ABSTRACT
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
ABSTRACT
Obesity is a common and increasing problem all over the world. It has deleterious effects on many organ systems especially on the cardiovascular system. Dyslipidemia is the basic underlying factor for arteriosclerosis. Soluble adhesion molecules are suggested to play a role in early stages of thermogenesis. The aim of this study was to investigate the changes in serum lipids, fasting blood sugar, blood pressure and echocardiographic findings in obese children and to determine which of the currently applied clinical parameters for assessment of childhood obesity best predicts these changes. The study aimed also to investigate whether the soluble adhesion molecules, slCAM-1 and sVCAM-1, are related to the serum lipid profile in obese children. The study was carried out on 36 obese children. Their age ranged from 7 to 13 years [mean = 8.78 +/- 7.58 years]. Twenty-two normal non-obese children were included as a control group. Obesity was defined as BMI above 95" percentile for age and sex. Anthropometric measurements [including weight, height, waist circumference, hip circumference, mid- arm circumference, and triceps skin fold thickness], and blood pressure were measured. Fasting blood sugar and serum lipids [triglycerides, total cholesterol, HDL-C, LDL- C] were determined colorimetric ally, while serum soluble adhesion molecules slCAM-1 and sVCAM-1 were determined by ELlSA technique. Echocardiographic examination was done for each child. The results showed that obese children had significantly higher systolic and diastolic blood pressure [119.4, 79.5 vs. 110.8, 69.6 mm Hg], fasting blood sugar [78.1 vs. 66.9 mg/dL], triglycerides [103.5 vs. 83.6 mg/dL], and total cholesterol [159.9 vs. 136.5 mg/dL], but had significantly lower HDL-C [62.06 vs. 73.75 mg/dL] respectively than control children did. Obese children had significantly increased left ventricular posterior waN thickness [0.92 vs. 0.59 mm], interventricular septum thickness [7.02 vs. 0.59 mm], left ventricular end-diastolic dimension [4.03 vs. 3.78 mm] and ejection fraction [70.6% vs. 68.1%] compared with normal children. BMI was the best obesity parameter that correlated well with most of the cardiovascular risk factors [r ranged from .39 to .76]. Waist and mid-arm circumferences were still good parameters correlating with cardiovascular risk factors. Serum levels of SICAM-1 and sVCAM-1 were correlated with triglycerides levels [P=4.04 and 0.02], while sVCAM-1 levels were negatively correlated with HDL-C [P = 0.006]. So adhesion molecules may play a role in early atherogenesis secondary to dyslipidemia. Preventive and therapeutic measures are highly needed to control childhood obesity and its complications. Additional studies are clearly needed to establish normal values for adhesion molecules in childhood to allow the identification of children who would be mostly benefited by the implementation of preventive and therapeutic programs to decelerate the evolution of atherosclerotic process
ABSTRACT
Perinatal hypoxia is a major risk factor for abnormal outcome in the neonatal period. Despite the potential severity and prevalence of this condition, the diagnosis is usually based on nonspecific clinical criteria. Identifying the extent of hypoxic insult is necessary to provide medical management that optimizes the medical and neurologic outcome. During hypoxia, reactive oxygen species cause lipid peroxidation of cell membrane, yielding oxidative products, the most abundant product being malondialdehyde [MDA]. The objective of this study was to investigate the concentration of malondialdehyde excreted in urine during the first day of life in term infants following acute hypoxia, and to demonstrate to what extent it would be correlated with other parameters of perinatal hypoxia. The study was conducted on twenty-four full term infants with acute perinatal hypoxia admitted to Neonatal Intensive Care Unit. Diagnosis of asphyxia was based on Apgar score < 5 at 5 minute and arterial cord blood pH < 7.2. Sixteen normal non-hypoxic full term infants were included as a control group. All newborns were subjected to detailed history and clinical examination, umbilical cord arterial bIood gases determination and cranial ultrasonographic examination. Urinary malondialdehyde was deterrminated in urine samples collected on the first day of life by measuring thiobarbituric acid-reacting substances levels using a spectrophotometric assay. The results proved that urinary MDA levels were significantly higher on hypoxic infants [8.11 +/- 3.92 ng/mg creatinine] compared to normal infants [5.53 +/- 2.97 ng/mg creatinine - P= 0.031]. Hypoxic infants with meconium in amniotic fluid, who needed resuscitation immediately after birth, those who developed hypoxic ischemic encephalopathy, and those with persistent cranial ultrasonographic findings had significantly higher urinary MDA levels than hypoxic infants without these risk factors [P= 0.028, 0.035, 0.01 and 0.015 respectively]. Significant correlations were found between urinary MDA levels and one-minute [r = 0.441] and five-minute Apgar scores [r = 0.537], but not with umbilical arterial blood pH [r = 0.332]
Conclusion: Determination of urinary malondialdehyde [by measuring thiobarbituric acid-reacting substances] in the first day of life provides a reliable, easy and early marker of the severity of acute perinatal hypoxia. Further studies are needed to show its value in prediction of the long-term outcome of birth asphyxia
ABSTRACT
Acute painful episodes represent the most frequent and prominent manifestation of sickle cell disease. Vasospasm and inflammation might play important roles in the pathophysiology of pain crisis. Endothelin-1, which is a vasoconstrictor peptide released from damage of endothelial cells in homozygous sickle cell disease [SS disease], may play a role during crisis. Inflammatory events as cytokine production and adhesion molecular expression may also occur. The present study was designed to investigate plasma levels of endothelin-1 and interlukin-1Beta [proinflammatory cytokine] in asymptomatic sickle cell disease and during pain crisis. The study included 20 children with homozygous sickle cell anemia admitted for painful crisis. Fifteen age and sex matched children were included as a control group. Blood samples were collected from controls and from patients on the first day of crisis and then 4 weeks later [steady state]. Plasma levels of endothelin-1 [ET-1] and interlukin-1Beta in patients' and control samples were determined using commercially available enzyme-Iinked immunosorbent assay [ELISA]. The results showed that plasma ET-1 levels were significantly elevated relative to healthy controls [1.5235 +/- 0.939 pg/ml] in both patients in acute pain crisis [81.9 +/- 44.4 pg/ml] and those after crisis [15.97 +/- 6.96 pg/ml]. Meanwhile, plasma interlukin-1B [IL-1B] levels were not significantly different between normal controls [148.75 +/- 39.31 pg/ml] and patients during painful crisis [139.8 +/- 44.3 pg/ml] or after crisis [144.8 +/- 17.4 pg/ml]
Conclusion: Endothelin-1 could contribute to both the prolonged vasospasm and to inflammation in acute painful sickle cell crisis and that endothelin antagonist strategies might have utility in the treatment of this complex disorder. A direct role for IL-1Beta in the pathogenesis of vascular occlusion in sickle cell disease could not be demonstrated, but an indirect role was not excluded
ABSTRACT
Impaired growth involving both height and weight accompanying thalassemia major poses diagnostic and therapeutic problems. We undertook this study to test the hypothesis that this impaired growth might be corrected, partially or totally, by increasing caloric intake of these patients to compensate for their hypermetabolic status accompanying their anemia and bone marrow hyperactivity. Thirty randomly selected children with thalassemia major were studied. The dietary intake of the thalassemic patients, evaluated by the recall method, appeared to be adequate compared to 30 normal age-matched children. Nutritional status was assessed by measuring the weight, body mass index [BMI], mid-arm circumference [MAC], triceps skin fold thickness [SFT] and serum albumin and insulin-like growth factor-I [IGF-I] concentrations of before and after 8 weeks of high-caloric diet [130-150% of the caloric recommendation for age and sex]. The BMI, triceps SFT and MAC of children with thalassemia were significantly decreased compared to those for the normal control group. IGF-I and albumin concentrations of thalassemic children [69 +/- 20.5 ng/m and 3.65 +/- 0.67 g/dl respectively] were significantly lower than those for normal age-matched children [162.5 +/- 24 ng/ml and 4.29 +/- 0.66 g/dl respectively]. After nutritional supplementation for 8 weeks the MAC, SFT and BMI of the thalassemic children increased significantly [p < 0.05]. Serum IGF-I [84.3 +/- 27.3 ng/ml] and albumin concentrations [3.85 +/- 0.85 g/dl] increased significantly in the thalassemic group after versus before nutritional supplementation however, they were still lower than those for normal children. It appears that the hypermetabolic status of children with thalassemia contributes to their decreased IGFúI synthesis in these patients with subsequent slowing of linear growth and weight gain. Increased caloric dietary intake increased significantly IGF-I synthesis in these patients. This was accompanied with increased BMI, mid-arm circumference and skin fold thickness. Growth impairment of children with thalassemia major, without endocrinopathy and/or cardiomyopathy, can be partially correctable by increasing caloric intake to compensate for their hypermetabolic status