Candidemia complicating biliary atresia in an infant with hemoglobinopathy.

Both biliary atresia and hemoglobinopathies have been associated with a higher incidence of bloodstream infections. We hereby present the case of a female infant of Nigerian descent with extrahepatic biliary atresia and double heterozygocity for sickle cell disease and alpha-thalassemia. Kasai hepatoportoenterostomy was performed in the child's sixth week of life. Bloodstream infections occurred two months post-hepatoportoenterostomy, even though the infant was still in prophylactic antibiotic treatment: the first was due to Candida albicans and was followed by bacteremia due to Escherichia coli. A third infection, confined to the skin only, was due to Acinetobacter spp. Treatment options, predisposing factors, and the pathophysiology of bloodstream infections in patients with biliary atresia and aberrant hemoglobin are discussed herein.

Hem biliyer atrezi, hem de hemoglobinopatilerde, kan dolasimi enfeksiyonu sikligi daha fazladir. Burada, ekstrahepatik biliyer atrezisi ve "sickle-cell" hastaligi ve alfa-talasemi için çift heterozigot olan Nijerya kökenli bir kiz bebegi sunuyoruz. Çocuga yasaminin altinci haftasinda Kasai hepatoportoenterostomi uygulandi. Halen profilaktik antibiyotik tedavisi almakta olmasina ragmen, hepatoportoenterostomiden iki ay sonra kan dolasimi enfeksiyonlari ortaya çikmistir: birincisi kandida albikansa bagli iken, bunu Escherichia coli'e bagli bakteriyemi izlemistir. Sadece cilt ile sinirli kalan üçüncü bir enfeksiyon Acinetobacter spp'e bagli olarak gelismistir. Bu yazida biliyer atrezi ve anormal hemoglobini olan hastalarda, tedavi seçenekleri, predispozan faktörler ve kan dolasimi enfeksiyonlarinin patofizyolojisi tartisilmistir.

Treatment-related myelodysplastic syndrome (t-MDS)/acute myeloid leukemia (AML) in children with cancer: A single-center experience.

Treatment-related myelodysplastic syndrome (t-MDS)/acute myeloid leukemia (AML) is a devastating early or late complication of treatment for childhood cancer related with a significant morbidity and mortality. We retrospectively studied survivors of childhood cancer. Overall, 287 patients were recorded in the databases and we identified three (1.04%) with t-MDS. The primary cancer diagnoses were Langerhans cell histiocytosis (one patient) and acute lymphoblastic leukemia (ALL; two patients). The mean age of patients was 12.1 years. All patients had received systemic antifungal treatment for invasive pulmonary aspergillosis successfully treated with voriconazole and liposomal amphotericin B before diagnosis of t-MDS. Two patients (66%) remain alive after a median follow-up period of 3.5 years.

Tumor lysis-like syndrome in a child during treatment for visceral leishmaniasis.

A 2.5-year-old girl was admitted due to splenomegaly and pancytopenia. Laboratory analysis revealed pancytopenia and hypergammaglobulinemia, and due to the absence of fever and the relevant clinical and hematological presentation the child was initially suspected for acute lymphoblastic leukemia. Bone marrow aspiration displayed macrophages and extracellular space containing Leishmania amastigotes. Visceral leishmaniasis diagnosis due to Leishmania infantum was confirmed by the presence of high titers of Leishmania antibodies and by PCR. The patient was successfully treated with liposomal amphotericin B but during the third post-treatment day significant increases in the levels of serum uric acid, blood urea nitrogen, and phosphate were registered. The child was successfully treated with hydration and urine alkalization and resulted in full recovery of the metabolic abnormalities.

Lumbar puncture complicated by spinal epidural hematoma in a child with leukemia.

We report a case of spinal epidural hematoma (SEH) preceded by diagnostic lumbar puncture (LP) in a 5-year-old boy with acute lymphoblastic leukemia. MRI confirmed the presence of SEH between T7 and L5 levels, but the patient showed fast recovery during the next hours and conservative management was elected.

Acute bronchiolitis in a paediatric emergency department of Northern Greece. Comparisons between two decades.

INTRODUCTION: Acute bronchiolitis is the most common lower respiratory tract infection in infants and toddlers concerning small bronchi or bronchioli. This retrospective study aimed to evaluate the incidence of acute bronchiolitis and the use of ß(2)-agonists between two different decades. MATERIAL AND METHODS: During 1990-1991 and 2001-2002, the files of the 2(nd) Paediatric Emergency Department of Aristotle University of Thessaloniki, AHEPA Hospital were reviewed and cases of acute bronchiolitis were recorded and analysed. RESULTS: During 1990-1991, 14 538 children were identified with respiratory infections and bronchiolitis was diagnosed in 519/14 538 children (3.56%). Only 34 out of 519 patients received nebulised salbutamol (6.6%) and 221/519 were hospitalized (42.6%). During 2001-2002, 9001 children were found to have respiratory tract infections and acute bronchiolitis was diagnosed in 641/9001 of them (7.12%). In total, 411/641 children (64.1%) received salbutamol and ipratropium, and 89/641 patients (13.88%) were hospitalized. There was a predominance of male sex in both decades (p = 0.509). There was a statistically significant difference (p < 0.001) concerning the use of nebulised salbutamol with nebulised ipratropium between the two decades. Finally, during 2001-2002, the use of bronchodilators with or without corticosteroids was more frequent and it appears to be correlated with the reduced number of admissions to hospital (p < 0.05) compared with 1990-1991. CONCLUSIONS: There was an increase in the incidence of acute bronchiolitis during the last decade. The admission rate decreased probably due to the use of nebulized salbutamol and ipratropium, but further multicentre comparative trials are required to define the role of bronchodilators in the treatment of acute bronchiolitis.

Association between primary nocturnal enuresis and habitual snoring in children with obstructive sleep apnoea-hypopnoea syndrome.

INTRODUCTION: Nocturnal enuresis (NE) and obstructive sleep apnoea-hypopnoea syndrome (OSAHS) are common problems during childhood, and population studies have reported a significant correlation between them. This study aimed to assess whether habitual snoring, mouth breathing and daytime sleepiness are associated with increased incidence of NE in children with OSAHS. MATERIAL AND METHODS: Polysomnography was performed in 42 children (66.7% males), 3.5-14.5 years old, who were evaluated for sleep-disordered breathing (SDB). RESULTS: Fourteen out of 42 children (33.3%) presented mild, 16 out of 42 (38.1%) moderate and 12 out of 42 (28.6%) severe degree of OSAHS. Apnea hypopnea index (AHI) ranged between 1.30-94.20 (10.54 ±15.67) events per hour of sleep. Nocturnal enuresis was reported in 7/42 (16.7%) of them. The main observed symptoms were snoring (90.5%), restless sleep (81%), mouth breathing (71.4%), nasal congestion (76.2%), and difficulty in arousal (52.4%). A statistically significant association was found between NE and mouth breathing (p = 0.014) or nasal congestion (p = 0.005). Children with OSAHS and NE had a higher arousal index (8.14 ±8.05) compared with OSAHS children without NE (4.61 ±7.95) (p = 0.19, z = -1.28). Snorers had higher levels of AHI (11.02 ±16.37) compared with non-snorers (6.05 ±4.81) (p = 0.33, z = -0.96), and habitually snorers (23/42, 54.76%) were at greater risk of having NE (4/23) than were non-snorers (0/4, p = 0.36). However, the prevalence of enuresis was not related to the severity of OSAHS, expressed as AHI (p = 0.70). CONCLUSIONS: Mouth breathing, nasal congestion and high threshold of arousal during sleep should be more carefully evaluated in cases of children with NE who do not respond to standard treatment and present SDB.

Transient myeloproliferative disorder in a newborn with down syndrome treated with rasburicase for the risk of development of tumor lysis syndrome: A case report.

INTRODUCTION: Transient myeloproliferative disorder is a hematologic abnormality characterized by an uncontrolled proliferation of myeloblasts in peripheral blood and bone marrow that primarily affects newborns and babies with Down syndrome. Tumor lysis syndrome is rarely associated with transient myeloproliferative disorder. CASE PRESENTATION: Transient myeloproliferative disorder was diagnosed in a seven-day-old baby girl with Down syndrome, who was referred to our department due to hyperleukocytosis. Our patient developed tumor lysis syndrome, successfully treated with rasburicase, as a complication of transient myeloproliferative disorder resulting from rapid degradation of myeloid blasts after initiation of effective chemotherapy. CONCLUSIONS: Tumor lysis syndrome is rarely reported as a complication of transient myeloproliferative disorder. To the best of our knowledge, this is the first case of a newborn with Down syndrome and transient myeloproliferative disorder treated with rasburicase for developing tumor lysis syndrome.

Diagnostic and prognostic role of procalcitonin in infections.

Despite several consensus conferences, the criteria for the definition of sepsis are still considered too sensitive and insufficiently specific. The traditional clinical signs of infection and routine laboratory tests used to diagnose bacterial infection and sepsis lack diagnostic accuracy and can be misleading, particularly in patients with immunodeficiencies. The problems with sepsis definitions and diagnoses are indications of the need to focus on biochemical mediators capable not only of distinguishing the inflammatory response to infection from other types of inflammation, but also of indicating the severity and prognosis of the disease. Thus, physicians need an early and rapid marker for detecting bacterial infection and distinguishing it from viral infection. Several studies revealed that elevated procalcitonin (PCT) levels in human blood could be detected in cases of sepsis and bacterial infection. PCT is a protein that can act as a hormone and a cytokine. It can be produced by several cell types and many organs in response to proinflammatory stimuli, particularly bacterial infection. It provides a rapid diagnostic test, available at the patient's bedside, and its half-life is suitable for daily monitoring of the disease progress.

Tumour necrosis factor gene polymorphisms and migraine in Greek children.

INTRODUCTION: Migraine is considered to be a multifactorial, complex disease. Various genetic and environmental factors contribute to the manifestation of this disease. The aim of this study was to determine whether polymorphisms in the tumour necrosis factor (TNF) region are associated with the risk of migraine. We examined the association between 6 single nucleotide polymorphisms in the coding regions of TNF-α and TNF-ß genes and migraine. MATERIAL AND METHODS: The study included two groups of children (group A and group B). Group A consisted of 103 unrelated children with typical migraine without aura 5-14 years of age. Group B (control group) consisted of 178 unrelated healthy children. The diagnosis of migraine was, in all patients, made according to the International Classification of Headache Disorders (ICHD II). RESULTS: According to our results positive family history was present in 62.2% of patients of group A. No significant differences were found in the frequencies of genotypes or alleles between patients and controls. The non-parametric analyses of variance showed no significant differences in the age at onset between genotype groups of the TNF-α and TNF-ß gene polymorphisms. Comparison of genotype frequencies between boys and girls in affected patients and control individuals were not significantly different (p = 0.089, p =0.073 respectively). The distribution of TNF polymorphisms was not associated with the presence of family history of migraine in patients. CONCLUSIONS: Our data indicate that TNF-α and TNF-ß gene polymorphisms are not a significant risk factor for migraine without aura in Greek children.

Hyponatraemia in cases of children with pneumonia.

INTRODUCTION: Hyponatraemia is the most common electrolyte imbalance seen in clinical practice, and a common laboratory finding in children with community-acquired pneumonia (CAP). This study aimed to identify the incidence of hyponatraemia in cases of CAP, to find predictive tools in order to classify the severity and outcome of CAP and to explore possible differences of clinical importance between the two sexes. MATERIAL AND METHODS: The medical files of 54 children (66.4% males), 4.67 ±2.88 years old, were retro-prospectively reviewed. RESULTS: 35/54 (64.8%) children with pneumonia had normal values of sodium at admission, 18/54 (33.3%) had mild hyponatraemia and 1 child (1.9%) moderate hyponatraemia. Increased heart rhythm and tachypnoea at admission were correlated with lower values of sodium (z= -2.664, p = 0.007 and z = -1.705, p = 0.089 respectively). No differences were found between the two sexes concerning the characteristics of pneumonia or the range of sodium in serum at admission. A correlation was found between sodium admission values and: a) C-reactive protein (p = 0.000), and b) leukocyte count (p = 0.006). Sedimentation rate (p = 0.021) was also considered as a possible risk factor affecting the value of sodium at admission to hospital. Finally, a negative association was also observed between the degree of hyponatraemia and the duration of hospitalization (z = -3.398, p = 0.001). CONCLUSIONS: Although studies in larger population groups are needed, in our study increased heart rhythm, tachypnoea, leucocyte count, C-reactive protein, and also erythrocyte sedimentation rate could be considered as possible risk factors influencing the degree of hyponatraemia, and thus the outcome of hospitalized children with CAP.

Procalcitonin as an early marker of bacterial infection in neutropenic febrile children with acute lymphoblastic leukemia.

OBJECTIVE AND DESIGN: The aim of this study was to assess the value of procalcitonin (PCT), C-reactive protein (CRP), tumor necrosis factor-alpha (TNF-a), interleukin (IL)-1b, IL-8, and soluble TNF receptor II (sTNFRII) in early and rapid diagnosis of infection in neutropenic children with acute lymphoblastic leukemia (ALL) and to distinguish bacterial from viral infections. PATIENTS: The study included five groups (A, B, C, D, and E) of children with ALL undergoing intensive chemotherapy. Groups A and B consisted of neutropenic children with bacterial and viral infection, respectively. Groups C and D consisted of nonneutropenic children with bacterial and viral infection, respectively. Group E consisted of children without neutropenia and without fever. METHODS: In all groups, blood samples were collected upon admission and then for 7 days on a daily basis. Levels of CRP, PCT, TNF-a, IL-1b, IL-8, and sTNFRII were determined in all blood samples. RESULTS: We found a highly significant difference in PCT levels between bacterial and nonbacterial episodes. Sensitivity and specificity of PCT were 94 and 96.5%, respectively. CONCLUSIONS: Serial measurement of PCT levels on a daily basis seems to be helpful for early prediction of severe bacterial infections, monitoring febrile episodes regarding response to antibiotic therapy, and early detection of complications in the infectious process.

The administration of estrogens, combined with anti-androgens, has beneficial effects on the hormonal features and asymmetric dimethyl-arginine levels, in women with the polycystic ovary syndrome.

The present study was designed in order to: (a) compare ET-1 and ADMA levels, between women with PCOS (n=106) and healthy controls (n=30); (b) determine the effects of treatment with estrogens and anti-androgens on the hormonal features of PCOS, insulin resistance, ET-1 and ADMA levels. Women with PCOS were randomized in five therapeutic protocols: (I) 17beta-estradiol+cyproterone acetate 50mg; (II) conjugated estrogen+CA 50 mg; (III) ethinyl estradiole+CA 2mg; (IV) EE+CA 52 mg; (V) EE+desogestrel. In all women, gonadotropin, PRL, androgen, SHBG, insulin, glucose, ET-1 and ADMA levels were determined; in women with PCOS, testosterone, SHBG, ET-1 and ADMA levels were measured again after 3, 6, 12 months of treatment and insulin and glucose levels after 12 months. ET-1 and ADMA concentrations were higher in women with PCOS, and they were positively correlated with each other. ADMA levels were decreased and IR was increased with treatment. Treatment with synthetic estrogens (EE) resulted in a more pronounced increase in SHBG and a more pronounced decrease in FAI, compared to natural estrogens. Conclusively, PCOS is associated with endothelial dysfunction, which is ameliorated by the administration of estrogens and anti-androgens, independent of IR.

Human neutrophil elastase in RSV bronchiolitis.

Acute bronchiolitis is the most common lower respiratory tract infection in young children and may be life-threatening in those with underlying cardiac or respiratory conditions. We evaluated the nasal and serum levels of human neutrophil elastase (HNE) in patients with acute respiratory syncytial virus (RSV) bronchiolitis and investigated the correlation of these levels with illness severity. Fifty-one patients (28 boys, 23 girls) with acute bronchiolitis positive for RSV by direct immunoenzyme assay in nasal secretions (Group A) were studied. Thirty healthy children (17 boys, 13 girls) constituted the control group (Group B). Subjects in both groups were matched for age and gender. The ages (mean+/-SE) in Groups A and B were 4.5+/-0.41 and 5.0+/-0.65 mo, respectively. Venous blood and nasal secretions were taken from patients in group A on 1, 5, and 15 days after admission and once from controls (Group B) for determinations of HNE in nasal lavage and serum, as well as white blood counts (WBC). The peripheral blood eosinophil and neutrophil counts were elevated in 22/51 patients (43.1%) and 15/51 patients (29.4%), respectively. In nasal lavage specimens, neutrophils represented>or=75% and eosinophils>2% of all cells in 42/51 (82.0%) patients and 11/51 (21.5%) patients, respectively. There was strong correlation between the level of HNE and the percentage of neutrophils in nasal lavage (r=0.92). The mean nasal HNE concentrations of the patients on 1, 5, and 15 days after admission were higher than those of Group B (p<0.0001, p<0.001, p<0.001, respectively). Mean serum HNE concentrations on 1, 5, and 15 days after admission were higher in Group A than in Group B (p<0.0001, p<0.0001, p<0.0001, respectively). Nasal and serum HNE concentrations showed no correlations with the clinical score of disease severity (r=0.28 and r=0.29, respectively). This study shows that (a) serum and nasal HNE concentrations were significantly higher in RSV bronchiolitis patients than in controls, (b) they did not return to normal after the respiratory symptoms had improved, and (c) they showed no significant correlations with clinical score of severity. The results indicate that neutrophils contribute significantly to airway inflammation in these subjects and HNE levels in serum and nasal lavage may be useful markers of inflammation in acute RSV bronchiolitis.

Adenosine deaminase activity and its isoenzyme pattern in women with recurrent spontaneous abortions.

Normal pregnancy is characterized by suppressed cell-mediated immunity. Adenosine deaminase (ADA) is a purine metabolic enzyme enriched in trophoblast cells of the placenta. It is an early marker of trophoblast cell differentiation. Also, the activation of ADA gene expression in the placenta is crucial and essential for proper fetal development. The activity of ADA shows changes in diseases characterized by the alteration of cell-mediated immunity. The purpose of this study was to assess the possible role of the alteration of cell-mediated immunity in women with recurrent spontaneous abortions (RSA) as a cause of changes in tADA activity, and also to evaluate the extent of the contribution of ADA1 and ADA2 to changes of tADA activity in serum and peripheral blood lymphocytes (PBLs). We measured in serum and in PBLs activities of tADA, ADA1 and ADA2 of 25 married women with RSA (group A) and of 28 healthy non-pregnant women (group B). According to our results in women with RSA, mean serum tADA, ADA1 and ADA2 activities were significantly higher than those of non-pregnant women (p < 0.001, p < 0.05 and p < 0.05 respectively). In women with RSA, mean PBLs tADA, ADA1 and ADA2 activities were significantly higher than those of non-pregnant women (p < 0.001, p < 0.05 and p < 0.05 respectively). The findings of this study show a marked increase of serum and PBLs ADA activities, which is derived from an increase of ADA2 and ADA1 activity in women with RSA. These changes reflect cell-mediated immunological changes.

Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest.

Hajdu-Cheney syndrome (acro-osteolysis) is a rare disorder of bone metabolism characterized by progressive lytic lesions in a number of bones. Constant features of this condition include an osteoporotic skeleton, acro-osteolysis, and a shortened lower third of face. The purpose of this report was to focus on the craniofacial and oral manifestations of the disorder in a 9-year-old boy.