retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

Background: Although inborn errors of metabolism [IEM] are rare individually, collectively IEM cause substantial morbidity and mortality and the diagnosis is challenging.

Aims: To analyse epidemiological and clinical data, final diagnosis and clinical outcomes of patients with a suspected diagnosis of IEM [small molecule disorders type] admitted to a paediatric intensive care unit [PICU].

Methods: We collected and analysed medical records data of all patients admitted to the PICU at Alexandria University Children's Hospital, from January 2010 to December 2014, with a suspected or confirmed diagnosis of small molecule disorders, including clinical presentations, laboratory results and clinical outcomes.

Results: A total of 34 patients had a suspected or confirmed diagnosis of small molecule disorders at PICU admission. Diagnosis was confirmed in 22.7% of suspected cases at admission and in 25% of suspected cases during PICU stay. Consanguineous marriage was found in 50% of cases with confirmed small molecule disorders.

Conclusions: A high index of suspicion is important for diagnosing and categorizing small molecule disorders in screening of high-risk individuals in low- and middle-income countries

Therapeutic trial of effective erythropoietin suppression in children affected with beta-thalassemia major: a three-year follow-up

A Three-year follow up study was conducted on 45 regularly transfused beta-thalassemic children; 23 of them were also given captopril therapy [6.25-12.5mg b.i.d.]. The aim was to evaluate the efficacy of captopril in inducing more effective suppression of erythropoiesis. Twenty age and sex matched controls were included at the end of study. All thalassemics were evaluated for their blood pressure [BP], hemoglobin [Hb], blood urea, serum creatinine, alkaline phosphatase, alanine aminotransferase, reticulocytic index [RI], serum ferritin, serum erythropoietin [sEpo] and serum transferrin receptors [s Tfr]; at the start and at the end of the study. Results showed that subjects given captopril, after 3 years therapy, had lower sEpo, sTfr and RI [31, 9, and 1.41 versus 60 mU/ml, 16 microg/ml, 2.3 respectively]; less incidence of splenomegaly [39 versus 77%]; higher height velocity and weight values; compared to thalassemics without captopril therapy [P<0.05]. Captopril used in regularly transfused beta-thalassemics could induce better suppression of endogenous erythropoiesis with reasonable cost, fair compliance and no side effects

Study of bacterial, viral and fungal agents affecting pediatric patients with lower respiratory tract infection admitted to PICU in Alexandria

This prospective study included all patients with acute lower respiratory tract infections [LRTI] admitted to the Pediatric Intensive Care Unit [PICU], in Alexandria, from December 1999 till the end of February 2001. PICU nosocomial infections were excluded. The pediatric risk of mortality score [PRISM] and number of organ failure, on admission, were recorded. Nasopharyngeal swabs and endotracheal aspirates were obtained on admission for viral, bacterial, chlamydial and fungal detection. Disc diffusion antimicrobial susceptibility tests using 15 different antibiotic discs for isolated bacteria, were performed. Results showed that LRTI admissions represented 11.8% [55/465] with Pneumonias representing 89% of them. The mortality rate was 43.6%. Pathogen identification was successful in 91% of cases. Nine different bacteria, with Pseudomonas aeruginosa the commonest [29.1%] and Acinetobacter spp. the least common [1.8%], were isolated. Five different viruses, with respiratory syncitial virus [RSV] the commonest [12.7%], were identified. Chlamydia pneumoniae and Candida albicans were detected in 40% and 9% of cases respectively. Multiple / mixed infection represented 58% of cases. Antibiogram showed that, the most resistant isolates to all 15 antibiotics used were pseudomonas aeruginosa [0/15] followed by Klebsiella and Acinetobacter [1/15] while, the most sensitive were H. influenzae and M. catarrhalis [9/15], followed by pneumococci [8/15]. It showed also that the most effective antibiotic, in vitro, was ciprofloxacin affecting 6 out of 9 isolated bacteria [6/9] followed by ofloxacin [5/9]; the least effective were ampicillin and amoxicillin clavulinate [0/9]. The PRISM score and number of patients with multiple organ dysfunction syndrome [MODS], on admission, were significantly higher among non-survivors. A multiple logistic regression analysis revealed that PRISM score, on admission, was the only significant parameter in mortality prediction with an overall accuracy of 89% and it did not correlate neither with age [r = - 0.0872] nor with length of hospital stay [LOS] [r = -0.0622]. LRTI admissions to PICU showed high PRISM score, MODS, high percentage of multiple / mixed pathogens, remarkable in vitro resistance of bacteria to antibiotics and high mortality rate. Pre-ICU pediatric medical services should be improved