Parathyroid hormone in pediatric patients with b-thalassemia major and its relation to bone mineral density; a case control study

Background: Thalassemia syndromes are heterogeneous groups of inherited anemias. Its treatment depends on recurrent blood transfusion with a problem of iron overload, which leads to multiple endocrinopathies including hypoparathyroid. The aim of the study is to estimate the level of serum parathyroid hormone and its relation to bone mineral density in transfusion dependent beta-thalassemia major children

Subjects and methods: We measured serum calcium, phosphorus and parathyroid hormone in a sample of pediatric patients with thalassemia, compared them with age and sex matched healthy control. Measurement of bone mineral density by dual-energy X-ray absorptiometry was done in 2 sites: lumbar spine [L2-L4] in the anteroposterior position and left femur neck using Lunar Densitometry in osteoporosis Unit Ain Shams University Hospital for thalassemia patients

Results: Thalassemic patients had significantly higher alkaline phosphatase and lower bone mineral density

Conclusion: Osteopenia in b-thalassemia major patients is multifactorial and is mainly predisposed by defective function of the parathyroid gland and excessive iron deposition

Null genetic risk of ACE gene polymorphisms with nephropathy in type 1 diabetes among Egyptian population

Reported to date, strong evidence exists in multiple studies for genetic predisposing in the development of diabetic nephropathy, and no studies addressed this issue among Egyptian population. The results of angiotensin converting enzyme gene [ACE] in the susceptibility to nephropathy in type 1 diabetes with nephropathy are conflicting. We aim to identify the associations of two ACE gene polymorphisms [PstI, A > G substitution and a 287-bp insertion/deletion] with nephropathy in type 1 diabetes in Egyptian children/adolescents. Our case-control study contained 140 diabetic individuals; 80 diabetic with nephropathy as cases, and 60 diabetic subjects without nephropathy as control group. Amplified DNA from peripheral leucocytes/buccal mucosa was genotyped for using polymerase chain reaction and enzymatic assay. We found no significant differences in the distribution of ACE insertion/deletion and PstI genotypes or allele frequencies were observed between the examined groups. Frequencies of PstI-indel haplotypes were similar in all of our study groups. In both cases and control subjects, ACE activity and microalbuminuria were highest among D/D homozygotes and lowest in I/I homozygotes, while a dissimilar result was seen in PstI polymorphism. Our findings in Egyptian population strongly conclude that there is no association between the ACE gene I/D and PstI polymorphisms with nephropathy in type 1 diabetes

Relation between obesity, lipid profile, leptin and atopic disorders in children

Obesity has become a disease of great importance affecting children and adolescents. Obesity can cause atopy or inflammation, where there are some common factors that predispose to both obesity and atopy. To study the factors contributing to allergic disorders in obese children, the role of leptin in obesity related atopic disorders and the relation of birth weight and breastfeeding to both obesity and atopy. Forty seven obese children and adolescents and 45 healthy children [control group] were included in the study. The obese children were divided into 2 groups [based on the history of nasal allergy, bronchial asthma, skin, eye or food allergy], group I [n = 21] atopic and group II [n = 26] non atopic. All obese children were subjected to complete blood count, serum triglycerides and cholesterol, serum leptin [for control group also] and serum total immunoglobulin E [IgE] measurement. Body mass index [BMI] was significantly higher in group I than group II [33.35 +/- 9.93 vs. 23.70 +/- 9.7IU/L, p = 0.000], also serum total IgE was significantly higher in group I than in group II [510.476 +/- 366.407 IU/L vs. 114.577 +/- 120.940 IU/L, p = 0.000]. Group II showed higher serum leptin level than group I [185.115 +/- 105.912 vs. 133.048 +/- 100.718 ng/ml], a difference not statistically significant [p = 0.092], yet, both were higher than the control group [7.24 +/- 5.98 ng/ml]. Significant positive correlation was found between serum leptin level and age [p = 0.000, r = 0.60] and BMI [p = 0.000, r = 0.720], while negative correlation was found between serum leptin and IgE [r = 0.289, P = 0.049]. Significant positive correlation was found between obesity [EM] and family history of obesity [r = 4.672, p = 0.036]. There is a strong positive association between obesity and atopy: Serum leptin was higher in obese children when compared to control group more in non atopic than atopic group yet not statistically significant. Family history of obesity is an important predisposing factor for obesity in children. The frequency of atopy was higher in artificial than in breast fed obese children. Therefore efforts should focus on weight reduction as a part of treatment of asthma in obese children, also serum leptin assay is important in all obese children and further studies are needed to know more details about leptin hormone and its relation to both atopy and obesity

Craniofacial proportions and anthropometric measurements among growth hormone deficient Egyptian children

Untreated children with growth hormone deficiency [GHD] have typical somatic features, including short stature, acromicria and distinctive craniofacial features including small head circumference. By using a cross sectional study design, we investigated the effect of GHD on craniofacial growth with photographic facial morphometrics and various anthropometric measurements, in 20 children with GHD compared with 20 healthy children and normal first degree relatives of the same age and sex group. Untreated children with GHD had retarded facial height and width [p<0.01] compared with the control group. Moreover all anthropometric measurements [weight, height, head circumference, sitting height, arm span and sub-ischial leg length] were reduced in GHD children in comparison to controls [p<0.01] except ear length which was above 3[rd] percentile. Also small head circumference for chronologic age and for height age was observed in GHD children [p<0.01]. In addition small hands and feet for age [below 3[rd] percentile] were found in untreated GHD children when compared with normal controls. This report validates and quantifies the clinical impression of foreshortened facies in GHD children

Study of amino acid disorders among a high risk group of Egyptian infants and children

The present work aimed at investigating infants [in neonatal and post neonatal period] and children suspected of having inborn errors of metabolism with unexplained mental retardation. The frequency pattern of the various amino acid disorders, in a group of selected infants and children was done to document the prevalence of various amino acid disorders among Egyptian children. In this study, recent methods to investigate such disorders have been carried out by amino acid analyzer which detects levels of amino acids. Extended metabolic screen which also detects amino acid disorders, organic acid disorders and the defects of fatty acid oxidation has been carried out. These recent methods have therefore the potential of yielding information on the physiological and pathophysiological status of different metabolic pathways, as well as their interrelationship. The total number of cases attending the outpatient clinic during the period of study were 1343 index cases, among them 50 index cases [3.72%] were suspected of having inborn errors of amino acid and, 20 cases [40%] of them have confirmed positive inborn errors of amino acid metabolism. Concerning the confirmed 20 cases, their ages ranged from 5 days to 11 years with a mean of 54.75 +/- 33.09 months with equally sex distribution. The overall consanguinity rate recorded was 65%, while the family history of the similarly affected cases was 30%. The main clinical findings included mental retardation 85%, convulsions 40%, and hypo pigmentation 75%, microcephally 15%. Associated anomalies were present in 35% of cases. Among them eye anomalies were the most common [8%]. The prevalence of aminoacidopathies during the period of the study was 1.5% [of 20 studied cases], among them PKU was found to be the commonest aminoacidopathies 1.11%, while the remaining diagnosed cases representing 0.07% for each

Prevalence of renal anomalies in children with auricular malformations among attendance of genetics clinic in Ain Shams University

Although many pediatricians pursue renal ultrasonography when patients are noted to have external ear malformations, there is much confusion over which specific ear malformations do and do not require imaging. The objective of this study was to delineate characteristics of a child with external ear malformations that suggest a greater risk of renal anomalies. We highlight several multiple congenital anomaly [MCA] syndromes that should be considered in a patient who has both ear and renal anomalies. From September 2004 to April 2006, 50 patients with external ear anomalies [preauricular pits and tags, low set ears, microtia, anotia, cup, phone, bat, and other forms of dysplastic ears] were consecutively recruited from the Genetics and Outpatient Clinic of Children's Hospital, Ain Shams University. Abdominal and pelvic ultrasound was done to each patient to screen for any renal anomaly. 4 patients [8%] with external ear anomalies as a part of MCA syndrome had renal anomalies, in the form of left hydronephrotic changes [n=1; 2%], absent left kidney and bifid right renal pelvis [n=1; 2%], and bilateral reflux and hydronephrotic changes [n=2; 4%]. Ear malformations are associated with an increased fre-quency of structural renal anomalies compared with the general popula-tion. This is because auricular malformations often are associated with specific MCA syndromes that have high incidences of renal anomalies. A renal ultrasound is useful not only in discovering renal anomalies, but also in the diagnosis and management of MCA syndromes themselves; it shou-ld be performed without delay in patients with ear anomalies, especially if those anomalies are part of MCA syndromes, in order to start conservative management or corrective surgery before irreversible kidney damage

Effect of hemodialysis on hexose monophosphate pathway of red blood cells in end stage renal disease patients

To evaluate the role of hemodialysis [HD] on the correction of hexose monophosphate pathway [HMP] in chronic hemodialyzed patients. Ten end stage renal disease [ESRD] patients on chronic hemodialysis were selected from the nephrology unit of Medical Research Institute. All patients were on maintenance HD. [Three times per week for more than one year]. Hemoglobin [Hb] concentration, lipid peroxides as malonyldialdehyde [MDA], glutathione reductase [GR], glutathione peroxidase [GPX], glucose 6-phosphate dehydrogenase [G6PD], oxidized glutathione [GSSG] and reduced glutathione content [GSH] were estimated in erythrocytes. In addition, plasma creatinine was determined. All these parameters were estimated before and after haemodialysis session. Mean plasma creatinine was significantly decreased after haemodialysis. Mean erythrocyte lipid peroxides and GR were significantly increased after haemodialysis while GPX enzymatic activity was significantly decreased after haemodialysis. The above changes may indicate that HD enhances the oxidative-antioxidant defense system, but with no improvement of the anemia or correction of HMP pathway. The use of vitamin E coated membranes in the haemodialyzers and administration of antioxidants to hemodialyzed patients is recommended

Bacteremia after nasal surgery

Bacteremia is often harmless, but not in subjects at high risk of cardiovascular lesions. The risk factor depends on the frequency of bacteremia and the involved microorganism. To determine this factor, 50 patients were managed by nasal surgery. Thirty of them with CS were operated upon by functional endoscopic sinus surgery [FESS], Caldwell-Iuc operation, and intra-nasal antrostomy according to clinical and radiological findings. The other twenty patients were operated upon by septoplasty or rhinoplasty according to each indication. Preoperative nasal swabs and peri-operative blood cultures were done according to conventional methods. The cultures of nasal swabs were positive in 90% of cases and were polymicrobial with prevalence of anaerobes. All the pre-operative blood cultures were negative, while it was positive in post-operative blood cultures in 25% of cases operated upon by Caldwell-Iuc operation, and 10% in cases operated upon by intranasal antrostomy. Postoperative blood cultures of patients operated upon by FESS or septorhinoplasty were negative. The difference [in our opinion] may be due to compromised vascular tree for each technique, and the amount of manipulation and tissue destruction. According to this study, we can postulate that bacteremia is an avoidable complication by selection of surgical techniques with minimal manipulation like FESS, and knowledge of bacteria involved in bacteremia is of value in choosing first-line antibiotic if symptoms arise