Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study

Glycogen storage disease type III [GSD III] is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt. Eighteen patients [58%] were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients [38.7%] had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Dolllike facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age [r = 0.7 and P = <0.001], while serum triglycerides correlated negatively with age [r = -0.4 and P = 0.05]. Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level

Facilitation of amblyopia management by laser in situ keratomileusis in children with myopic anisometropia

To evaluate of the effects of Laser in situ keratomileusis in lowering anisomyopia in children and its validity in facilitating the treatment of the resultant anisometropic amblyopia. Laser in situ keratomileusis [LASIK] was performed to 18 eyes of 18 children having myopic anisometropia amblyopia not successfully treated with the standard amblyopia treatment for 6 months. Children were followed up at 1 week, 1, 2, 6, 12, 18 and 24 months. Postoperative amblyopia therapy was continued with occlusion of the dominant eye for 6 hours daily for the first 3 months and then for 4 hours per the synoptophore [combined with occlusion] was done to improve the binocular function. The mean spherical equivalent refraction in the operated eye had reduced significantly from-9.25 +/- 3.43 D preoperatively to 1.5 +/- 1.23 D 2 years postoperatively. The mean spherical equivalent in the non operated feNow eye was-1.0 +/- 1.18 D preoperatively and-2.25 +/- 1.05 D by 2 years. The mean spherical equivalent anisometropia was-7.75 +/- 2.34 D preoperatively and-0.5 +/- 0.31 D at 2 years, representing a 93.5% reduction in anisometropia. At 6 months, 14 eyes [77.8%] were within +/- 1.0 of the targeted refraction and at 2 years, 10 eyes [55.6%] were within +/- 1.0 D. The mean regression value was-2.25 +/- 1.7 D, however, 15 eyes [83.3%] were within 3.0 D of the fellow eye. The mean BCVA was significantly improved from 0.26 +/- 0.21 preoperatively to 0.82 +/- 0.17 by 2 years after surgery with amblyopia treatment. Binocular vision status had improved after 2 years follow up with part-time reduced occlusion treatment. No significant surgical or general anesthesia complications were noted. LASIK is a safe and effective alternative method for correcting myopic anisometropia facilitating treatment of amblyopia, not responding to conventional methods of treatment, with more better visual acuity and binocular vision. An important factor in treatment success is the compliance with the long-term amblyopia treatment regimen. It should be considered as a first-line treatment option, surpassing glasses and con tact lenses in eliminating anisometropia and aniseikonia

effect of an educational program in improving venous catheter management practice in pediatric Cairo university hospital ICUs

Intravascular catheter related blood stream infection [BSI] is an important cause of illness and excess medical cost. In our hospital, the rate of peripheral venous catheter insertion [cannula] is 61.7% at the intensive care units, and the blood stream infection rate was 35.1% at the beginning of the study. This study was designed to conduct infection control practice training [mainly for cannula insertion practice] at neonatal and pediatric intensive care units of Cairo university pediatric hospital, with evaluation of results before and after the study. The pretest found major problems concerning the proper use of alcohol based product for hand hygiene or during skin preparation for cannula Insertion. Also shortage of infection control knowledge and medical supply [cannula device, soap, alcohol, and sterile dressing] was obvious. A significant improvement after training program was observed regarding proper cannula insertion practice [mainly hand hygiene, skin preparation, and no touch method for cannula insertion], [p value = 0.001]. The blood stream infection rate dropped from 35.1% at pre-implementation period to 23.1% at the post implementation period, with a significant decrease of blood isolates which cause intravascular catheter associated blood stream infection [Coagulase negative staphylococci, Staphylococcus aureues, Candida, and Enterococci] P value 0.004. The significant improvement of cannula insertion practice, together with the decrease of blood isolates related to catheter associated BSI, and the drop of BSI rate after the training pro gram point to the importance of the infection control education program targeted to specific problems

Evaluation and monitoring of infection control practices

Nosocomial infections on neonatal intensive care units [NICUs] have been a recognized cause for concern for many years. Blood stream infections are the most frequent nosocomial infections in NICUs. This work was done to evaluate the impact of infection control practices implementation on intra venous fluid [IVF], medication contamination and neonatal sepsis at NICUs. The study was designed to conduct an infection control practice training course at six private neonatal intensive care units at three governorates with evaluation of the results before and after the study. Samples of all available in-use intravenous fluid bottles and previously used bottles, opened medication ampoules and blood samples from the clinically suspected infants were collected and cultured to detect the organisms and their sensitivity to antimicrobial agents before and one month later after the training course. Also infection control practice observation tool was designed and used for evaluation of the infection control practice at each NICU before the study and one month later. The results showed that K. Pneumonia, K. Terregina and Enterobacter were the commonest types of organisms at the pre-training visit; while at the post-training visit, K. Pneumonia and coagulase negative Staph. were the commonest types of organisms. At the pre-training visit, the IVF contamination rate was 62%, the medication contamination rate was 16.1% and the blood infection rate was 64.8%. At the post training visit, IVF contamination rate dropped to 32%, medication contamination dropped to 0% and the blood infection rate to 50%. There is significant reduction in both IVF and medication contamination frequency [P value = 0.000]. The mean score of infection control practices concerning the training aspects are significantly increased at the post-training visit at the six NICUs. A significant positive correlation was found between infection control practice score in the six NICUs and the negative IV fluid [free samples] [r = 0.5 and P = 0.003]

Conclusions: Surveillance of nosocomial infections in NICUs and successful strategies to decrease infections, such as infection control practice and optimal antibiotic use, are warranted. The significant decrease in contamination rate of IV fluids and medications and positive blood culture results after the training practice point to the importance of microbiological culture of in-use IV fluids which could be a helpful adjunct to epidemiologic studies to directly assess the effectiveness of infection control practices related to IV fluid preparation and use, also point to the significance of proper health hygiene in nosocomial infection control

Cardiac changes in children with primary hypothyroidism

The heart is a major target organ for thyroid hormone action, and marked changes occur in cardiac function in patients with hypothyroidism. The hemodynamic changes typical of hypothyroidism are opposite to those of hyperthyroidism, but they are accompanied by fewer symptoms and signs. Thyroxine therapy reverses all the cardiovascular changes associated with hypothyroidism. This work was planned to evaluate prospectively the cardiac performance and structure in children with primary hypothyroidism by echocardiography before and after replacement therapy with thyroxine. Twenty one infants and children with untreated primary hypothyroidism were included. Twenty age and sex matched healthy controls were also included. All patients were subjected to complete physical examination, thyroid function tests, ECG and M-mode, 2-dimensional, pulsed and continuous wave Doppler examination before and 6 months after therapy. The results proved that following parameters were significantly higher in cases compared to their control subjects: LVDd[0. 56 +/- 2.2 VS-0.8 +/- 2, p=0.04], Ao [0.38 +/- 1.2 VS-0.67 +/- 1.1, p=0. 007], RPA [-.16 +/- 15 VS-2.5 +/- 0.7, p= 0.018] and LPA [1.13 +/- 2.3 VS -2.3 +/- 0.87, p=0.021]. By comparing the baseline echocardiographic parameters to those after 6 months of therapy, the following were observed: increased LVDd after therapy [0.56 +/- 2.2 VS 1.31 +/- 2, p=0.03]; diminished LV mass [0.32 +/- 1.6 VS -0.91 +/- 1.1, p=0.03]; diminished RVDd [0.82 +/- 0.8 vs 0.43 +/- 0.7, p=0.01]; significant improvement in all systolic function after therapy: EF% [71.6 +/- 6.5 VS 75 +/- 5.2, p=0.019], FS% [34.8 +/- 5.3 VS 39.3 +/- 5.1, p=0.008], VCF [1.32 +/- 0.27 VS 1.5 +/- 0.31, p=0.001], Aortic peak flow [0.95 +/- 0.2 VS 1.069 +/- 0.29, p=0.05] and pulmonary AT [0.149 +/- 0.13 VS 0.09 +/- 0.03, p=0. 047]. Moreover, the following parameters of diastolic function showed significant change at 6 month after therapy: mitral A[0.44 +/- 0.11 VS 0.61 +/- 0.28, p=0.02], mitral E/A [1.98 +/- 0.61 VS 1.46 +/- 0.49, p=0.006] and tricuspid E [0.58 +/- 0.13 VS 0.65 +/- 0.13, p=0.05]. The following echocaidiographic structural findings were also observed in our cases: PFO was found in 6 cases [28%] with a mean diameter 013 t 1.26mm; TR in 15 cases [71%], mean PG 15.71 +/- 7.6 mm Hg, PR in 11 cases [52%], mean PG 8.86 +/- 4.2 mm Hg, MR in 2 cases [0.09%, mean PG 14.5 +/- 6.3 mm Hg. None of our patients showed pericardial effusion. me duration of the illness was significantly correlated to base line Ao [p=0.001], LVDD [p=0.04] and RV p=0. 001]. Both base line FT3, FT4 showed significant correlations to LA [p= 0.04 and 0.016 respectively]. Seam triglycerides showed significant negative correlation to VCF [p=0. 009]. The dose of Ievothyroxin show significant negative correlation to RV [p=0. 04] and significant positive correlation to VCF [p=0. 03]. Meanwhile, the dose of L-thyroxin showed significant positive correlation to LV mass at 6 months [p= 0.04], and duration of illness showed significant positive correlation to RV [p=0. 02] and finally TSH at 6 months showed significant negative correlation to Ao at 6month after therapy [p=0. 04]

Conclusion: Evidence of alteration in cardiac systolic and diastolic functions is seen in children with primary hypothyroidism. These do improve with treatment. Structural cardiac anomalies could be demonstrated as an example of associated extra thyroidal anomalies. Classic teaching descriptions of ECG changes and pericardial effusion in advanced hypothyroidism were not seen

Role of pelvic sonography and color doppler analysis in the diagnosis of female sexual precocity

Isosexual precocity in girls is the development of secondary sexual characteristics in girls who are less than 8 years old and includes: isolated premature thelarche [PT], premature adrenarche and true precocious puberty [TPP]. True precocious puberty represents a serious developmental disorder necessitating immediate therapeutic measures, whereas premature thelarche is a harmless variation from the norm, necessitating only close follow up. However, many intermediate forms have been found with features intermediate between isolated PT and TPP and an open debate exists on treatment of these intermediate forms of puberty. The aim of the current study is to evaluate the role of the gray-scale ultrasound and color Doppler analyses in the differential diagnosis of true precocious puberty and premature thelarche and to correlate them with clinical, auxological and hormonal profile to determine their potential contribution to correctly diagnose girls with sexual precocity. Thirty-one girls were included in the study, of whom 20 girls had premature thelarche [PT] and 11 girls had true precocious puberty [TPP]. All cases were subjected to full clinical, auxological and pubertal assessment. The following hormonal profiles were done for all patients: basal leutinizing hormone [LH], basal follicle stimulating hormone [FSH], estradiol [E2] and stimulated peak LH/ peak FSH. Brain CT was done for all cases with central precocious puberty. Gray-scale ultrasound for uterine and ovarian evaluations was done for all patients and the following parameters were obtained: uterine and ovarian volumes by measuring length, depth and width, uterine morphology: fundocervical ratio, presence or absence of endometrial echo and ovarian morphology with the maximum diameter of the largest follicle was reported when present. Color Doppler analysis was done for uterine and ovarian arteries and these indices were measured: peak systolic velocity [PSV], end diastolic flow [ED], resistivity index [RI] and pulsatility index [PI]. The appearance of the wave was also reported [narrow systolic flow, absence or presence of diastolic flow].Our results proved that patients with TPP showed higher chronological age [CA] at the onset of the disease [p=0.000], more advanced height [p=0.000] and higher bone age [BA] [p=0.000]. The BA/CA, although higher in group II with TPP, yet it was non significant [p=0. 1]. According to Tanner scale, all patients presented a breast stage 2-3 except1/11 case in group II who presented a breast stage 4. Pubic hair stage 2-3 was present in 9/11 in group II [2/11 presented stage 1, 8/11 stage 2 and 1/11 stage 3] and 1/20 in group Ipresented stage 3 with significant difference between both groups [p=0. 000]. Regarding the hormonal prohle of the studied groups, our data showed a highly significant difference between both groups in their basal LH [1.3 vs 3.2, p=0.002], basal FSH [3.2 vs 4.5, p=0.045], E2 [12 vs 22, p=0. 000] and peak LH/peak FSH [0.4 vs 2.5, p=0.000]. The ultrasound examination and Doppler analysis of uterine and ovarian arteries blood flow data showed that girls with TPP had significantly higher uterine size [p=0.000], fundus/cervix ratio [p=0. 001], right and left ovarian size [p=0.002 and 0.016 respectively] together with the size of largest ovarian follicle measured when found [p=0.028]. Endometrial echo was found in 5/11 cases in group II and 3/20 cases in group I. All uterine and ovarian arteries Doppler indices showed significant difference between both groups except for ovarian artery RI that did not show significant difference between both groups. The uterine artery PI had high diagnostic value [sensitivity 90% and specificity 100]

Conclusion: Uterine and ovarian arteries Doppler indices can assist in the diagnosis of TPP and can be considered as a complementary tool to the clinical, laboratory and pelvic ultrasound parameters in diagnosing sexual precocity and further studies may be needed to assess their usefulness in following the cases after treatment

Common FGFR3 gene mutation is detected in Egyptian patients with achondroplasia phenotype

In this study, the identification of a recurrent missense mutation [G 1138 A] in the transmembrane domain of the fibroblast growth factor receptor-3 [FGFR3] protein with glycine substituted with arginine at a residue 380 [G380R] was reported. It was shown that the mutant genotype was segregated in eight sporadic cases [out of eleven] of achondroplasia patients. The identified common mutation was in the heterozygous state in all instances, the homozygous form of the mutation was not observed. The G380R was not identified in the three cases in whom the clinical and radiological features of achondroplasia were shown, indicating the possibility of the presence of another, less frequent, FGFR3 gene mutation that might account for the ACH- phenotype and need a further delineation. In this analysis, the presence of the G380R mutation in a variety of Egyptian ACH patients was confirmed, who had not been previously reported on

Hepatitis B and C virus infections among patients with gingivitis and adult periodontitis: seroprevalence and public health importance

The aim of the present case control study was to identify seroprevalence of hepatitis B and C virus [HBV and HCV] infections among one hundred cases with periodontal disease [71% gingivitis and 29% adult periodontitis] and one hundred controls with healthy gingiva matched for age and sex. Moreover, it aimed to detect hepatitis markers in saliva samples corresponding to the positive sera. Different risk factors associated with hepatitis infection and detectability rate of hepatitis markers were also studied. Methodology: enzyme linked immunosorbent assay [ELISA] technique was used to detect the presence of hepatitis B surface antigen [HBsAg], antibody to hepatitis B core antigen [anti HBc], e antigen [eAg] and antibody to hepatitis C virus [anti HCV] both in serum and saliva samples. HCV RNA was detected by polymerase chain reaction [PCR] technique. Oral examination was performed for assessment of simplified Oral Hygiene Index [OHI-S], Papillary Bleeding Index [PBI], probing pocket depth and loss of fibre attachment. cases with periodontal disease showed higher percentages of hepatitis exposure [hepex; anti HCV and/or anti HBc] and significantly higher anti HCV seropositivity than the controls [26% and 13% versus 22% and 8%, respectively]. No difference in HBsAg carrier rate nor in anti HBc seropositivity was elicited. Furthermore, cases with periodontal disease showed higher detectability rate of HBsAg, anti HBc, anti HCV or both anti HCV and/or anti HBc in whole unstimulated saliva than the controls [100% vs 66.7%, 50% vs 23.5%, 23.1% vs 0.0% and 42.3% vs 18.2%, respectively]. Stepwise logistic regression delineated two significant factors associated with the risk of hepatitis exposure, the first predictor was the rural residence and the second one was the history of blood transfusion [OR=3.10, 2.94, respectively]. Periodontal disease, severity of bleeding and bad oral hygiene were associated with the risk of hepatitis infection and with the detectability of hepatitis markers in the whole saliva