A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this 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. METHODS: Ninety-eight children diagnosed as having sepsis and 287 healthy children were included in the study. Insertion/deletion polymorphisms were analyzed using reverse-hybridization assay. RESULTS: The carriers of I allele (D/I genotype and I/I genotype) were found to have an increased risk of developing sepsis compared to the controls. CONCLUSION: DD genotype may play a positive role against the development of sepsis in healthy children.

Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis.

The aim of this study was to examine the presence of any association between mannose binding lectin (MBL) gene variants and bacterial meningitis. Codon 54 (B allele) and codon 57 (C allele) polymorphisms in exon 1 of the MBL gene were investigated in 50 healthy controls and 31 patients diagnosed as purulent meningitis. Codon 57 polymorphism was not found in our patient and control groups. B allele frequency was significantly higher in the patient group (22%) compared to the control group (3%). AB genotype was determined in 39% and 6% of patient and healthy control groups, respectively, and the difference was statistically significant. AA genotype was determined in 61% of the patient group and in 94% of the control group, and it was statistically low in the patient group. These results suggest that codon 54 polymorphism in the MBL gene may play a role in susceptibility to bacterial meningitis in children.

Late-onset distal polyneuropathy due to acute organophosphate intoxication case report.

Intoxications due to organophosphate insecticides are common in our country, since agriculture has an important place. Besides the well known acute cholinergic toxicity, these compounds may cause late-onset distal polyneuropathy occurring two to three weeks after the acute exposure. An eight-year-old boy and a 13-year-old girl admitted to the hospital with gait disturbances. Beginning 15 and 20 days, respectively, after organophosphate ingestion. Neurologic examination revealed bilateral dropped foot, absent Achilles tendon reflexes and peripheral sensory loss. Electromyography demonstrated motor weighed sensory-motor polyneuropathy with axonal degeneration significant in the distal parts of bilateral lower extremities. Biochemical, radiological findings and magnetic resonance imagings were normal. The two cases were taken under a physiotherapy program. The two cases are presented here since organophosphate poisonings are common in our country, and since late-onset polyneuropathy is not a well known clinical presentation as acute toxicity.

Comparison of oral and intravenous Ibuprofen for medical closure of patent ductus arteriosus: which one is better?

OBJECTIVE: Intravenous ibuprofen is an expensive drug that is being used currently for treating and preventing patent ductus arteriosus. Although oral ibuprofen is much cheaper, there is limited data published about its safety and efficacy. The aim of this study was to compare two forms of ibuprofen in terms of safety and efficacy in closure of patent ductus arteriosus. DESIGN: This is a single-center retrospective study. SETTING: Data were collected from patients' files of preterm infants who were hospitalized at the Neonatal Intensive Care Unit of Dr. Behcet Uz Children's Hospital between April 2009 and June 2010. PATIENTS: Six hundred sixty infants were evaluated by echocardiography between 24 and 48 postnatal hours. Clinically and hemodynamically significant ductus arteriosus was defined in 66 infants with gestational age less than 32 weeks and birth weight less than 1500 g. INTERVENTIONS: Oral or intravenous ibuprofen (loading dose: 10 mg/kg on day 1, followed by maintenance dose: 5 mg/kg on days 2 and 3) was administered. OUTCOME MEASURES: Treatment success was defined as a completely closed duct without reopening on follow-up. Drug-associated renal, gastrointestinal, cerebral, hematological, and metabolic side effects were monitored and compared between treatment groups. RESULTS: Ductal closure rates were 100% and 97.6%, respectively, in the oral and intravenous groups. Hypernatremia was the remarkable side effect in the intravenous group, whereas bronchopulmonary dysplasia and septicemia were prominent in the oral group. No statistically significant difference could be demonstrated between the groups in terms of mortality rates. CONCLUSION: Oral ibuprofen therapy is as efficacious as intravenous ibuprofen with some concerns about increased sepsis and bronchopulmonary dysplasia incidence. However, comprehensive and large-scale pharmacokinetic studies are required in order to prove this efficacy. On the other hand, intravenous ibuprofen still remains to be the drug of choice for patent ductus arteriosus but only with meticulous control of serum sodium levels in smaller infants.

Epidemic adenoviral keratoconjunctivitis possibly related to ophthalmological procedures in a neonatal intensive care unit: lessons from an outbreak.

PURPOSE: Epidemic adenoviral keratoconjunctivitis can spread rapidly among preterm infants who frequently undergo ophthalmological examination. Here we present our experience on a nosocomial outbreak that affected 8 nursery staff members and 26 premature infants. We focus on the presentation and progress of the outbreak, the diagnosis of the disease and the measures taken for its control. METHODS: Data were collected from patients' files and records of the infection control team. Conjunctival swabs were collected to perform direct fluorescent assay (DFA) and viral culture. Diagnosis was made according to clinical evidence and/or detection of the virus. Statistical analysis was performed using SPSS 15.0 statistical software. RESULTS: Infection was introduced to our unit after a laser photocoagulation procedure of a 28-week gestational infant and circulated rapidly within the unit due to direct transmission through contaminated medical equipment, fomites and hands of nursery staff members. Neither the patients, nor the nursery staff members developed systemic symptoms. While DFA tests were positive in seven infants, culture positivity could be demonstrated in only three infants. Contact and droplet precautions were implemented with the recommendation of the infection control team. No recurrence occurred after definition of the last case on the 32nd day. CONCLUSION: Ophthalmologic procedures continue to be a potential source of adenovirus outbreaks. However, negligence of contact measures during routine daily nursing care seems to be a more important contributing factor for rapid spread. Strict adherence to appropriate aseptic procedures is required to prevent this potentially hazardous infection in preterm infants.

Evaluation of adhesion molecules CD64, CD11b and CD62L in neutrophils and monocytes of peripheral blood for early diagnosis of neonatal infection.

BACKGROUND: This study was undertaken to assess the value of neutrophils CD11b, CD64, and CD62L for the early diagnosis of neonatal infection. METHODS: Eighty-four neonates who were followed up for a suspected neonatal infection were included in this study. They were assigned into an infection group (n=49) and a non-infection group (n=35). Healthy neonates served as controls (n=35). A full sepsis screening was performed and neutrophil and monocyte expressions of CD11b, CD64 and CD62L were determined by flow cytometry. RESULTS: The expressions of CD64 and CD11b were significantly enhanced in the infection group compared to the non-infective group and the controls. CONCLUSIONS: CD64 expression on neutrophils and monocytes is a useful diagnostic marker for the early diagnosis of neonatal infection. Combination of CD64, CD11b and C reactive protein further enhances the sensitivity of the expression and its negative predictive value.

Monocyte HLA-DR expression as predictor of poor outcome in neonates with late onset neonatal sepsis.

OBJECTIVES: Down regulation of HLA-DR expression on monocytes has been reported in adult sepsis. The aims of this study were, first to evaluate monocyte HLA-DR expression in late onset neonatal infection and second to investigate the prognostic value of monocyte HLA-DR expression at onset of symptoms for the final outcome. METHODS: Peripheral blood samples were taken from neonates, who were classified into three groups: late onset neonatal sepsis group (n=40); non-infective disorders group (n=24) and the control group (n=25). Monocyte expression of HLA-DR was determined by flow cytometry. RESULTS: The percentage of monocytes expressing HLA-DR was lower in neonates with late onset sepsis (p<0.05). Of the 40 septic patients enrolled in the study, 32 survived, while 8 died. The percentage of HLA-DR expressing monocytes was significantly lower in the non-survivor sepsis group (16.6%) compared with that in the survivor sepsis group (45.2%). The optimal cutoff value of HLA-DR for predicting mortality was 30% with 87% sensitivity and 81% specificity. Patients with monocyte HLA-DR expression

The effects of topical iodine containing antiseptics on thyroidal status of preterm versus term babies.

OBJECTIVE: To determine the effect of iodine containing antiseptics on thyroid function for the first 3 weeks in non-very-low-birth weight preterm and term babies, and to evaluate their thyroid function and behavioral status 7 years later. METHODS: Cohort I (between the years 1997-1998) was studied in 57 preterm (30-35 weeks) and 29 term newborns, 7 years later cohort II (in the year 2005) was created from same 28 preterm and 18 term infants at Behcet Uz Children's Hospital, Izmir, Turkey. Serum thyrotropin, triiodothyronine, total and free thyroxine were measured on the first, seventh, and twenty-first days (cohort I), and at the age of 7 (cohort II). In respect of used antiseptics, the patients were divided into 2 groups. The evaluation of patients was performed according to the Turgay Diagnostic and Statistical Manual for Psychiatric Disorders, 4th edition based child and adolescent behavior disorders screening and rating scale. RESULTS: On the seventh day of life, iodine-exposed newborns had significantly higher mean thyrotropin levels and lower free thyroxine, total thyroxine, and triiodothyronine levels. On the twenty-first day, thyrotropin levels of iodine-exposed newborns were similar to controls. The cohort II results showed normal thyroid function in all patents with increased hyperactivity among children born prematurely, and particularly experienced exposure to iodine. CONCLUSION: Iodine excess may cause transient hypothyroxinemia in preterm babies (>30 weeks gestational age, >1.5 kg) and this may be one of the reasons for behavior problems observed later in these children.

Assessment of myocardial involvement using cardiac troponin-I and echocardiography in rheumatic carditis in Izmir, Turkey.

BACKGROUND: Acute rheumatic carditis is still a major problem in developing countries. Cardiac troponin-I (cTnI) has been identified as a sensitive and specific marker in the diagnosis of myocarditis in children and adults. METHODS: A prospective study was performed using Doppler echocardiography and cTnI in order to detect myocardial involvement in 26 consecutive patients with acute rheumatic valvular disease. Patients were divided into two groups: group 1, rheumatic fever with carditis (n > 16); group 2, rheumatic fever without carditis (n > 10). RESULTS: Clinically age, gender, body temperature, heart rate and white blood count did not differ significantly between the groups and the age-matched control group. C-reactive protein, erythrocyte sedimentation rate, anti-streptolysin-O were significantly different. Left ventricular fractional shortening was normal in all patients (group 1, 37 +/- 10%; group 2, 34 +/- 5%; NS). Left ventricular dimensions were larger in group 1, in which all patients except two had moderate to severe mitral and/or aortic valvular regurgitation (5.05 +/- 0.75 cm/m(2)) compared to group 2, in which none had valvular regurgitation (3.27 +/- 0.26 cm/m(2), P < 0.05). None of the patients in either group presented with or developed pericarditis. Mean cTnI was 0.12 +/- 0.034 ng/mL in group 2 and 0.077 +/- 0.02 in group 1, the difference of which was not statistically significant. Neither significant cTnI elevations nor echocardiographic systolic function abnormalities were found in the present patients with rheumatic carditis. CONCLUSIONS: The present results indicate the absence of myocardial involvement in acute rheumatic carditis without congestive heart failure.

Properdin deficiency in a boy with fulminant meningococcal septic shock.

UNLABELLED: Bacterial meningitis is a rare presentation for congenital immunodeficiency, but meningococcal invasive diseases and meningitis have been associated with late complement component deficiencies and properdin deficiency. A 5-y-old boy of non-consanguineous parents was admitted to our hospital with meningococcal septic shock. He had previously been suffering from recurrent respiratory infections. His 13-y-old brother had also been treated for meningococcal meningitis when he was 7 y old. Immunological studies, done after recovery, on the patient and his two brothers revealed normal immunoglobulin, IgG subclasses, C3, C4 and CH50 levels. Haemolytic activity of the alternative complement pathway could not be detected, and properdin concentrations were <0.01 mg/l in serum samples from the patient and his brothers. The patient and family members received quadrivalent polysaccharide meningococcal vaccine. The patient was discharged on penicillin prophylaxis, and he remained healthy during the ensuing year. CONCLUSION: Our findings stress that measurement of the haemolytic activity of the alternative complement pathway in addition to classical pathway haemolytic complement activity should be performed in patients with meningococcal disease to reveal various forms of complement deficiency. This is particularly important when there is a family history, or recurrences or infection due to uncommon serogroups. Deficient individuals and affected family members might be protected from infection by vaccination.

Fulminant amoebiasis in a child with recurrent multiple amoebic liver abscesses and pleuropulmonary complications.

A 5-year-old boy with recurrent liver abscesses and pleural empyema, presumed to be amoebic, is described. Despite surgical drainage of the liver and thoracic wall combined with metronidazole and chloroquine, he died 7 weeks after admission.