ABSTRACT
This study was done to detect cases of silent and clinically overt strokes in children with sickle cell anemia [SCA] either in the steady or thrombotic crisis states as well as to evaluate the role of some laboratory and genetic parameters as predisposing factors for development of stroke including: fibrin peptide-A [FPA], thrombinantithrombin 111 complex [TAT], fibrin degradation products [D dimer], platelet endothelial cell adhesion molecule-l [PECAM-1] and molecular genetic study of the angiotensin converting enzyme [ACE] gene polymorphism. The study included 20 children with SCA diagnosed clinically, hematologically and confirmed by hemoglobin electrophoresis. They were divided into two groups, group I; included 10 children with SCA in steady state and group PI; included 10 SCA children in thrombotic crisis. Another 10 healthy children with matched age and sex were taken as a control group. All the studied groups were subjected to full clinical examination, measurements of: FPA, TAT, D-dimer and PECAM-1 as well as molecular genetic study of the ACE gene polymorphism. Brain computed axial tomography [CT] scan and/or magnetic resonance imaging [MRI] as well as electro-encephalographic studies [EEG] were done only for patient groups. Results showed that silent ischemic brain infarction evidenced only by CT scan and/or MRI was present in one patient in group I [10%] and one patient in group II [10%]. On the other hand, two patients in group II [20%] were presented by clinically overt strokes. Thus, according to the presence or absence of stroke either silent or clinically overt there were stroke group [4 children] and non-stroke group [16 children]. Laboratory results showed that the levels of FPA, TAT, D-dimer and PECAM-1 were significantly elevated in SCA patients both in the steady and crisis states as compared to control, with more evident significant elevation in group I1 [thrombotic crisis] as compared to group I [steady state]. Stroke group showed significant elevation in all the studied parameters; FPA, TAT, D-dimer and PECAM-1 as compared with non-stroke group. The molecular study results showed that the frequencies of both DD genotype and D allele of ACE gene in the thrombotic crisis were significantly higher than in the control group and that all stroke group children are of DD genotype. In conclusion; significant increase in FPA, TAT, D-dimer and PECAM-1 levels as well as the presence of ACE D allele of the ACE gene are significant predisposing factors for stroke in children with SCA either in the steady or in the crisis states which may recommend regular follow-up by thorough neurological examination and neuro-imaging studies for early detection of silent brain infarction as well as the preventive use of effective therapies as repeated blood transfusion and bone marrow transplantation
ABSTRACT
This study was done to detect cases of silent and clinically overt strokes in children with sickle cell anemia [SCA] either in the steady or thrombotic crisis states as wed as to evaluate the role of some laboratory and genetic parameters as predisposing factors for development of stroke including: fibrin peptide-A [FPA], thrombin-antithrombin Ill complex [TAT], fibrin degradation products [D-dimer], platelet endothelial cell adhesion molecule-I [PECAM-1] and molecular genetic study of the angiotensin converting enzyme [ACE] gene polymorphism. The study included 20 children with SCA diagnosed clinically, hematologically and confirmed by hemoglobin electrophoresis. They were divided in to: group I; included 10 children with SCA in the steady state and group II; included 10 SCA children in thrombotic crisis. Another 10 healthy children with matched age and sex were taken as a control group. A!! the studied groups were subjected to full clinical examination, measurements of: FPA, TAT, D-dimer and PECAM-1 as we1 as molecular genetic study of the ACE gene polymorphism. Brain computed axial tomography [CT] scan and/or magnetic resonance imaging [MRI] as well as electroencephalographic studies [EEG] were done only for patient groups. Results showed that silent ischemic brain infarction evidenced only by CT scan and/or MRI was present in one patient in-group I [10%] and one patient in-group II [10%]. On the other hand, two patients in-group II [20%] were presented by clinically overt strokes. Thus, according to the presence or absence of stroke [either silent or clinically overt] there were stroke group [4 children] and non-stroke group [16 children]. Laboratory results showed that the levels of FPA, TAT, D-dimer and PECAM-1 were significantly elevated in SCA patients both in the steady and crisis states as compared to control, with more evident significant elevation in group II [thrombotic crisis] as compared to group I [steady state], Stroke group showed significant elevation in all the studied parameters; FPA, TAT, D-dimer and PECAM-I as compared with non-stroke group. The molecular study results showed that the frequencies of both DD genotype and D allele of ACE gene in the thrombotic crisis were significantly higher than in the control group and that all stroke group children are of DD genotype. In conclusion; significant increase in FPA, TAT, D- dimer and PECAM-1 levels as well as the presence of ACE D allele o! the ACE gene are significant predisposing factors for stroke in children with SCA either in the steady or in the crisis states which my recommend regular follow-up by thorough neurological examination and neuro-imaging studies for early detection of silent brain infarction as well as the preventive use of effective therapies as repeated bloi3d transfusion and bone marrow transplantation
ABSTRACT
This study was done to investigate the role of some risk factors for development of peripheral neuropathy in children and young adolescents with type I diabetes mellitus [type I DM]. Diabetic patients were divided into three groups: Group I included 10 diabetic patients with clinically and electrophysiologically evident peripheral neuropathy. Group II included 20 diabetic patients with subcIinicaI peripheral neuropathy evident only by measuring the motor nerve conduction velocity [MCV], and Group III included 30 diabetic patients with neither clinical nor subclinical peripheral neuropathy. The patients included were 33 females and 27 males, their age ranged from 5-20 years. Ten normal healthy individuals of matched age and sex served as a control group [Group IV]. All the studied groups were subjected to full clinical and neurological examination, measuring [MCV] of the common peroneaI and median nerves, estimation of egcosyIated hemoglobin level [HbA1c], assay of erythrocyte superoxide dismutase [SOD] as well as molecular genetic study of the manganese superoxide dismutase [MnSOD] gene polymorphism. Our results showed a significant increase in HbA1c level and a significant decrease' In SOD level as well as MCV of common peroneaI and median nerves in group I and group II as compared with group III and group IV. There were significant negative correlations between HbA1c when compared with SOD and MCV as well as signiticant positive correlations between SOD levels and MCV in all the diabetic groups. The frequencies of Ala allele and the AIa/Ala genotype of the Mn-SOD gene were significantly lower in neuropathic diabetic patients. In contrast, the Val allele and VaWaI genotype were significantly more frequent in neuropathic diabetic patients than in diabetic subjects without peripheral neuropathy
Conclusion: EIectrophysioIogicaI studies should be done in all type-I diabetic patients regardless their age or duration of the disease for early diagnosis and following the progression of diabetic neuropathy before start of clinical manifestations [subcIinicaI peripheral neuropathy]. Poor glycemic control, low levels of the key antioxidant enzyme SOD, and the Val allele with Ala/ VaI genotype of the Mn-SOD gene Were signiticant risk factors for the development of diabetic neuropathy in type 1 diabetic patients which may necessitate appropriate support for enhancing antioxidant supply to act against the rapid onset and progression of diabetic neuropathy, by reducing the excess of oxygen free radicals [OFR] and peroxide
ABSTRACT
Is to evaluate the fundus and central visual field changes in patients with diabetic papillopathy after long term follow up. Twelve patients [14 eyes] with diabetic papillopathy were followed up for at least 3 years. Full clinical ophthalmological evaluation, colour fundus photography, fluorescein angiography and central automated perimetry were repeatedly performed initially and at specific intervals. All eyes presented with hyperemic optic' disc edema and minimal or no evidence of optic nerve dysfunction. Within 3-12 months, the optic disc edema completely resolved. At 1 year and later on, pallor and hypofluorescence of the optic disc and peripapillary choroidal atrophy were observed in 12 eyes. In central perimetry, enlarged blind spot only or in association with scattered scotomata was initially seen in most eyes. At 1 year, recovery of the previously detected field defects was seen in most eyes, but persistent minor defects were seen in few eyes. At 2 year and later on, inferior altitudinal and superior arcuate field defects with marked depression of the retinal sensitivity were more commonly seen. Inferior arcuate defect and superior scattered scotomata with moderate reduction of the retinal sensitivity were less commonly noticed. In all eyes, the central 5-100° were preserved. These visual field defects were not associated with corresponding retinal or significant tonometric changes. -Diabetic papillopathy may not be as benign as described before, and an ischemic factor may play a role in its pathogenesis