Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria

Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway. Most porphyria symptoms are nonspecific and occur intermittently; resulting frequently in missed diagnosis since the disease itself is a rare one. The aim of the study is to establish a new reliable and accurate laboratory method for separation, identification and quantitation of urinary porphyrins by liquid chromatography tandem mass spectrometry [LC/MS/MS] and thereby the diagnosis of different porphyria types for the first time in Egypt. Screening by plasma fluorescence and quantitative determination of urinary porphyrins by high performance liquid chromatography electrospray ionization tandem mass spectrometry [HPLC/ESI/MS/MS] of 50 clinically suspected patients revealed one case of variegate porphyria and five cases of porphyria cutanea tarda. Plasma fluorescence scanning is a simple procedure that can be used as screening test to detect porphyria patients that require quantitation of urinary porphyrins as a second step. Quantitative determination of urinary porphyrins using HPLC/ESI/MS/MS and ion mapping techniques are applicable for the differential diagnosis of porphyria types, since each type has a characteristic porphyrins excretion profile. Quantitative determination of urinary porphyrins by HPLC/ESI/MS/MS used in this study is a modification for the method Stoev et al. while ion mapping technique is a new technique invented by the research team at the Biochemical Genetics Department

Suitability of soluble transferrin receptor for the clinical diagnosis of different types of anaemia in children

We evaluated the ability of serum transferrin receptor [sTFR] to identify different types of anaemia in children. Thus 150 Egyptian children suffering from anaemia [iron deficiency anaemia, anaemia of chronic disease and beta-thalassaemia] were enrolled, together with 50 controls. There was a significant increase in the mean levels of sTFR in the groups with iron deficiency anaemia and thalassaemia, and a significant decrease in mean sTFR levels in the group with anaemia of chronic disease. Serum ferritin levels were significantly higher in all patient groups except the group with iron deficiency anaemia. There were also significant correlations between the sTFR and sTFR/log ferritin ratio [sTFR-F index] and different indices of iron status and of erythropoiesis. The sTFR-F index could be used as a diagnostic or screening tool for iron deficiency anaemia, anaemia of chronic disease and thalassaemia

Ventricular arrhythmias and arrhythmia substrate in patients with chronic hemolytic disorders with hemosiderosis

Twenty patients with one of the thalassemia syndromes on regular blood transfusion and ten matched controls were subjected to clinical assessment, 12 lead ECG, serum ferritin level [FER], hemoglobin level [HB], serum electrolytes, echo Doppler examination, signal averaged ECG [SAECG] and 24 hours Holter monitoring. The results indicated that supraventricular and ventricular arrhythmias were much more common in patients group than control group; patients showed higher FER level, lower HB level but no significant difference in serum electrolytes. They also showed larger left ventricular and diastolic and end systolic diameters with no significant difference in ejection fraction. Corrected QT interval was longer in the patients group. SAECG was positive for late potentials in 20% of patients vs no one in the control group. Patients with late potentials [Gp A] were compared with patients with normal SAECG [Gp B]. Multiple regression analysis showed that older age, positive SAECG and lower ejection fraction, respectively, predict the occurrence of higher grades of arrhythmia. Patients with chronic hemolytic disorder on regular blood transfusion frequently had significant arrhythmias. High grade arrhythmias are more encountered with older age, presence of late potentials and lower left ventricular function

Estimation of blood lead level in Egyptian children

Blood lead level was estimated in a sample of 222 non symptomatizing Egyptian children with ages ranging between 28 months and 14 years using atomic absorption spectrophotometry. The results were analyzed versus the known factors such as socioeconomic level, pica behavior, usage of newspapers, cans, heaviness of traffics, parent's occupation, dusty surroundings, presence of nearly factories and the age of home paints

reliability and validity study of a rating scale for attention deficit hyperactivity disorder in Egyptian children and adolescents

The Conners Parent-Teacher Rating Scale has been used widely in assessment and treatment studies of Attention Deficit Hyperactivity Disorder [ADHD] and proved to be of high reliability and validity. This study reports on the reliability and validity of the Arab version of Conners Rating Scale as used by parents, teachers and other raters in three different groups of Egyptian children and adolescents. A healthy group of normal preschoolers, a medically referred group of children, and a group of children and adolescents with the diagnosis of ADHD. Test-retest and inter-rater reliability were analyzed. The high digrees of reliability for the normal preschoolers [r=0.96] and the ADHD group [r=0.64 and 0.68] in contrast to the medically referred group [r=0.53] are discussed. It is emphasized that such a scale should be under no circumstances used as a means for diagnosing ADHD in children, rather it should be viewed as providing additional data that may facilitate the interpretation of other clinical material and assist in the assessment of treatment efficacy