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ABSTRACT: DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously recognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties.
Journal of Clinical Research in Pediatric Endocrinology 06/2011; 3(2):95-7.
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ABSTRACT: Catheter related infections are reported as one of the most common source of nosocomial infections. Rhizobium radibacter infections are generally manifested by fever and leukocytosis. Here, a 14 months-old girl diagnosed as T (-) B (-) NK (+) severe combined immunodeficiency (SCID) is presented. She had received repeated (x3) unconditioned haploidentical hematopoetic stem cell transplantations. During the follow-up, she has been arised an asymptomatic infection with R. Radiobacter, which was isolated from central venous catheter and peripheral blood while she was clinically stable, free of symptoms, fever or leukocytosis. She was treated successfully with cefepime and amikacin and did not require catheter removal. So, it is once more clear that the blood cultures should be obtained on regular basis from all patients with an intravascular device, even they were asymptomatic.
The Journal of Infection in Developing Countries 08/2010; 4(8):530-2. · 1.19 Impact Factor
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ABSTRACT: HC is a common complication following HSCT. Risk factors include viral infections, cyclophosphamide and busulfan usage, pelvic irradiation, older age at transplantation, allogeneic HSCT and GvHD. The severity of HC ranges from mild hematuria to life-threatening bleeding. Here, we present a seven-and-a-half-yr-old boy with Wiskott-Aldrich syndrome who experienced a late onset Grade III hemorrhagic cystitis following HSCT from his fully matched sibling. A Grade I GvHD localized to skin developed on day +11 and prednisolone therapy was given between the 11th and 22nd d. Myeloid and platelet engraftments were achieved +13 and +16 d, respectively. A gross hematuria began on the 21st post-transplant day. The urine cultures for bacterial or fungal organisms were negative. Urine analysis by PCR revealed a CMV viruria. Following systemic ganciclovir treatment, urinary CMV became negative but hemorrhagic cystitis did not improve. Due to the probability of existing BK virus or adenovirus, two doses of cidofovir were administered intravesically. As he continued to have painful hematuria with large clot formations, two doses of intravesical hyaluronic acid were applied. Macroscopic hematuria resolved within four d after the second dose. Complete remission was achieved on day +77. Finally, intravesical administration of hyaluronic acid seems to be effective and safe and can be a promising treatment in patients suffering from severe and late onset HC.
Pediatric Transplantation 05/2009; 14(6):E79-82. · 1.48 Impact Factor
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ABSTRACT: TGF-Beta1 is a pro and antiinflammatory cytokine and plays an important role in airway remodelling in asthma. TNF-alpha is a proinflammatory cytokine that involved in the pathogenesis of asthma. Cytokine production is under genetic control, and certain single nucleotide polymorphisms (SNPs), which lead to allelic variants of cytokine genes are associated with higher or lower cytokine production in vitro. In some studies TGF-Beta1-915G/C and TNF-alpha-308G/A polymorphisms are found to be more prevalent and associated with asthma. The aim of this study is to investigate the frequency of TGF-Beta1-915G/C and TNF-alpha-308G/A polymorphisms and to determine whether or not these polymorphisms are associated with the development of asthma in children. 46 asthmatic children and 67 healthy controls were investigated by LightCycler PCR analysis for TGF-Beta1-915G/C and TNF-alpha-308G/A polymorphisms. The frequency of TGF-Beta1-915G/C and TNF-alpha-308G/A polymorphisms in asthmatic children were 15.2% and 23.9% respectively while the corresponding figures were 8.9% and 23.8% in the control group (p> 0.05). The risk of asthma development was not associated for TGF-Beta1 915G/C (OR: 0.54, 95% CI: 0.17-1.75) and TNF-alpha-308G/A (OR: 0.99, 95% CI: 0.41-2.40) polymorphisms. These results indicated that, the frequency of TGF-Beta1 915G/C and TNF-alpha-308G/A polymorphisms did not show any difference in asthmatic children compared to healthy controls and these polymorphisms do not seem to influence suspectibilty to asthma.
Tuberkuloz ve toraks 01/2009; 57(1):62-7.
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ABSTRACT: We describe two siblings (a male patient and his older sister) with a novel mutation in the peptide transporter associated to antigen processing (TAP). The index case presented with not only granulomatous skin lesions and recurrent sino-pulmonary infections, often associated with this deficiency, but also a severe pulmonary toxoplasmosis. His toxoplasmosis and skin lesions were successfully treated.
Parasitology International 10/2006; 55(3):219-22. · 2.13 Impact Factor
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ABSTRACT: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by thrombocytopenia, eczema, impaired cellular and humoral immunity, and increased susceptibility to malignancy and autoimmunity. The only curative treatment for WAS is hematopoietic stem cell transplantation, especially in the presence of a matched sibling donor or matched unrelated donor. Here, we report the case of a 2.5-yr-old boy with WAS that resulted in mixed chimerism after having received bone marrow from his phenotypically identical grandfather. Although the patient has persistent thrombocytopenia (platelet counts 50-80 x 10(9)/L), he is currently alive and doing well at 36 months post-transplant and is free of any bleeding episodes.
Pediatric Transplantation 06/2006; 10(3):395-9. · 1.48 Impact Factor
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ABSTRACT: Tonsils and adenoids are lymphoid tissues that are located in the pharynx and play an important role against invading antigens of the upper respiratory tract. The present study analyses serum immunoglobulin levels and peripheral blood (PB) lymphocyte subsets in children, 24-48 h prior to and 4-6 weeks after adenotonsillectomy, in order to determine early effects of adenotonsillectomy on the immune system.
The study population consists of 15 children (aged 4-10 years) who underwent adenotonsillectomy because of adenoidal hypertrophy and chronic tonsillitis and 15 age-matched healthy children without a history of adenotonsillectomy. Serum IgG, IgA and IgM levels were measured by nephelometry. PB lymphocyte subsets were analysed by using monoclonal antibodies and flow cytometry.
Children with chronic tonsillitis have increased levels of CD19+ B lymphocytes compared to healthy controls in the pre-operative period. The percentage of B lymphocytes bearing CD23 was found to be significantly higher in patients, most likely representing in vivo B lymphocyte activation due to chronic antigenic stimulation. After the adenotonsillectomy, despite ongoing B lymphocyte activation, CD8+ T lymphocyte levels increased and B cell levels returned to normal. A slight decrease in serum IgG, IgA and IgM levels was detected in the post-operative period compared to prior levels.
Adenotonsillectomy performed in children leads to alterations that may reflect a compensatory response of the developing immune system after the removal of the lymphoid tissue in the setting of chronic antigenic stimulation. However, these changes do not cause significant immune deficiency.
International Journal of Pediatric Otorhinolaryngology 01/2003; 66(3):251-7. · 1.17 Impact Factor
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ABSTRACT: The present study aims at comparing the levels of circulating forms of E-selectin, ICAM-1 and VCAM-1 in 10 patients with acute asthma, 10 stable atopic asthmatics, 10 nonatopic stable asthmatics and 10 age-matched healthy children. sE-selectin levels of patients with acute asthma were found to be significantly higher than that of the other three groups. The insignificant rise in sICAM-1 levels was attributed to the usage of inhaler corticosteroids. Serum sE-selectin and sICAM-1 seem to be promising serological markers for monitoring disease activity in childhood asthma.
Indian pediatrics 12/2002; 39(11):1017-21. · 1.05 Impact Factor
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ABSTRACT: Tansient hypogammaglobulinemia of infancy (THI) is characterized by an abnormal delay in the onset of immunoglobulin synthesis. In the present study, clinical and immunological data and outcome of 30 patients with THI are presented. Between 1995-2001, 464 patients with frequent upper and lower airway infections admitted to the Pediatric Immunology and Allergy outpatient clinic; 30 of them (aged between 6-46 months) were diagnosed as THI. Patients had periodic evaluations at 3-6 month intervals until their condition had improved clinically and immunoglobulins had normalized. In 21 patients immunoglobulin levels reached normal age-matched levels at a median age of 27 months. In nine patients (aged 25-57 months) immunoglobulin levels were still under 2SD for age and various IgG subclass deficiencies were detected in five of them. The results of the present study indicated that THI is not a rare disease. Long-term follow-up with detailed clinical and laboratory evaluations is needed in these patients.
The Turkish journal of pediatrics 46(2):120-4. · 0.44 Impact Factor
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ABSTRACT: Immunophenotyping of peripheral blood lymphocyte subpopulations is essential for the diagnosis and follow-up of children with immunodeficiencies and other immune disorders. The relative size and absolute number distributions (median and 5-95%) of lymphocyte subsets, including cord blood (Coulter, EPICS-XL) were examined by flow cytometry in 190 healthy subjects from birth to 18 years of age with a view to obtaining normal reference values for Turkish children of the following age groups: cord blood (n:29), birth to 1 year (n:41), 1 to 2 years (n:30), 2 to 6 years (n:30), 6 to 10 years (n:30), and 10 to 18 years (n:30). The relative size of CD2+, CD3+CD16-56-, CD3+CD8+ T lymphocytes increased while the relative size and absolute counts of those together with CD3+CD4+ and CD19+, CD20+ B lymphocytes decreased with age. The percentage of CD3-CD16+56+ NK cells increased from 0-1 year to 10-18 years; however, absolute count of CD3-CD16+56+ NK cells remained stable and unchanged in all age groups. The relative size and absolute count of activation markers (CD3+CD25+ and HLADR+) decreased from 0-1 year through 10-18 years age group. This study has once more demonstrated that both the percentage and the absolute number of lymphocyte subsets in cord blood and peripheral blood of healthy infants and children changed with age. Therefore, comparison of results to those of age-matched healthy controls is of utmost importance in the reliable and accurate evaluation of lymphocyte subsets reflecting cellular immunity in children.
The Turkish journal of pediatrics 46(2):125-30. · 0.44 Impact Factor
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ABSTRACT: It is a common and well-known fact that infants and preschool children undergo frequent episodes of upper respiratory tract infections. The majority of these children do not have a recognized immunodeficiency. The aim of the present study was to evaluate the effects of frequent upper respiratory tract infections on cellular immunity, using peripheral blood lymphocyte subsets and activation markers as defining parameters. The study group consisted of 16 children (aged 2-6 years) with frequent upper respiratory tract infections; 30 age-matched healthy children served as controls. Peripheral blood T, B, NK cells; T lymphocyte subsets; naive and memory cells; and activation markers were analyzed by using monoclonal antibodies and flow cytometry. White blood cell count (WBC) was found to be markedly increased in the study group compared to controls (p < 0.05). The absolute number of lymphocytes was also higher than that of the healthy children. The relative size of the CD3+CD8+ T lymphocytes and the relative and absolute numbers of CD3-CD16+56+ NK cells were found to be higher in patients than the controls. All the remaining percentages and numbers of the T cell subgroups including naive and memory cells and B lymphocytes did not show any difference, while CD3+CD25+ cell numbers were markedly increased (p < 0.05). In conclusion, the examination of peripheral blood lymphocyte subsets in children with frequent upper respiratory tract infections is important in evaluating cellular immune alterations due to antigenic stimulation; however, it is neither essential nor cost-effective in the management of the disease. This study has shown that both the percentage and absolute numbers of peripheral blood lymphocyte subsets maintain their normal status in children with frequent upper respiratory tract infections.
The Turkish journal of pediatrics 50(1):63-6. · 0.44 Impact Factor
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ABSTRACT: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However, the identification of the WASP gene has made possible a definite WAS diagnosis for these cases. In this report, we present a 26-month-old boy who had received several ineffective treatments for chronic immune thrombocytopenic purpura. He was then suspected to have WAS because of the early onset of thrombocytopenia and small platelets. The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis.
The Turkish journal of pediatrics 48(1):66-8. · 0.44 Impact Factor
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ABSTRACT: Natural regulatory T (nTreg) cells are described by expression of a specific transcription factor, FOXP3, on CD4+CD25+ cells. They play very important roles in the suppression of allergic reactions and disorders. The aim of this study was to obtain peripheral blood Treg levels among atopic asthmatic patients before and during inhaled steroid treatment and to observe the effect of these cells on the pathogenesis and treatment of asthma. CD4+CD25+FOXP3+ T cells obtained from 20 healthy donors and from 16 atopic asthmatic patients before and after inhaled glucocorticoid treatment were examined by flow cytometer. The levels of CD4+CD25+ FOXP3+ Treg cells were higher in asthmatic children who had been receiving inhaled glucocorticoids, when compared to the control group and to the patients' levels before treatment (p<0.05). The present study suggests that at least one of the anti-inflammatory effects of inhaled glucocorticoids in asthma depends upon induction of Treg cells.
The Turkish journal of pediatrics 53(5):532-6. · 0.44 Impact Factor
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Zümrüt Uysal, Figen Doğu,
A Emin Kürekçi,
Vildan Koşan Culha,
Gülhis Deda,
Mesiha Ekim,
Nejat Akar,
Mehmet Erterm,
Aydan Ikincioğullari,
Emel Babacan,
Sevgi Gözdaşoğlu
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ABSTRACT: Antiphospholipid antibody syndrome (APS) is characterized by the association of recurrent arterial or venous thrombosis or recurrent fetal wastage and the presence of circulating antiphospholipid antibodies, detected as anticardiolipin antibodies or lupus anticoagulant. The authors report an 8-year-old girl, who presented with central retinal artery occlusion and live do reticularis and was diagnosed as APS. Despite the proper anticoagulant treatment she had several cerebral ischemic events and died 29 months after the diagnosis. A larger number of pediatric case investigations will be required for better understanding and treating this rare thrombotic disorder.
Pediatric Hematology and Oncology 19(1):59-66. · 0.89 Impact Factor
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Nurşen Belet,
Ergin Ciftçi,
Derya Aysev,
Haluk Güriz,
Zümrüt Uysal,
Nurdan Taçyildiz,
Begüm Atasay, Figen Doğu,
Tanil Kendirli,
Zarife Kuloğlu,
Erdal Ince,
Ulker Doğru
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ABSTRACT: The aims of the study were to examine the distribution of Candida spp. isolated from sterile body sites, the antifungal susceptibility of the isolates to amphotericin B, fluconazole, voriconazole, and caspofungin, and factors affecting mortality with invasive Candida infections in children. Thirty-five children with invasive candidiasis between January 2004 and January 2008 were evaluated retrospectively. The antifungal susceptibility of isolated Candida species was studied by Etest. Of the invasive Candida infections, 65.7% were due to C. albicans. The second most common isolated species was C. parapsilosis (11.4%). The rates of resistance to fluconazole, amphotericin B and voriconazole were 8.5%, 2.8% and 5.7%, respectively. Caspofungin was the most effective antifungal agent. 22.8% of the patients died in the first 30 days. In univariate analyses, increased mortality was associated with stay in the intensive care unit, the presence of central venous catheter (CVC), failure to remove CVC, and mechanical ventilation.
The Turkish journal of pediatrics 53(5):489-98. · 0.44 Impact Factor
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ABSTRACT: Central venous catheter (CVC) fracture with embolization is a serious and rare complication, and few cases have been reported in children. Catheter fragments may cause cardiac perforation, arrythmias, pulmonary embolism, and sepsis. We report the successful retrieval of intracardiac CVC fragments by percutaneous transcatheter technique in two infants, aged 8 and 15 months. Double-lumen 7 French Hickman CVCs were accidentally fractured during their removal. Chest radiographs of the two patients revealed migrated intracardiac catheter fragments extending from the superior vena cava (SVC) to the right atrium and from the SVC to the right ventricle, respectively. The procedure was performed under ketamine anesthesia and fluoroscopic guidance using a percutaneous femoral vein approach. Nitinol Amplatz Goose Neck snares (10 mm in diameter) were used to successfully retrieve the catheter fragments without any complication. Percutaneous transcatheter retrieval of catheter fragments using Goose Neck snare is a safe and successful technique and can be chosen before resorting to surgery, which has potential risks related to general anesthesia, thoracotomy and cardiopulmonary bypass.
The Turkish journal of pediatrics 51(5):519-23. · 0.44 Impact Factor
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ABSTRACT: Primary immunodeficiencies (PIDs) are a relatively common occurrence in countries where consanguineous marriages are widespread. A principal factor leading to misdiagnosis and ensuing complications can be the lack of knowledge and proper evaluation. The aim of this study was to assess PID awareness and the identification of diagnostic criteria leading to correct diagnosis. Seven hundred eighty-six questionnaires with 71 items were distributed to physicians attending the 41st National Congress of Pediatrics (2005) and to pediatric residents of two university hospitals from different cities in Turkey. The 217 completed questionnaires revealed that family history (91.2%), consanguineous marriages (87.1%), infant deaths (70.0%), persistent thrush (90.3%), hospitalization for recurrent cellulitis (70.5%), chronic diarrhea due to giardiasis (62.2%), recurrent oral aphthous lesions (58.5%), telangiectasia (82.0%), failure to thrive (78.8%), absence of tonsil tissue (74.7%), oculocutaneous albinism (73.7%), and resistant sinusitis (71.0%) were cited among important indicators of PID. However, neonatal tetany (77.9%), liver abscess (61.3%) and poliomyelitis following oral polio vaccination (51.2%) were not considered as related to PID. Although white blood cell (WBC) and differential were chosen as the preferred initial tests, leukocytosis and lymphopenia were also not judged as related to PID. More comprehensive pre/postgraduate education in PID appears to be necessary for physicians in Turkey.
The Turkish journal of pediatrics 52(4):372-7. · 0.44 Impact Factor
