Fadil Vardar

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Acquired protein S deficiency and lupus anticoagulant have been described in children with varicella who had purpura fulminans, disseminated intravascular coagulation or thrombosis. The aim of this study was to investigate the natural anticoagulants, hypercoagulability markers, other parameters of coagulation and fibrinolytic systems, and the presence of the lupus anticoagulant in otherwise healthy children with acute varicella infection. Blood samples were obtained from 17 children with varicella without thrombosis during acute varicella infection and 1 mo after onset. Coagulation tests included determinations of the prothrombin time, the activated partial thromboplastin time, the thrombin time, the thrombin antithrombin complex, the prothrombin fragment F 1 + 2, the tissue plasminogen activator, the plasminogen activator inhibitor‐1, protein C activity and free protein S antigen. Antiphospholipid antibodies were determined in enzyme‐linked immunosorbent assays. The mean free protein S concentration in the acute phase (0.63 ±0.16U/ml) was significantly lower than that of the concentration determined 1 mo later (0.82 ± 0.17 U/ml). The children with acquired free protein S deficiency also had a lupus anticoagulant. Elevated concentrations of the prothrombin fragment F 1+2, the thrombin antithrombin complex, D‐Dimer, tissue plasminogen activator and plasminogen activator inhibitor‐1 were detected in most of the children.

Evaluation of 80 children with prolonged fever

Background : Several studies have been published regarding the etiology and evaluation of a child with prolonged fever, however, the reasons for the prolonged fever have changed during the years. The present study aims to determine the causes of prolonged fever, to investigate the relationship of fever using some basic laboratory tests, and to establish guidelines for the approach in those children.

Griscelli syndrome: Report of a case and review of the literature

characterized by pigmentary dilution and variable immunodeficiency.1 The clinical symptoms consist of silver–gray hair and relatively light skin color, recurrent episodes of fever, with or without pyogenic infections, hepatosplenomegaly and lymphadenopathy.2 Central nervous system involvement has also been described in most patients.3 Clinical onset usually occurs between 4 months and 7 years of age.1–5 In the present study, we report on a 6-week-old Turkish boy with Griscelli syndrome.

Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock

Background: Sepsis is characterized by a systemic inflammatory response. Its development and outcome are associated with host defense, pathogenicity of the microorganism and genetic polymorphisms. Genetic polymorphisms of the immune system genes have been shown to have a close relationship with the clinical outcomes of sepsis. Angiotensin‐converting enzyme (ACE) plays a major role in the host defense against invading pathogens. It is therefore likely that polymorphisms in the ACE gene may have an important effect on determining the development and the outcome of sepsis.

Effect on Hearing of Oral Valganciclovir for Asymptomatic Congenital Cytomegalovirus Infection

Congenital cytomegalovirus (CMV) infection is the leading nongenetic cause of congenital sensorineural hearing loss (SNHL). Hearing loss due to congenital CMV infection either has onset after the newborn period or shows progressive decline in auditory thresholds. Although 90% of the congenitally infected infants are asymptomatic at birth, evidence is accumulating that these infants are at risk for audiologic, neurologic and developmental sequelae. In symptomatically infected infants, ganciclovir therapy administered in the neonatal period prevents hearing deterioration. However, preventative therapy of asymptomatic congenital CMV disease is controversial. Here in, we reported a male newborn with asymptomatic congenital CMV with bilateral SNHL. Oral treatment with valganciclovir in patient resulted in progressive improvement of SNHL, which effectively reduced the CMV viral load and was well tolerated without apparent adverse effects.

Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide. A 2-year-old female patient was hospitalized due to recurrent infections starting from 6 months and a fever that had continued for a month. The parents were first cousins. Physical examination showed a failure to thrive, herpetic lesions around the lips, painful lesions on the tongue and the buccal mucosa, lung infection, and spastic paraparesis in the lower extremities. She had motor and mental retardation. Laboratory tests revealed lymphopenia; low CD3, CD4, and CD8 counts; normal immunoglobulin levels; low uric acid; and very low purine nucleoside phosphorylase enzyme activity (1.4 nmol/h/mg; normal range, 490-1530). DNA sequencing of the purine nucleosidase phosphorylase gene revealed a missense homozygous mutation, a G to A transition at exon 4 position 64 (349G>A transition), which led to a substitution of alanine by threonine at codon 117 (Ala117Thr). Both parents were heterozygous for the mutation. This is the second purine nucleosidase phosphorylase deficient case to have been presented and carrying this mutation worldwide. Various antibiotics, antifungal drugs, and intravenous immunoglobulin were used to treat the infections during her 3 months. This form of treatment proved to be unresponsive, resulting in her subsequent death at 26 months of age.

A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis

Mondinis dysplasia is a developmental anomaly of the middle ear characterized by cochlear malformation with dilation of the vestibular aquaduct, vestibule, and ampullar ends of the semicircular canals. These deformities may result in a connection between subarachnoid space and the middle ear resulting in recurrent episodes of meningitis. Additionally, it is commonly associated with hearing impairment. We describe here a boy with recurrent meningitis and unilateral sensorineural hearing loss. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of recurrent meningitis.

Purulent meningitis due to Rhodococcus equi : A case of posttraumatic infection

Opportunistic infections due to Rhodococcus equi have been increasingly reported in the immunocompromised population, especially in patients with AIDS. In this report, we present an unusual case of purulent meningitis that developed in an immunocompetent six‐year‐old child through direct inoculation of R. equi.

The effect of immunization against tetanus during pregnancy for protective antibody titres and specific antibody responses of infants

The protective effect of immunization against tetanus during pregnancy was examined by determining the serum antitoxin titres in 28 infants of twice immunized mothers and in 39 infants of non-immunized mothers during pregnancy. In addition, it was also determined whether transplacentally passive immunization of infants exerts a suppressive effect on active immunization with DPT vaccine. Before primary immunization with DPT, serum tetanus antitoxin (IgG) titres higher than protective level of 0.1 IU/ml were found in 100 per cent of infants of mothers immunized during pregnancy. Thirty-one per cent of infants born to non-immunized mothers had serum tetanus antitoxin titres below the protective level. In the sera obtained 1 month after the third dose of DPT vaccine, no significant difference was observed between the infants of both groups of mothers. It was concluded that specific antibody responses to three doses of DPT vaccine in infants who had received passive immunity from their mothers were not suppressed, and administration of two doses of tetanus toxoid to women during pregnancy provided passive transient protection of the infant against tetanus before administration of first dose of DPT vaccine.

Proven and probable invasive fungal infections in children with acute lymphoblastic leukaemia: results from an university hospital, 2005–2013

Despite improvements in diagnosis and treatment, invasive fungal infections (IFIs) are still a major cause of morbidity and mortality in immunocompromised patients. The data on IFI among children with acute lymphoblastic leukaemia (ALL) are still scarce, and our aim was to estimate the risk, aetiology and outcome of proven and probable IFIs in children with ALL who did not receive primary prophylaxis over an 8‐year period. Between January 2005 and February 2013, 125 children who were treated for ALL at the Pediatric Hematology Department of the Medical School of Ege University were retrospectively reviewed. Proven and probable IFIs were defined according to revised definitions of the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group. The proven and probable IFI incidence was 30/125 (24%). Profound neutropenia was detected in 18 (60%) patients, and prolonged neutropenia was detected in 16 (53.3%) of the patients. The most isolated agents were non‐albicans Candida spp. The crude and attributable mortality was 20% and 13.3% respectively. Profound neutropenia was associated with mortality (P < 0.05). The younger patients were especially at risk for proven IFI. Prolonged neutropenia, to be in the induction phase of chemotherapy, and profound neutropenia were found to be the most common predisposing factors for IFI episodes.