Cengiz Zeybek

Effect of iron therapy on the whole blood platelet aggregation in infants with iron deficiency anemia.

This study was performed to investigate the platelet aggregation alterations in whole blood samples of infants with iron deficiency anemia. Platelet aggregation induced by various concentrations of adenosine diphosphate (ADP) and collagen was studied with impedance aggregometry in 25 patients before and after oral iron therapy and in 12 children of the control group. The posttreatment mean maximum aggregation values were significantly higher (p<0.01) and the posttreatment mean aggregation times were significantly lower (p<0.01) in the study group at all concentrations of ADP and collagen. The aggregation time and maximum aggregation values revealed no significant difference except for the maximum aggregation value at 5 microM ADP (p<0.05) between the study group after therapy and the control group. The differences between the pretreatment and posttreatment mean platelet counts and mean platelet volume values in the study group were statistically significant (p<0.01), whereas those values in the study group after therapy and in the control group were not significantly different. We conclude that iron deficiency anemia in infants, even without clinically meaningful platelet abnormality, may cause dysfunction of the ex vivo whole blood platelet aggregation, and can be reversed by iron therapy. Further studies should be carried out at the enzymatic level to determine whether this platelet aggregation dysfunction in iron deficiency anemia is due to a deficiency in the activation of iron-containing enzymes.

A New Mutation in Blau Syndrome

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.

İdrar interlökin-13, CD80, CD28, matriks metaloproteinaz-2 ve granzim B‘nin çocukluk çağı minimal değişim nefrotik sendrom patogenezindeki rolleri

Objective: Minimal change disease (MCD) is the most common cause of nephrotic syndrome in childhood but its pathogenesis remains poorly understood. A T-cell-derived factor or factors were initially alleged as contributing to the disease pathogenesis. However, podocyte CD80 expression is now a commonly discussed theory. The aim of this study was to investigate the pathogenesis of MCD by determining urine interleukin-13, CD80, CD28, matrix metalloproteinase-2 (MMP-2), and granzyme B levels. Methods: Thirty patients and thirty healthy children were evaluated in this study. Six patients had biopsy proven MCD. The remaining patients were considered to have MCD because of their age at time of diagnosis; response to steroid treatment, absence of gross hematuria, hypocomplementemia or renal failure; and normal blood pressures in the active stage. The nephrotic-phase urine interleukin-13, CD80, CD28, MMP-2, and granzyme B levels of all patients were compared with the remission-stage urine levels of the same patients and control subjects. The urine samples were collected immediately before the application of immunosuppressive drugs or other treatment modalities. Results: Significantly higher interleukin-13, CD80, CD28, and MMP-2 levels were observed in the relapse period compared with both the remission period and control subjects. There was a significant positive correlation between the active-stage urine interleukin-13 and CD80 levels (r=0.619, p<0.001). Conclusion: Interleukin-13, CD80, CD28, and MMP-2 seem to have roles in the pathogenesis of MCD and using inhibitors of these molecules in treatment of steroid and immunosuppressive-resistant MCD cases can be thought. J Clin Exp Invest 2014; 5 (3): 354-361

Unusual Fibrillary Glomerulonephritis in a 19-Month-Old Male Patient: A Case Report and Review of the Literature

1 Health Sciences University, Gülhane Education and Research Hospital, Department of Pediatric Nephrology, Ankara, Turkey 2 Health Sciences University, Gülhane Education and Research Hospital, Department of Pediatrics, Ankara, Turkey 3 Ministry of Health, Gülhane Education and Research Hospital, Department of Pediatric Nephrology, Ankara, Turkey 4 Health Sciences University, Gülhane Education and Research Hospital, Department of Pathology, Ankara, Turkey 5 Yeniyüzyıl University Faculty of Medicine, Department of Pathology, İstanbul, Turkey doi: 10.5262/tndt.2017.1003.16

Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.

Effects of Recombinant Granulocyte Colony-Stimulating Factor and Granulocyte-Macrophage Colony-Stimulating Factor on Platelet Aggregation in Healthy Volunteers

ABS TRACT Objective: Recombinant human granulocyte colony-stimulating factor (G-CSF) is increasingly used for stem cell mobilization in healthy donors for allogeneic stem cell transplantation. However, a possible association between thrombosis and G-CSF administration has been reported. This study was performed to investigate the in vitro effects of G-CSF and granulocyte-macrophagecolony-stimulating factor (GM-CSF) on platelet aggregation in healthy volunteers. Material and Methods: Platelet aggregation was induced by adenosinediphosphate (ADP) and collagen in platelet rich plasma (PRP) and whole blood (WB) samples from 26 healthy volunteers (20 volunteers for G-CSF, and 6 volunteers for GM-CSF study). Three concentrations of G-CSF solution (10, 50 and 100 ng/mL) and GM-CSF (5, 10 and 20 ng/mL) were prepared. Each concentration of G-CSF and GM-CSF solutions and the control diluent were incubated with PRP and WB samples. After incubation, aggregation responses were evaluated with ADP (1 μM and 5 μM) and collagen (1 μg/mL) in PRP and WB samples. Results: We found that G-CSF increased ADP and collagen induced platelet aggregation in PRP and ADP induced platelet aggregation rate in WB. GM-CSF didn’t affect ADP and collagen induced platelet aggregation rate in whole blood and platelet-rich plasma in vitro. Conclusion: This study showed that G-CSF administration may lead to platelet hyperaggregability. The enhancing effect of G-CSF on platelet aggregation should be taken into consideration in clinical usage.

Elevated Urinary T Helper 1 Chemokine Levels in Newly Diagnosed Hypertensive Obese Children.

Objective: Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity and anti-hypertensive treatment on urinary Th1 chemokines. Methods: The study groups consisted of three types of patients: hypertensive obese, healthy, and non-hypertensive obese. Pre-treatment and post-treatment samples of the hypertensive obese group and one sample from the other two groups were evaluated for urinary chemokine: regulated on activation, normal T cell expressed and secreted (RANTES), interferon-gamma-inducible protein 10 (IP10), and monokine induced by interferon-gamma (MIG). In the hypertensive obese group, urine microalbumin: creatinine ratio was examined before and after treatment. We recommended lifestyle changes to all patients. Captopril was started in those who could not be controlled with lifestyle changes and those who had stage 2 hypertension. Results: Twenty-four hypertensive obese (mean age 13.1), 27 healthy (mean age 11.2) and 22 non-hypertensive obese (mean age 11.5) children were investigated. The pre-treatment urine albumin: creatinine ratio was positively correlated with pre-treatment MIG levels (r=0.41, p<0.05). RANTES was significantly higher in the pre-treatment hypertensive and non-hypertensive obese group than in the controls. The urinary IP10 and MIG levels were higher in the pre-treatment hypertensive obese group than in the non-hypertensive obese. Comparison of the pre- and post-treatment values indicated significant decreases in RANTES, IP10, and MIG levels in the hypertensive obese group (p<0.05). Conclusion: Th1 cells could be activated in obese hypertensive children before the onset of clinical indicators of target organ damage. Urinary RANTES seemed to be affected by both hypertension and obesity, and urinary IP10 and MIG seemed to be affected predominantly by hypertension.

A new mutation in blau syndrome: case report.

Blau syndrome is a rare autoinflamattory granulomatous disease and inherited as autosomal dominant.The classical triad of Blau syndrome is granulomatous dermatitis, symmetric arthritis and recurrent uveitis. However, all of these findings may not be together in the patients. In the majority of patients, the disease is characterized by early onset that usually before 3-4 years of age. The ocular findings of Blau syndrome ocur usuaaly after the articular and skin findings.

The Relationship between Blood Pressure and Sleep Quality among Obese Adolescents Patients

Objective: To clarify the relation between blood pressure and sleep quality in obese adolescents. Methods: The study was designed and performed as descriptive study. Sleep quality questionnaire, 24hr ambulatory systemic blood pressure monitoring and anthropometric measurements were performed in both study and control groups (age range 10-18, n=22). Demographic data, Pittsburgh Sleep Quality Index and blood pressure measurements were compared. Results: No statistically meaningful association between blood pressure and sleep quality was found. Obese patients (n=30) had been found to have difficulty breathing in their sleep (p=0.001). There were no statistical differences between the obese and non-obese groups with their means of Pittsburg Sleep Quality Index (p=0.059). Conclusions: On contrary to other studies we found that sleep quality does not affect blood pressure in obese adolescents. We concluded that obese adolescents have trouble breathing in their sleep.

PLEUROPULMONARY BLASTOMA IN A CHILD

distinct intrathoracic neoplasm that exclusively affects children.1–4 The pleuropulmonary blastoma of children, described by Manivel et al. in 1988,3 differs from the pulmonary blastoma of adults by variability in anatomic location, primitive embryonic-like blastoma and stroma, absence of a carcinomatous component and propensity for sarcomatous differentiation.3–5 It has been reported in children of all ages, but 25% of the more than 50 reported cases have occurred in children less than 15 years of age.4–6 The tumor is composed of a mixture of immature embryonal-like epithelial and mesenchymal cells in varying amounts and degrees of differentiation and maturation.7 Although radiation therapy and chemotherapy have been employed in the treatment of PPB, it has been treated most commonly by surgery alone and, despite the use of multimodal therapy, PPB still has a poor prognosis.4 We present a case of PPB and review of the literature regarding its clinical presentation, pathology, management and prognosis.