Study of cardiac abnormalities in children with Gaucher disease

Gaucher disease is the most prevalent lysosomal storage disease which results from inherited deficiency in the glucocerebrosidase enzyme. Three main clinical forms have been described, type I non-neurophatic, type II acute neuropathic and type III subacute neuropathic [1]. In this study, we present specific characteristics, as well as our experience in diagnosing the cardiac abnormalities in a group of Egyptian patients with this disease. The study included 22 patients with Gaucher disease attending Children's Hospital, Alexandria University. The recombinant enzyme imiglucerase [cerezyme] was given in a dose of 60 IU/kg/2 weeks [2]. Hemoglobin, plasma chitotriosidase and abdominal ultrasound were assessed before starting therapy and every 6 months. Molecular analysis was done to 17 patients. At presentation, the mean age was 7.94 +/- 6.26 years. 6 patients [27.2%] had type I, 16 patients had type III Gaucher disease [72.7%]. The commonest genotype was homozygous L444P which was present in 11 patients [50%] followed by homozygous D409H found in three patients [13.6%]. Gaucher's disease leads to deposition of glucocerebrosides in various organs. Recently, type IIIC Gaucher's disease, homozygous for the D409H mutation, has been identified; this is an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves[3]. In this study the cardiac evaluation through clinical examination and investigations of the cases revealed that [50%] had positive cardiac findings

Validity of clinical versus genetic study for identification of the fragile X syndrome

Fragile X syndrome is the most common cause of idiopathic X linked mental retardation among boys. It presents several diagnostic problems due to variable clinical features. Inconsistencies also exist in both cytogenetic and molecular markers. This study was conducted on 100 males referred for mental retardation of unknown cause at the Alexandria University Children's Hospital with an age three years and older. The study population was screened for clinical detection of Fragile X syndrome using Ten-item checklist. Patients with positive checklist were subjected to cytogenetic analysis to detect the fragile site on X chromosome and molecular analysis for detection of the altered DNA sequence using polymerize chain reaction [PCR].The patients' ages ranged 3-14 years with a mean of 5.99 +/- 2.68 years. Their IQs ranged 33-85 with a mean of 60.22 +/- 14.05. Out of the 100 males, 22 cases scored positive on the checklist. The most frequent clinical characteristic was hyperactivity [50%] and the least frequent was macro-orchids [2%]. Cytogenic analysis was positive for the fragile site at Xq 27.3 for four cases [18.2%] and negative for 18 cases [81.8%].PCR was positive [more than 200 CGG repeats] for 7 cases [31.8%] and negative for 15 cases [68.2%]. Also, there was a highly significant correlation between the score of the checklist and the positivist of both tests [P=0.01 for each test]. In conclusion, pre-test selection based on clinical criteria is useful to identify high-risk groups and minimizes the cost-effectiveness of both cytogenesis and molecular laboratory testing of fragile X syndrome. Combination of behavioral and physical characteristics is valuable especially in pre-pubertal cases

Blastocystis hominis among infants and preschool children in an urban and a rural area in Alexandria

Blastocystis hominis is now gaining acceptance as an agent of human intestinal disease. This case-control study of the prevalence of B. hominis infection in children less than 6 years old was conducted in an urban area and a rural area in Alexandria. A total of 600 stool samples were examined by wet mount preparation, Merthiolate iodine Formaldehyde concentration technique and permanent staining by using modified Ziehl Neelsen and trichrome stains. The difference between the prevalence of B. hominis in infants and preschool children from an urban area [20.33%] was not significantly different from that in a rural area [24%]. The most common clinical manifestations of B. hominis infection were diarrhea, abdominal pain, fever and vomiting. B. hominis was found in 85 [28.33%] of 300 stool specimens of cases with diarrhea and in 48 [16%] of 300 control specimens. Seventy cases [82.35%] of diarrhea had heavy infection [>5 organisms/20 HPF]. The presence of diarrhea with B. hominis infection was more common in boys aged from one to six years, in severely malnourished cases and in areas with no sewage system and in absence of in-house piped water supply. Contaminated water was suspected to be the major source of infection, since several cases were associated with Giardia infection. These findings support the concept of B. hominis pathogenicity in children with diarrhea

Ocular changes in insulin-dependent diabetic patients: risk factors

This work aimed at finding out the frequency of different ocular changes in insulin dependent diabetic patients and the relation - if any- between the present abnormalities and some of the suggested risk factors. The study was carried out on 40 insulin dependent diabetic patients ranging in age between 6.5 and 2 4 years and 10- age and sex- matched non-diabetic persons taken as control. Fifty percent of the studied eyes of diabetic patients had at least one abnormality. The presence of non-leaking microaneurysms was the most frequently observed one [52.5%], followed by conjunctival microvascular abnormalities [25%], then premature detachment of vitreous [22.5%] and leaking microaneurysms [22.5%]. Ocular changes were significantly more frequent among older diabetic patients [>/= 15 years of age], diabetics with longer duration of the disease [>4 years], and those with uncontrolled diabetic state [HbA1c >/= 8.75%]. Diabetic children less than 15 years of age who developed ocular abnormalities had significantly higher serum levels of triglyceride [TG] and very low density lipoproteins [VLDL] than those with no ocular changes. Diabetic patients aged more than 15 years, with ocular abnormalities, had significantly higher glycosylated hemoglobin [HbA[1c]] concentrations and longer duration of diabetes mellitus. It was concluded that the long-term glycemic control and the duration of diabetes mellitus were the major risk factors for the development of ocular changes among diabetics

Antioxidants and pancreatic beta-cell function in malnourished infants a causal relationship

The study was carried out on 30 infants between 6 and 24 months of age. They were equally divided into age and sex matched three groups of normally growing infants, marasmus, and kwashiorkor cases. Fasting levels of blood glucose, C-peptide, zinc, and vitamins A, E, and C were estimated. Blood glucose and C-peptide levels were serially estimated 1/2 and 2 hours after IV administration of 10 ml/kg of glucose 10% given as a bolus. None of the malnourished cases developed fasting hypoglycemia. Malnourished infants showed a postprandial diabetic- like curve after IV glucose challenge test concomitant with inappropriate increase in C- peptide secretion. They had also a significantly lower C- peptide /glucose ratio than the normally growing infants. Malnourished cases had a lower serum levels of zinc, vitamins A, E, and C. The glucose intolerance- manifested by low C-peptide /glucose ratio- was more evident among kwashiorkor cases who had also significantly lower levels of serum zinc and vitamin A than cases of marasmus. We suggested an association between glucose intolerance, poor cell response to IV glucose challenge test and the low serum levels of the antioxidants- zinc, vitamins A, E, and C among malnourished infants especially kwashiorkor cases that showed significantly lower results