[Show abstract][Hide abstract] ABSTRACT: Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.
Neurologia i neurochirurgia polska 09/2013; 47(5):493-8. DOI:10.5114/ninp.2013.38229 · 0.54 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: 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.
[Show abstract][Hide abstract] ABSTRACT: OBJECTIVE: We aimed to establish the characteristics of anaphylaxis in childhood. METHODS: Forty-four patients who had experienced anaphylaxis in a period of 10 years (from 1999 to 2009), were included in the study. Parameters analysed were age, gender, concomitant allergic disease, trigger, setting, clinical symptoms, treatment, prognosis and prophylaxis. RESULTS: The total numbers of anaphylaxis cases were 44 in a ten-year period. The ages of patients ranged from 3 to 14 years (11.50±3.87 years) and the majority were male. 33 of the patients (75%) had a concomitant allergic disease. The trigger was determined in 93.2% of the cases, being most frequent: food (27.3%), and SIT (25%), followed by bee sting, medications and others. Respiratory (95.5%), dermatological (90.9%), cardiovascular (20.5%), neuropsychiatric (25%), and gastrointestinal (11.4%) symptoms were seen most frequently. For anaphylaxis triggered by food, the duration of anaphylactic episode was significantly longer (p<0.05). No biphasic reaction was observed during these attacks. Of our patients, only one developed respiratory failure and cardiac arrest due to SIT, and intensive care support was required. DISCUSSION: As a trigger for anaphylaxis, the frequency of SIT is so high that it cannot be described by the study group including patients who were followed up in an outpatient allergy clinic.
Allergologia et Immunopathologia 10/2012; 41. DOI:10.1016/j.aller.2012.04.011 · 1.58 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: 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.
American Journal of Medical Genetics Part A 07/2012; 158A(7):1686-9. DOI:10.1002/ajmg.a.35371 · 2.05 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: 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.
[Show abstract][Hide abstract] ABSTRACT: This study was undertaken to assess the value of neutrophils CD11b, CD64, and CD62L for the early diagnosis of neonatal infection.
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.
The expressions of CD64 and CD11b were significantly enhanced in the infection group compared to the non-infective group and the controls.
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.
World Journal of Pediatrics 08/2011; 8(1):72-5. DOI:10.1007/s12519-011-0304-6 · 1.05 Impact Factor