Meltem Polat

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

To the Editor The gastrointestinal tract is the largest lymphoid organ in the body. One of the major functions of the gastrointestinal tract is maintaining of the balance between active immunity, tolerance and immunosuppression. Dysregulation of this physiologic process can lead to diseases such as food allergy, celiac disease (CD) or inflammatory bowel disease [1]. Therefore, gastrointestinal symptoms such as chronic diarrhea and malabsorption might be indicative of primary immunodeficiency diseases [1]. A 10-year-old girl referred to our clinic with a six-year history of chronic watery diarrhea and unresponsiveness to a gluten free diet. She had been evaluated and treated previously for chronic diarrhea, intermittent fever, recurrent pneumonia, candida esophagitis, pancytopenia, hypoalbuminemia, hypolipidemia, vitamin B12 and folic acid deficiencies. She was diagnosed with CD, based on serologic and histopathological findings. She was placed on a strict gluten free diet for a year, but diarrhea did not improve. She has two healthy brothers. Her parents were consanguineous. On physical examination, she was cachectic; with height for age below 3 % (height SDS −5.18) and weight for age below 3 % (weight SDS −5.27). Bone age and height age of the patient were 6 years, 10 months and 5 years, 3 months, respectively. She had protuberant abdomen and clubbing. Liver and spleenwere palpable at 1 cm and 4 cm below the costal margins. Laboratory tests revealed mildly increased liver transaminases. Hemoglobin was 8.32 g/dl; MCV, 85 fL; RDW, 23.4 %; white blood cell, 5570/mm; platelet, 230,000/mm; reticulocyte count, 1 % and ferritin, 2.8 ng/ml. Coombs test was negative. Sedimentation rate was 18 mm/h, C-reactive protein, 1.78 mg/dl. Stool examinations were normal. 25-hydroxi vitamin D level was 25.7 ng/ml. Insulin like growth factor 1 (IGF-1) was 3.5 ng/mL (Normal, 108–648 ng/mL) and insulin like growth factor binding protein (IGFBP-3), 580 ng/mL (Normal, 2690–7200 ng/mL). Stimulated IGF-1 and IGFBP-3 were 2.85 ng/mL and 720 ng/mL, respectively, both markedly reduced. Basal and stimulated growth hormone levels were compatible with growth hormone insensitivity (12.9 ng/mL and 9.79 ng/mL, respectively). Anti-tissue transglutaminase IgA was positive with a titer of 200 IU/ml. Thyroid auto-antibodies, anti-saccharomyces cerevicea antibody and pANCA were negative. Bone mineral density showed severe osteoporosis (Z score, −5). Chest X-ray showed reticular density in the parenchyma of the lung. High-resolution chest tomography showed bilateral tubular bronchiectasis. Smear staining for acid resistant bacteria and tuberculosis PCR, and culture were negative. Upper gastrointestinal endoscopic examination revealed scalloping in the duodenal mucosa. Colonoscopy showed nonspecific Buket Dalgic and Aydan Ikinciogullari contributed equally to this work.

A current analysis of caregivers’ approaches to fever and antipyretic usage

INTRODUCTION The aim of this survey was to investigate the current knowledge, attitudes, and practices of febrile childrens caregivers about fever, antipyretic usage, and temperature measurement methods in a tertiary care hospital. METHODOLOGY A 41-item questionnaire was administered to a convenience sample of febrile childrens caregivers in face-to-face interviews by two research assistants from January 2012 through June 2012 in an urban region of Turkey. RESULTS A total of 1,032 caregivers completed the interview. Approximately one-third of caregivers considered a temperature of less than 37.8°C (100°F) to be a fever, and 13% of all respondents would give antipyretics for a body temperature ≤ 37.8°C. Furthermore, 76% of parents would wake their children from sleep to administer antipyretics. Although a high proportion (89.5%) of respondents believed that fever had harmful effects, 10.5% considered fever to be beneficial. Alternating use of acetaminophen and ibuprofen (44%) and giving antipyretics routinely (71%) before and after immunizations were common parental practices and generally advised by pediatricians. Parents with higher levels of education were more likely to consider fever to be beneficial and to treat fever with antipyretics, and less likely to seek medical attention for mild fever. Most caregivers stated that they were unsure about the right site (90%) and thermometer type (95%) for temperature measurement. CONCLUSIONS Persistent fever anxiety and excessive antipyretic usage may be heightened by the lack of knowledge regarding accurate temperature measurement methods with digital thermometers in our population. Parental education may positively affect the approach to fever and antipyretic usage.

Successful treatment of Paecilomyces variotii peritonitis in a liver transplant patient.

Paecilomyces variotii has previously been reported as a causative pathogen for peritonitis in patients on continuous ambulatory peritoneal dialysis and shown to be usually sensitive to amphotericin B and resistant to voriconazole. We report the first case, to our knowledge, of P. variotii peritonitis in a liver transplant patient, which was unresponsive to initial liposomal amphotericin B (L-AmB) treatment and resolved dramatically after the addition of voriconazole. The present case provides evidence for the clinical and microbiological effectiveness of voriconazole combined with L-AmB in treating P. variotii peritonitis refractory to initial L-AmB treatment.

Prevention of measles spread on a paediatric ward

Since measles is a highly contagious respiratory infection with significant airborne transmission risk in hospitals, effective prevention measures are crucial. After a mother accompanying her child on a paediatric ward lacking a negative pressure room was diagnosed with measles, exposed persons without evidence of immunity (documentary evidence of receiving two doses of measles-mumps-rubella vaccine) were treated with vaccination or intravenous immunoglobulin (IVIG). The interruption of transmission with these treatments was evaluated. There were 44 children and 101 adults exposed to the index patient. Twenty-five children and 88 adults were considered immune, providing evidence of immunity. Nineteen children and 13 adults were either given vaccination or IVIG for post-exposure prophylaxis (PEP). There were no additional cases of measles after 3 weeks follow-up. We conclude that measles is highly preventable by adequate PEP with vaccination or IVIG in a healthcare setting that lacks the benefit of a negative pressure room.

Alteration of thiol-disulphide homeostasis in acute tonsillopharyngitis.

Objective: Thiol-disulphide homeostasis (TDH) has a critical role in various clinical disorders. We aimed to assess the association of TDH with acute tonsillopharyngitis (AT) in children. Methods: This study included 94 (73 viral and 21 bacterial) tonsillopharyngitis patients and 88 control children. Their native thiol, total thiol, and disulphide levels were measured. Results: Viral and bacterial tonsillopharyngitis patients had lower native thiol levels compared with healthy children (P < 0.001 and P = 0.008, respectively). Both groups had lower total thiol levels compared with control children (P = 0.002 for viral, P = 0.011 for bacterial). The disulphide levels were lower in bacterial than in viral tonsillopharyngitis patients (P = 0.04), and there was a significant difference between viral tonsillopharyngitis patients and the control group (P < 0.001). The native/total thiol ratio in each patient group was lower than in the control group (P < 0.001 for viral, P = 0.017 for bacterial). The disulphide/native thiol and disulphide/total thiol ratios were significantly higher in viral (P < 0.001 for both) and bacterial tonsillopharyngitis patients (P = 0.017 for both) than in healthy children. In all patients, a correlation was found between the levels of C-reactive protein (CRP) and native thiol (r = −0.211, P = 0.04), CRP and total thiol (r = −0.217, P = 0.036), white blood cell (WBC) and native thiol (r = −0.228, P = 0.002), WBC and total thiol (r = −0.191, P = 0.01), and WBC and disulphide (r = 0.160, P = 0.03). Discussion: TDH is altered in AT in children. The alteration is more prominent in viral than in bacterial tonsillopharyngitis.

Tularemia in Children, Turkey, September 2009-November 2012

Clinical course in children differs from that in adults.

Type I allergic hypersensitivity reactions due to ethylene oxide sterilised leucocyte filters in patients with thalassaemia: report of four cases.

Ethylene oxide (EO) is a highly reactive gas used in sterilisation of heat sensitive medical devices, such as infusion sets, cannulae, intubation materials, ventriculoperitoneal shunts, dialysis catheters and stents. Allergic reactions due to EO have been reported in haemodialysis patients, patients undergoing extracorporeal photopheresis and donors of plasmapheresis. Clinical manifestations vary considerably and generally do not allow differentiation between IgE-mediated anaphylaxis and anaphylactoid reactions. We report four patients with thalassaemia who experienced anaphylaxis during transfusion due to ethylene oxide sterilised leucocyte filters. The aim of this report is to highlight the fact that frequently transfused patients can have allergic reactions due to EO particles left in leucocyte filters.

Neutrophil gelatinase-associated lipocalin as a follow-up marker in critically ill pediatric patients with established acute kidney injury.

Aim: To assess the utility of neutrophil gelatinase-associated lipocalin (NGAL) in both urine and serum as a follow-up marker for the discrimination of prerenal acute kidney injury (AKI) from intrinsic AKI in critically ill pediatric patients with established AKI at the time of patient presentation. Patients and methods: This was a prospective cohort study of a heterogeneous group of critically ill children in the pediatric intensive care unit (PICU). Serum creatinine (SCr) values were obtained daily as part of routine patient care. AKI was defined as a 50% or greater increase in SCr from baseline and classified as prerenal and intrinsic AKI. Results: A total of 32 critically ill children (mean age: 105 ± 71.7 months, 56% female) with established AKI were included to the study. Area under curve (AUC) for urine and serum NGAL to distinguish prerenal AKI from intrinsic AKI was 0.94, 95% confidence interval (CI): 0.869–1.02 (p < 0.001) and 0.86, 95% CI: 0.71–1.02 (p = 0.002), respectively. Conclusion: In a heterogeneous group of critically ill children with established AKI, we found that NGAL in both urine and serum at the time of patient presentation discriminated intrinsic AKI from prerenal AKI.

Association between deep neck space abscesses and internal carotid artery narrowing in pediatric patients

Background/aim: Our aim was to interpret the effects of deep neck space abscesses on the adjacent carotid artery according to abscess location, as well as to determine narrowing by calculating the mean stenosis ratios.Materials and methods: Neck computed tomography scans and clinical data of 45 children with neck abscesses were evaluated retrospectively for abscess location and internal carotid artery narrowing. The lumen areas of the carotid arteries were measured from standard levels, and stenosis ratios were calculated with two different techniques. The mean stenosis ratios of each group according to abscess location were then compared with the control group.Results: Among the 45 abscesses included in the study, 51.1% (n = 23/45) were located in the peritonsillar region, 37.8% (n = 17/45) were located in the parapharyngeal-lateral retropharyngeal space, and 11.1% (n = 5/45) were in the midline retropharyngeal space. We found a statistically significant difference between the mean stenosis ratios of the ipsilateral side of the parapharyngeal-lateral retropharyngeal abscesses and the control group (P < 0.01).Conclusion: The children with parapharyngeal-lateral retropharyngeal abscesses all had narrowing in the adjacent carotid lumen to some degree. Although most of the patients had no clinical symptoms, radiologists have to be aware of this arterial complication to prevent further progress and fatal complications.

Once-daily intramuscular amikacin for outpatient treatment of lower urinary tract infections caused by extended-spectrum β-lactamase-producing Escherichia coli in children

Background The rise in community-acquired urinary tract infections (UTIs) with extended-spectrum β-lactamase (ESBL)-producing Escherichia coli strains raises the question of how to treat these infections effectively in pediatric outpatients. Amikacin has shown promising in vitro activity against ESBL-producing urinary isolates of E. coli; however, clinical data are limited. Objective To investigate the clinical and microbiological outcomes of community-acquired lower UTIs caused by ESBL-producing E. coli treated with outpatient amikacin in children. Materials and methods A retrospective cohort study was performed on pediatric patients aged ≥2 to 18 years treated as outpatients with intramuscular amikacin (given at a dose of 15 mg/kg/day once daily) for community-acquired lower UTIs caused by ESBL-producing E. coli, between January 2015 and December 2016. Results A total of 53 pediatric patients (38 females) were enrolled in this study. The median age was 4.7 years (range 3–12 years). All E. coli isolates were susceptible to amikacin with minimum inhibitory concentrations of ≤4 mg/L. The median duration of amikacin treatment was 6 days (range 3–7 days). Favorable clinical and bacteriological responses were observed in 51 of 53 (96%) patients. Development of resistance during treatment with amikacin was seen in only 1 patient (2%), who failed to respond to amikacin treatment and developed acute pyelonephritis with bacteremia. Relapsed lower UTI after initial treatment response occurred in 1 patient (2%) 2 weeks after completion of amikacin treatment. All patients had normal serum creatinine values at baseline, and no significant nephrotoxicity or ototoxicity was observed in any of the patients. Conclusion Our study suggests that once-daily intramuscular amikacin could be an alternative option for outpatient treatment of community-acquired lower UTIs caused by amikacin-susceptible ESBL-producing E. coli in pediatric patients with normal renal function, when there are no suitable oral antibiotics.