitary secretion may be underrecognized due to its subtle clinical manifestations in traumatic patients. We report a case of 14.5-year-old girl who was admitted due to growth failure and had been diagnosed to have multiple hypophyseal hormone deficiency including thyroid-stimulating hormone, gonadotropins, adrenocorticotropin hormone which developed years after traumatic head injury.
Acute idiopathic thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by platel... more Acute idiopathic thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by platelet destruction due to an antiplatelet autoantibody, usually of the IgG class, which coats autologue platelets and leads to their elimination by the reticuloendothelial system (RES). The onset is frequently acute and has a high rate of spontaneous remission. The rare mortality from acute ITP in childhood is almost exclusively due to intracranial hemorrhage. This complication occurs in less than 1% of ITP patients. About 25-30% of patients with ITP are refractory to corticosteroids, splenectomy and other treatments (intravenous immunoglobulin (IgG i.v.), i.v. anti-D, danazol, vinca alkaloids and other immunosuppressive agents such as azathioprine and cyclophosphamide). 2 It is reasonable to institute the alternative treatment modality in an attempt to increase the platelet count. It has been suggested that α-interferon 2b (IFN-α 2b) may be useful in the treatment of refractory ITP patients. This study was designed to evaluate the effect of IFN-α in eight patients whom did not respond to conventional therapy. The presented study was performed in the pediatric hematology unit of Dicle University Hospital. Thrombocytopenia associated with increased immature megakaryocytes and absence of malignant cell in the bone marrow were accepted as ITP. Other causes of thrombocytopenia were excluded by the help of examination and laboratory studies.
Background: Mycoplasma pneumoniae is a well known causative agent of infection in childhood but c... more Background: Mycoplasma pneumoniae is a well known causative agent of infection in childhood but clinical presentation may be variable. History and physical examination may not be so helpful for the diagnosis. It is difficult to culture this infectious agent, with the culture technique for the multiplication of the organism for routine investigation hard to obtain. The determination of exposure and prevalence of the disease of any region should be helpful for clinical diagnosis. In this study, we aimed to determine the seroprevalence of M. pneumoniae in children aged 0-14 years in Diyarbakir and establish the distribution of infection prevalence of various age groups of children. Methods: Thirty streets were determined according to the cluster method for the 0-6 years age group. In this age group, a total of 180 blood samples were collected; so that there were 30 samples for each age. For children aged 7-14 years, elementary school children were selected. There were 70 elementary schools in the city and 14 schools were randomly selected according to the randomized numbers table with a 20% sample. Finally, 276 blood samples were collected. Mycoplasma pneumoniae was determined by using the enzyme immunoassay method. For this method MELOTEST Mycoplasma IgG reagent was used. Results: The highest seropositivity rate was encountered at 10 years of age (65%) and lowest was at 2 years of age (0%). The overall M. pneumoniae seropositivity was 27% when all ages were considered together. The first 2 years of age excluded this rate and was 31.9%. A sudden increase of seropositivity was observed at 7 years of age. Conclusions: Increasing seroprevalence rates of M. pneumoniae after 2 years of age should alert clinicians to consider the organism in the differential diagnosis of infectious diseases in this age group. The low seroprevalence rates in the first 2 years of age was thought to be due to low risk of community-based spread of the organism in this age group. The most prominent increase in seroprevalence was at 10 years of age. This data indicated that M. pneumoniae should be kept in mind while making differential diagnosis of infections. The spreading of disease and community-based transmission is also important to consider. In our study, seroprevalence rates increased at 6 and 7 years of age, at the beginning of the school age as community-based transmission takes place most commonly in crowded circumstances. In conclusion, M. pneumoniae should be thought as an important infectious agent in childhood for all age groups.
Bu çalışmada sepsisin erken tanısında çözünebilen CD14 (sCD14) ve yüksek duyarlı C-reaktif protei... more Bu çalışmada sepsisin erken tanısında çözünebilen CD14 (sCD14) ve yüksek duyarlı C-reaktif protein (hs-CRP) düzeylerinin diğer laboratuvar verileriyle karşılaştırılması amaçlanmıştır. Yöntemler: Yenidoğan Servisi'nde 16'sı erkek, 11'i kız, toplam 27 yenidoğan bebekten alınan kan örneklerinde lökosit sayımı, nefelometrik yöntemlerle CRP ve hs-CRP ölçümleri, ek olarak ELISA yöntemiyle sCD14 ölçümleri gerçekleştirilmiştir. BACTEC 9050 otomatize kan kültürü sistemi aracılığıyla kan kültürleri yapılmıştır. Çalışmaya dahil edilen yenidoğanlarda laboratuvar verileri ve klinik gözlemler kullanılarak Töllner sepsis skorları belirlenmiştir. Çalışma için yerel Etik Kurulu onayı alınmış ve yapılacak uygulamalar hakkında aileler bilgilendirilerek onay alınmıştır. Konjenital anomalisi olan bebekler çalışma dışında tutulmuştur. Bulgular: Bebeklerde en sık görülen semptom %74 (20/27) oranında beslenmenin reddi olmuş, takiben de letarji ve sarılık saptanmıştır. Sepsis ön tanısı almış 13 bebeğin 4'ünde kan kültürü pozitif bulunmuştur. CRP ölçümleri sepsis tanısı almış 13 bebeğin 7'sinde pozitif bulunurken, sepsis ve CRP arasında anlamlı düzeyde istatistiksel ilişki gözlenmiştir. Sepsis tanılı bebeklerin 12'sinde hs-CRP pozitif (p<0.003), 13 bebeğin tamamında sCD14 pozitif (klinikle uyumlu ilişki; p<0.001) bulunmuştur. Uygulanan sCD14, hs-CRP ve CRP testleri için duyarlılık ve özgüllük oranları sırasıyla %100 ve %57, %93 ve %64, %54 ve %100 olarak hesaplanmıştır. Sonuçlar: Yenidoğan sepsisinde klinik özelliklerle sCD14 ve hs-CRP arasında anlamlı bir korelasyon gözlenmiş, bu gözlemle sCD14 ve hs-CRP'nin yenidoğan sepsisinin erken tanısına katkı sağlayacağı kanısına varılmıştır.
Nefroblastomatoz çoğul veya diffüz nefrojenik artıkların ve onların örneklerinin varlığı olarak t... more Nefroblastomatoz çoğul veya diffüz nefrojenik artıkların ve onların örneklerinin varlığı olarak tanımlanmaktadır. Nefroblastomatoz sıklıkla yenidoğanlarda görülür ve multipl bilateral subkapsüler kitlelerle karakterizedir. Biz panlobar nefroblastomatozlu seyrek görülen term yenidoğan bir olguyu sunuyoruz. Bizim incelememiz de olduğu gibi daha önce literatürde panlobar tip nefroblastomatoz ve mesane boynu polip birlikteliği ilişkisi saptanmadı.
An evaluation of growth hormone (GH) testing for GH deficiency (GHD) in childhood is confounded b... more An evaluation of growth hormone (GH) testing for GH deficiency (GHD) in childhood is confounded by the lack of a world-wide consensus on the definition of GHD. Although a single GH test remains the most powerful biochemical tool in the evaluation of a child with growth failure, the test remains far from ideal. Withdrawal of somatostatin (SS) infusion is followed by a rebound rise of GH thought to be mediated by endogenous GH-releasing hormone (GHRH) function. This study was designed to compare the GH response to 90 min SS infusion in children with normal GH secretion versus children with GH deficiency. Ten children with GHD and 10 healthy controls (NC) have been evaluated for GH response to somatostatin infusion withdrawal (SSIW) and compared with response of two provocative tests, glucagon plus propranolol test and L-Dopa test. All children received constant infusion of somatostatin for 90 min (3 microg/kg per h, Stilamin, Serono, Aubonne, Switzerland). In order to determine GH, blood samples were obtained 90 min before the SS infusion and 0, 15, 30, 45, 60, 75, and 90 min after the cessation of infusion. Growth hormone peak levels with SSIW were significantly lower in GH deficient children than in healthy children (2.5 +/- 1.2 ng/dL, vs 21.9 +/- 5.3 ng/dL, respectively, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01). No adverse effects were observed during or after somatostatin infusion. In the present study, SSIW elicited a significant GH rise in healthy children but not in children with GH deficiency. Although further controlled studies using more data are necessary to expand these findings, the results suggested that children with GH deficiency can be reliably discriminated from healthy children by SSIW.
Scabies and pediculosis are ubiquitous, contagious, and debilitating parasitic dermatoses. The te... more Scabies and pediculosis are ubiquitous, contagious, and debilitating parasitic dermatoses. The tendency of high prevalence of pediculosis and scabies among school and preschool age children has prompted us to conduct a head louse and scabies prevalence survey among preschool nursery children in our district. A school-based, crosssectional study was performed, with 1,134 children chosen for evaluation. All cases were evaluated by physical examination and a detailed, structured questionnaire. The infestation was found in 14 (1.2%) of 1,134 children; 9 (0.8%) with pediculosis capitis and 5 (0.4%) with scabies. We found that infestations were more frequent in children with mothers whose education levels were low. This indicates the necessity of an improvement in the economic and sociocultural status of the community and the promotion of hygiene concepts and practices in order to improve health of preschool age children.
The aim of our study was to compare the efficacy of combined interferon-alpha and lamivudine in c... more The aim of our study was to compare the efficacy of combined interferon-alpha and lamivudine in children with chronic hepatitis B infection and two durations of treatment (6 and 12 months). Combination of interferon-alpha 2b (10 MU/m2 of body surface) and lamivudine 4 mg/kg (maximum, 100 mg) were given synchronously to 30 patients for 6 months (Group 1) and to 27 patients for 12 months (Group 2). Biochemical, virologic and serologic features were compared between two groups at the end of therapy and 6 months after therapy. Hepatitis B e antigen clearances were 33 and 59% at the end of treatment and 37 and 56% 6 months after therapy in Groups 1 and 2, respectively (P &gt; 0.05). Hepatitis B virus DNA clearances were 97 and 100% at the end of treatment and 97 and 96% 6 months after therapy in Groups 1 and 2, respectively (P &gt; 0.05). In both groups normalization of alanine aminotransferase was maintained at the end of therapy and 6 months after therapy (P &lt; 0.05). Sustained complete responses were obtained in 20 and 37% of patients at the end of therapy and 6 months after therapy, respectively (P = 0.07). When the combination of large dosage interferon-alpha 2b and lamivudine therapy in children was compared at the end of therapy and 6 months after therapy, normalization of alanine aminotransferase and the clearances of hepatitis B e antigen and hepatitis B surface antigen in both groups were directly proportional to the duration of treatment. However, the higher complete response rate at 12 months of combination therapy was not statistically different from that at 6 months.
Children and adolescents with type I diabetes mellitus (DM) may present with diabetic ketoacidosi... more Children and adolescents with type I diabetes mellitus (DM) may present with diabetic ketoacidosis (DKA), which is associated with significant morbidity and mortality. This study aimed to evaluate the hematological parameters at diagnosis (0th hour) and 96th hour after the initiation of treatment in children with DKA. Twenty-six children with DKA treated in Dicle University Faculty of Medicine between September 2002 and August 2003 were included in this study. General characteristics of the patients and hematological parameters (platelet count, white blood cell count, prothrombin time, partial thromboplastin time (PTT), bleeding time, coagulation time, protein C, protein S, antithrombin III, fibrinogen, D-dimer, factor VIII, factor IX, and factor X levels) at diagnosis (0th hour) and 96th hour after the initiation of treatment were determined. The mean age of the children (10 girls and 16 boys) was 9.15 ± 3.85 years (range: 4-15 years). DKA developed for the first time in 58.3% of these children and they had recently been diagnosed as DM. After hematological parameters at 0th hour were evaluated, increased platelet count, decreased PTT, low protein C, and high factor VIII levels were determined at diagnosis, indicating prothrombotic tendency. If the hematological parameters at 0th hour were compared with those at 96th hour; platelet count decreased, PTT increased, protein C and factor VIII levels turned to be normal at 96th hour. When all the results are considered together, children with DKA appeared to have a prothrombotic tendency. Although this tendency was not reflected in clinical findings in this study, it should be kept in mind that children with DKA are prone to the development of thrombosis and they need to be investigated for the possibility of thrombosis.
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