Yasemin Altuner Torun

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature

Abstract: Thiamine‐responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, sensorineural deafness and diabetes mellitus. In this disease, the active thiamine uptake into cells is disturbed. Treatment with pharmacological doses of thiamine ameliorates the megaloblastic anemia and diabetes mellitus. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high‐affinity thiamine transporter. We present a 5‐yr‐old‐boy with TRMA and, because of its rarity, we review the literature.

Management of Hyperleukocytosis and Prevention of Tumor Lysis Syndrome with Low-Dose Prednisone Continuous Infusion in Children with Acute Lymphoblastic Leukemia

Introduction: The standard management of childhood acute lymphoblastic leukemia with hyperleukocytosis is unclear and its treatment has focused on prompt leukocytoreduction. Cytoreductive therapies have been used for the prevention of tumor lysis syndrome, but the outcomes have been variable and their benefits have not been proven in controlled clinical trials. This condition needs further investigation to develop effective therapeutic strategies. Methods: In the present prospective trial, 15 children with acute lymphoblastic leukemia and hyperleukocytosis (range 101–838 × 109/l) were treated with intravenous low-dose prednisone continuous infusion (6 mg/m2/24 h). Doses were increased daily and on approximately the fifth day, the full dose of prednisone (60 mg/m2/day) was applied. Results: The mean reduction in white blood cell count achieved by this treatment was 34.4% on first day, 56.9% on second day and 76.6% on third day. The treatment was well tolerated. None of the 15 patients developed life-threatening metabolic disorders or required dialysis. Conclusions: Intravenous low-dose prednisone continuous infusion treatment can prevent the progression to tumor lysis syndrome and it may be used for the patients presenting with white blood cell counts between 100 and 400 × 109/l in centers where leukoapheresis is not readily available.

Primary gangrenous cutaneous mucormycosis of the scalp in a child: a case report.

Primary cutaneous mucormycosis (MM) is a rare fungal infection of childhood and is most often encountered in immunocompromised patients. It is a potentially lethal opportunistic fungal infection with rapid progression and high mortality. A report of cutaneous MM involving the head region is very rare. We herein report a case of primary cutaneous MM in a malnourished patient. The infection progressed rapidly, and the infant died from infection. The diagnosis was made at postmortem examination. Early diagnosis and surgery should be undertaken to prevent fatal outcome, and complete study of the etiologic agent must be carried out in all cases.

Reduction in mean platelet volume in children with acute bronchiolitis.

AIM Platelets which are known to play a role in inflamation change their shapes when they are activated and this change is reflected in mean platelet volume and platelet distribution width values. Therefore, the mean platelet volume and platelet distribution width values are considered to be beneficial parameters for the diagnosis and treatment of many inflammatory diseases. The aim of the study was to evaluate platelet volume indices in children with acute bronchiolitis. MATERIAL AND METHODS A total of 514 infants who were below the age of 2 years old were evaluated in this study. Three hundred thirteen of these infants were diagnosed with acute bronchiolitis patients and 201 were healthy children. The patients were separated into four groups as mild, moderate, severe bronchiolitis and the control patient group. The groups were evaluated in terms of significant differences in the values of mean platelet volume and platelet distribution width. A p value of <0.05 was considered statistically significant for all results. RESULTS The mean platelet volume was found to be 6.8±0.6 fL in the patients with mild bronchiolitis attack, 6.7±0.6 fL in the patients with moderate bronchiolitis attack, 6.5±0.5 fL in the patients with severe bronchiolitis attack and 7.3±1.1 fL in the control group. The mean platalet volume was statistically significantly lower in the mild, moderate and severe bronchiolitis attack groups compared to the control group (p=0.000). The platelet distribution width was found to be 17.2%±0.83 in the mild bronchiolitis attack group, 17.1%±0.96 in the moderate bronchiolitis attack group, 17.3%±0.87 in the severe bronchiolitis attack group and 16.9±1.6% in the control patient group. This difference was not statistically significant (p=0.159). The platelet count was statistically significantly higher in the mild, moderate and severe bronchiolitis attack groups compared to the control group (p=0.000). CONCLUSIONS The mean platalet volume is decreased in patients with acute bronchiolitis. It is not a useful criterion in determining the severity of bronchiolitis attack. It is important that clinicians evaluating hemogram results to also interprete this variable.

Erythropoietin improves brain development in short-term hypoxia in rat embryo cultures

BACKGROUND Hypoxic ischemic encephalopathy continues to be a significant cause of death and disability worldwide. Erythropoietin (EPO) has the potential to lessen neurologic sequelae due to hypoxia-ischemia. METHODS The in vitro effects of EPO on total embryonic development and brain VEGF receptor (VEGFR) expressions were investigated in 50 rat embryos at 9.5 days of gestation that were cultured in whole rat serum (WRS). According to the study protocol, the embryos were divided into two groups. The first group is comprised hypoxia, 100 and 50 U/ml EPO after hypoxia groups. Group 2 comprised control (WRS) and WRS+EPO. After 48-h culture, the embryos from each group were harvested to be analyzed according to a morphological scoring system and also genetically to measure brain VEGFR expression. RESULTS The mean morphological scores for the embryos grown in control, WRS+EPO, hypoxia, and in the presence of 100 and 50 U/ml EPO in hypoxic medium were 55.30±7.22, 52.10±5.27, 23.0±4.60, 36.20±5.07, and 19.70±5.07, respectively. Expressions of VEGFR-1, -2, -3 were significantly elevated in the 100U/ml EPO and WRS+EPO groups compared to the hypoxia group (p<0.05). CONCLUSIONS These results support the conclusion that (1) VEGFR-1, -2, -3 may increase with EPO treatment in hypoxic conditions, (2) VEGF and EPO may be part of a self-regulated physiological protection mechanism to prevent neuronal injury including in utero neural tube defects.

Mesenchymal stem cell transplantation may provide a new therapy for ultrafiltration failure in chronic peritoneal dialysis

BACKGROUND The purpose of this study was to investigate possible healing effects of intraperitoneal (IP) mesenchymal stem cell (MSC) transplantation on ultrafiltration failure (UFF) in a chronic rat model of peritoneal dialysis (PD). METHODS Rats were initially divided into two groups. The APUF group received once-daily IP injections of 20 mL of 3.86% glucose PD solution for 6 weeks to stimulate the development of UFF and a control group received noinjections. The PUF group was sub-divided into three groups: a PUF-C group, an MSC group and a Placebo (P) group. Peritoneal equilibration tests (PETs) and peritoneal biopsies were performed in the control and PUF-C groups. MSCs were administered by IP injection in the MSC group and the PUF-C and P groups received IP injection of placebo. PETs and peritoneal biopsies were performed in the MSC and P groups at the first [P-1 (and MSC-1 groups] and second [P-2 and MSC-2 groups] week after receiving MSCs or placebo. RESULTS When compared with the control group, ultrafiltration capacity significantly decreased and the submesothelial thickness increased in the PUF-C and P groups (P-1, P-2) (P < 0.05), but there were no differences between the control and MSC groups (MSC-1, MSC-2). The rate of glucose transport was high in the PUF-C and P-2 groups compared with the control group, and D/PCr rates in the PUF-C and P-2 groups were lower than in the control group (P < 0.05). However, D/D0(glucose) was higher and D/P(Cr)was lower in the MSC-2 group than in the PUF-C and P-2 groups (P < 0.05). Transforming growth factor-β (TGF-β) levels were lower in the MSC groups than in the P and PUF-C groups (P < 0.05). CONCLUSION The PUF-C group had a high permeability UFF. These results showed that MSC transplantation exerted positive effects on UFF in a chronic rat model of PD. MSC transplantation may provide new options for the renewal of the peritoneum in chronic PD patients with UFF.

Modulation of Inflammation by Mesenchymal Stem Cell Transplantation in Peritoneal Dialysis in Rats

Aim: The purpose of this study was to determine the effect of mesenchymal stem cell (MSC) transplantation on the peritoneal morphology and inflammation markers in rat models of peritoneal dialysis (PD). Materials and methods: Wistar albino rats were divided into two groups: control (C) (n = 8) and experimental groups (n = 50). PD solution was given to the experimental group during 6 weeks. Then, experimental group was divided into three groups as PD, MSC, and placebo (P) groups. MSC group was treated with MSC (1.5 × 106 cells/kg) and P group was treated with phosphate buffer solution via intraperitoneal injection. Evaluation was performed to C and PD groups at the end of 6 weeks and to MSC and P groups at second and third week of the treatment (MSC-2, P-2, MSC-3, and P-3 groups). Results: The submesothelial area was significantly thickened in PD and P groups compared to C and MSC groups. Peritoneal fibrosis was seen in P-3 group but not in MSC group. There were no significant differences between the MSC-3 and C groups according to morphological findings. Levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) were significantly increased in MSC-2 group compared to the other groups (p-values ranged from 0.0001 to 0.04). TNF-α and IL-6 levels in MSC-3 and P-3 groups were lower than PD and C groups (p < 0.0001 for TNF-α and p = 0.0001–0.002 for IL-6). Conclusion: Giving MSC may protect the peritoneal membrane from the deleterious effect of PD and extend the life of the peritoneal membrane. Our study is the first on this issue and more detailed studies are needed.

Diagnostic role of mean platelet volume and neutrophil to lymphocyte ratio in childhood brucellosis

Background/Aims Brucellosis patients present various non-specific clinical symptoms, such as fever, fatigue, sweating, joint pain, arthritis, myalgia, and headache. Based on the nonspecifity of its clinical signs and symtoms, we decided to evaluate whether mean platelet volume (MPV) , neutrophil to lymphocyte ratio (NLR), and platelet to lymphocyte ratio (PLR) will contribute to the diagnosis. Methods In this retrospective study, we reviewed hospital-records of 60 children with a confirmed diagnosis of brucellosis in Kayseri between January 2013 and January 2016, and compared the hematological parameters; white blood cell (WBC) count, hemoglobin (Hb), neutrophil count, lymphocyte count, platelet count, MPV, NLR, and PLR with 55 healthy age and gender matched children. Also, the well known inf lammation markers; erytrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were compared between the patient and control group. Results We found significant difference among the Hb, platelet count, MPV and NLR values between the patient and control group (p < 0.05). There was no difference between WBC, neutrophil count, lymphocyte count and PLR between the patient and control group (p > 0.05). When the patients were divided into groups as arthritis positive and arthritis negative and compared to the control group; we found that the NLR is more significant in between the arthritis positive and control group (p = 0.013). Also, we found significant difference among the ESR and CRP values between the patient and control group (p < 0.001). Conclusions The results of this study indicates that MPV and NLR values can be used as markers of inflammation in childhood brucellosis. Also, NLR is more valuable in children with brucella arthritis.

Comparing the Efficacy of 7%, 3% and 0.9% Saline in Moderate to Severe Bronchiolitis in Infants

BACKGROUND There is no standard treatment option in acute bronchiolitis. 3-7% hypertonic saline (HS) seems to be the effective treatment choice for reducing the hospitalization day. AIMS To compare the effect of nebulized 7% HS/salbutamol and 3% HS/salbutamol to 0.9% saline/salbutamol. The primary outcome measure was the effect of study drugs on the length of hospital stay (LOS). Secondary outcome measures were safety and efficacy in reducing the clinical severity score (CSS) at the 24 hours of the study. STUDY DESIGN Prospective, double-blinded randomized clinical study. METHODS The study consists of 104 infants. Groups were constituted according to the treatment they received: These are, group A - 0.9% saline/salbutamol, group B -3% HS/salbutamol and group C-7% HS/salbutamol. Heart beat, Bronchiolitis CSS and oxygen saturation of the patients were determined before and after nebulization. The patients were monitored for adverse reactions. RESULTS Length of hospital stay in group A, B and C were as follows; 72.0 (20-288) hours in group A, 64.0 (12-168) hours in group B and 60.0 (12-264) hours in group C. No significant differences was observed among three groups (p>0.05). CONCLUSION 7% HS and 3% HS does not have any effect to decrease LOS for infants with bronchiolitis.

The plasma gelsolin levels in atopic dermatitis: Effect of atopy and disease severity

BACKGROUND Gelsolin is an actin-binding protein with several cellular functions including anti-apoptosis and is reported to have an anti-inflammatory effect. Apoptosis of keratinocytes has been implicated as a key mechanism of atopic dermatitis (AD). OBJECTIVE We aimed to determine plasma gelsolin (pGSN) levels in children with atopic dermatitis (AD). METHOD The diagnosis of AD was made according to Hanifin and Rajka criteria. The disease severity was scored by objective SCORAD index by the same allergist. Skin prick testing (SPT), total IgE levels, and eosinophil counts were analyzed. The pGSN levels were determined using ELISA technique. RESULTS Children aged between 0.5 and 3.0 years were included in the study. The children with AD (AD; n=84) were analyzed in two groups according to the presence (AD+/Atopy+; n=54) or absence of SPT positivity (AD+/Atopy-; n=30). The comparisons were made with a healthy control group matched for age and sex (n=81). The median (interquartile range) of pGSN levels in AD+/A+, AD+/A- and control groups were 267μg/ml (236-368), 293 (240-498) and 547 (361-695), respectively (p<0.001). The difference between the control group and AD sub-groups remained significant after Bonferroni correction (p<0.001). Correlation analysis failed to reach significance with the disease severity total IgE levels and eosinophil counts. CONCLUSION This is the first study investigating the association of pGSN levels with AD and disease severity. pGSN levels decreased in AD. These findings suggest that gelsolin may have a role in the disease process in AD patients.