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High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

OBJECTIVE The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. RESULTS A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n=380) were heterozygous, 14.2% were homozygous (n=72) and 10.8% were compound heterozygous (n=55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). CONCLUSION The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.

Usefulness of Mean Platelet Volume and Neutrophil-to-Lymphocyte Ratio for Evaluation of Children with Familial Mediterranean Fever

Background Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of serositis, fever, and rash. Clinical and subclinical inflammatory processes may contribute to atherosclerosis in FMF patients, with mean platelet volume (MPV) as a potential indicator for atherosclerosis risk and neutrophil-to-lymphocyte ratio (NLR) as a marker for subclinical inflammation in these patients. In this study, we investigated whether MPV can be used as an indicator for atherosclerosis risk and if NLR is a marker for subclinical inflammation in FMF patients. Material/Methods The study consisted of 75 FMF patients in attack, 157 attack-free patients, and 77 healthy controls. White blood cell count neutrophil-to-lymphocyte ratio, platelet count, MPV, PDW C-reactive protein levels, and erythrocyte sedimentation rate were recorded. Results There were no significant differences between attack, attack-free, and control groups in terms of mean MPV and PDW value. NLR value was higher in the attack group. NLR value was similar in attack-free and control groups. Conclusions We found that MPV and PDW values are similar in FMF patients and healthy controls. NLR was higher in FMF patients in the attack period. Therefore, our results suggest that MPV and PDW values do not predict atherosclerosis risk in pediatric FMF patients, and NLR may be an indicator for attack period but not attack-free period.

Urinary early kidney injury molecules in children with beta-thalassemia major.

Abstract Background: The aim of this study was to investigate novel urinary biomarkers including N-acetyl-β-d-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and liver-type fatty acid binding protein (L-FABP) in children with β-thalassemia major (β-TM). Materials and methods: Totally, 52 patients (29 boys, 23 girls) with β-TM and 29 healthy controls (3–17 years) were included. Various demographic characteristics and blood transfusions/year, disease duration, and chelation therapy were recorded. Serum urea, creatinine, electrolytes, and ferritin and urinary creatinine, protein, calcium, phosphorus, sodium, potassium, and uric acid in first morning urine samples were measured and estimated glomerular filtration rate (eGFR) was calculated. Routine serum and urinary biochemical variables, urinary NAG to Creatinine (UNAG/Cr), UNGAL/Cr, UKIM-1/Cr, and UL-FABP/Cr ratios were determined. Results: Patients had similar mean serum urea, creatinine and eGFR levels compared with controls (p > 0.05 for all). The mean urinary protein to creatinine (UProtein/Cr) ratio was significantly higher in patients compared to the healthy subjects (0.13 ± 0.09 mg/mg and 0.07 ± 0.04 mg/mg, respectively; p < 0.001). Significantly increased UNAG/Cr (0.48 ± 0.58 vs. 0.23 ± 0.16, p = 0.026) and UNGAL/Cr (22.1 ± 18.5 vs. 11.5 ± 6.17, p = 0.01) ratios were found in β-TM patients compared with healthy controls. However, no differences were found in serum and urinary electrolytes or UKIM-1/Cr and UL-FABP/Cr ratios between patients and controls (p > 0.05). Significant correlations were found between urinary biomarkers and urinary electrolytes (p < 0.05). Conclusions: Our results suggest that urinary NAG and NGAL may be considered to be reliable markers to monitor renal injury in β-TM patients.

Management of intestinal bleeding with single‐dose cyclophosphamide in Henoch–Schönlein purpura

In these case series, we report on six children (3 girls, 3 boys) aged 5–13 years with Henoch–Schönlein purpura (HSP) who developed severe gastrointestinal (GI) bleeding resistant to both 2 mg/kg or pulse (10–30 mg/kg) i.v. methylprednisolone. All patients responded to single‐dose (500 mg/m2) i.v. cyclophosphamide (CPA) and none of them developed new GI bleeding after CPA treatment. No patients required surgical intervention. Single high‐dose CPA may be beneficial in HSP with severe GI involvement, in which bleeding is non‐responsive to high‐dose steroids.

Cardiac Tamponade may be the First Symptom of Leukemia

Acute myeloblastic leukemia (AML) is originating from hematopoietic precursor cells. CD7 is expressed in 30% of AML cases and is associated with poor prognosis in myeloid malignancies [1,2]. Pericardial effusion complicated by cardiac tamponade is a life-threatening condition is quite rare as the initial symptom in cases with AMLM4 [3,4]. Pericardial effusion can be observed during the course of the leukemiawhile it can also develop secondary to infectious, hemorrhagic causes as well as leukemic infiltration. It is especially associated with chemotherapeutics such as bleomycin, all-trans-retinoic acid, and cyclophosphamide [5]. In this report, it was aimed to increase the awareness of the fact that pericardial tamponade may sometimes be the first sign of leukemia. A 7-year-old boy in toxic appearance presented with fatigue, respiratory difficulty for 1 month. He was hypotensive, tachypneic, and tachycardic. His growth and development were consistent with his age. Respiratory examination revealed fine crackles at the base of the lungs. His heart sounds became muffled and hepatosplenomegaly was detected. Chest X-ray demonstrated increased cardiothoracic index. Transthoracic echocardiography showed pericardial effusion and diastolic right atrial collapse (Figure 1). Pericardiocentesis was performed. Direct examination of the exudative fluid revealed leukemic cells. Complete blood count revealed, hemoglobin level 8 g/dL, platelet count 35 × 106 per mm3, leukocyte count 7,7 × 10 mc/L. Serum lactate dehydrogenase: 1995U/L (normal 125–243U/L), other biochemical tests were normal. According to immunophenotyping study and bone marrow aspiration; the patient was diagnosed with CD7+ AMLM4 (French-American-British classification). Based on AML-BFM-2004 protocol, induction chemotherapy was begun. At the tenth day of the therapy, pericardial fluid was dramatically decreased.The patient now is at thefirst year ofmaintenance therapyof theAML-BFM2004 treatment protocol and healthy. Inchildhood,AMLsexpressionof lymphoid-associated surfaceantigens is amarker of poor prognosis [1]. AML, especially subtypeM4, associatedwith CD7 has a particular worse prognosis with a lower complete remission rate [6]. When complications of leukostasis known as a severemedical emergency necessitating rapid treatment, such

Kan grubu uyuşmazlığı bulunmayan yenidoğanlarda kan değişimi sonuçları

Objective: Hyperbilirubinemia is a common problem of neonatal period that has high morbidity and mortality. Blood exchange is the most effective and urgent treatment modality for very high bilirubin levels that can lead to neurotoxicity called as kernicterus. The aim of this study was to compare 90 minutes exchange transfusion with that of 120 minutes.

Respiratuvar depression after accidental nasal ingestion of brimonidine eye drops in infant

Objectives Brimonidine tartrate is an alpha-2 agonist used for glaucoma treatment. It can lead to serious poisoning symptoms when misused by children. Case report In this case report, 3 months-old male patient with severe central nervous system depression and respiratory arrest as a result of accidentally nasal instillation of 1 cc brimonidine tartrate that benefited from mechanic ventilation and naloxone treatment was presented. Conclusion This case report suggested, that misuse of nasal brimonidine eye drop could result in serious respiratory distress and central nervous system depression. Mechanical ventilation and naloxone administration can be useful for these patients.

Seropositivity for Chlamydia Pneumoniae and Mycoplasma Pneumoniae in Asthmatic Children

Acute respiratory tract infections may trigger acute asthma attacks and may be held responsible for etiopathogenesis in children with asthma. Although bacterial infections attract a limited amount of attention, recently Chlamydia pneumoniae (CP) and Mycoplasma pneumoniae (MP), in particular, are reported to be the possible factors. IgM and IgG seroprevalence was investigated in 66 children patients with bronchial asthma (between the ages of 3 and 14) for CP and Mycoplasma pneumoniae. In a total of 66 cases, 18 (27.2%) patients were detected with IgG positivity for CP whereas 27 of them (40.9%) were detected with IgG positivity for MP. IgG positivity was determined in 6 patients (13.0%) in the control group for CP, and in 6 patients (10.8%) in the control group for MP. The rate of the asthma patients with IgG seropositivity for MP was 4 times higher than that of the control group. It was seen that IgG antibody seropositivity for CP was higher in those with more frequent attacks. No such difference was observed in terms of IgG antibody seropositivity for M. pneumoniae. There are many studies indicating that CP and MP infections take an importance place in the etiology of bronchial asthma and asthma attacks in children. The results obtained reveal the effect of both microorganisms on the etiopathogenesis of the bronchial asthma and the increased number of asthma attacks.

Toksik epidermal nekrolizisli bir hastanın yüksek doz intravenöz immünglobulin ile başarılı tedavisi

Toksik epidermal nekrolizis (TEN) sıklıkla ilaç kullanımı sonucu gelişen, akut başlangıçlı, çok hızlı ilerleyen, epidermis nekrozu ile karakterize bir hastalıktır. Şiddetli seyreden olgularda mortalite oranı %20-60 arasında değişir. Kesin tedavisi olmamasına rağmen intravenöz immünglobulin (İVİG) tedavisinin etkili olduğunu belirten yayınlar mevcuttur. Bu çalışmada; ibuprofen, metronidazol, klaritromisin ve prokain penisilin kullandıktan üç gün sonra deri döküntüleri başlayan ve %50 oranında ikinci derecede yanık düzeyinde lezyonlar ile TEN tablosu gelişen 9 yaşında erkek hasta sunulmuştur. Hastaya verilen yüksek doz İVİG tedavisi ile düzelme sağlandı. Bu olgu TEN tedavisinde etkinliği tartışmalı olan İVİG tedavisine olumlu yanıt alınabileceğine bir örnektir.

Çocuk yoğun bakım hastalarında kan laktat düzeyleri ile mortalite arasındaki ilişki

Objective: To determine relationship between blood lactate level and mortality rate in children admitted to the intensive care unit. Methods: 298 critically ill patients aged between 28 days and 16 years admitted to Dicle University Hospital, the third step Pediatric Intensive Care Unit in between January 2007 and December 2007 were included. Age, sex, diagnosis, Glasgow coma score points, the first measured blood lactate levels (lactate 1) and the arithmetic average of all measured blood lactate levels during treatment (lactate 2) of cases were evaluated. Patients were divided into group A (lactate < 20 mg/dl) and B (lactate ≥ 20 mg/dl). According to the results, patients were classified as survivors and non-survivors. Both lactate 1 and lactate 2 were compared with mortality rates. Results: In this study, a total of 298 patients were evaluated, 158 of them were nonsurvivors and 140 were survivors. A significant correlation was found between lactate levels and mortality rates. Lactate levels were higher in non-survivor cases (p<0.001). In group B, lactate 1 had 68% (106/156) sensitivity and 75% (106/142) specificity for determining the risk of mortality. Also in group B, lactate 2 had 85% (134/158) sensitivity and 79% (134/169) specificity for determining the risk of mortality. Conclusion: There is a strong association between high blood lactate levels and mortality rates in the critically ill patients in pediatric intensive care unit. In these patients blood lactate levels can be used for follow-up and evaluation of the effectiveness of treatment and determining mortality. J Clin Exp Invest 2013; 4 (3): 269-273