Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children

BackgroundInborn errors of metabolism (IEMs) commonly present with pediatric cardiomyopathy. Identification of the underlying cause is necessary as it may lead to improved outcomes.ObjectivesWe aimed to investigate the diagnostic rate, the clinical, and biochemical spectra of IEMs among Egyptian pediatric patients presenting with cardiomyopathy, and their outcome measures.MethodsWe retrospectively analyzed the clinical, biochemical, and radiological data of 1512 children diagnosed with cardiomyopathy at Cairo University Children''s Hospital over a 5-year duration.ResultsTwo hundred twenty-nine children were clinically suspected as IEMs and underwent metabolic workup. Nineteen different IEMs were confirmed in 57 (24.4%) of the suspected children. Their median age at presentation was 2.6 years and the majority had extra-cardiac manifestations. Hypertrophic cardiomyopathy represented 43/57 (75.4%) of confirmed cases, while dilated cardiomyopathy represented 13/57 (22.8%), and one patient presented with a mixed phenotype. Twenty- six patients (45.6%) survived, while 31 patients (54%) either died or were lost to follow up and assumed deceased.ConclusionsWe developed for the first time a database and a diagnostic scheme for metabolic cardiomyopathies in Egyptian children. With the recent introduction of enzyme replacement therapy, many metabolic disorders became treatable, thus establishing an early and accurate diagnosis is extremely important.     

Basilar venous plexus of the posterior fossa: a potential source of error in petrosal sinus sampling

Sampling of serum from the inferior petrosal sinus can provide important information about the source of elevated adrenocorticotropic hormone (ACTH) levels. This often leads to improved results of pituitary surgery for Cushing disease. The authors describe a successful catheterization technique and illustrate the venous anatomy of the inferior petrosal sinuses and basilar plexus.     

Using endoscopy to teach cataract surgery

Current methods of teaching cataract surgery include lectures, wet-lab sessions, and participation in real surgery. We describe a new method using a microendoscopic cyclophotocoagulation device during phacoemulsification cataract extraction and posterior chamber intraocular lens (IOL) implantation in 4 eyes of 4 patients. Endoscopic visualization during surgery aided in construction of the corneal incision, location of the capsulorhexis edge, and estimation of the lens groove depth. It also demonstrated clinical findings not observable with the surgical microscope such as misplaced IOL haptics and residual lens cortex. Use of the endoscope enhanced the educational value of the surgery and the final surgical outcome.     

Induction of apoptosis by the ginsenoside Rh2 by internalization of lipid rafts and caveolae and inactivation of Akt

Background and purpose:

Lipid rafts and caveolae are membrane microdomains with important roles in cell survival signalling involving the Akt pathway. Cholesterol is important for the structure and function of these microdomains. The ginsenoside Rh2 exhibits anti-tumour activity. Because Rh2 is structurally similar to cholesterol, we investigated the possibility that Rh2 exerted its anti-tumour effect by modulating rafts and caveolae.

Experimental approach:

A431 cells (human epidermoid carcinoma cell line) were treated with Rh2 and the effects on cell apoptosis, raft localization and Akt activation measured. We also examined the effects of over-expression of Akt and active-Akt on Rh2-induced cell death.

Key results:

Rh2 induced apoptosis concentration- and time-dependently. Rh2 reduced the levels of rafts and caveolae in the plasma membrane and increased their internalization. Furthermore, Akt activity was decreased and consequently, Akt-dependent phosphorylation of Bad, a pro-survival protein, was decreased whereas the pro-apoptotic proteins, Bim and Bax, were increased upon Rh2 treatment. Unlike microdomain internalization induce by cholesterol depletion, Rh2-mediated internalization of rafts and caveolae was not reversed by cholesterol addition. Also, cholesterol addition did not restore Akt activation or rescue cells from Rh2-induced cell death. Rh2-induced cell death was attenuated in MDA-MB-231 cells over-expressing either wild-type or dominant-active Akt.

Conclusions and implications:

Rh2 induced internalization of rafts and caveolae, leading to Akt inactivation, and ultimately apoptosis. Because elevated levels of membrane rafts and caveolae, and Akt activation have been correlated with cancer development, internalization of these microdomains by Rh2 could potentially be used as an anti-cancer therapy.     

The validity and reliability of the graphic rating scale and verbal rating scale for measuring pain across cultures: a study in Egyptian and Dutch women with rheumatoid arthritis

OBJECTIVE: To compare the validity and reliability of a graphic rating scale (GRS) and a verbal rating scale (VRS) for measuring pain intensity in young female Egyptian and Dutch patients with rheumatoid arthritis (RA). METHODS: Data were obtained in a cross-cultural study of 42 Egyptian and 30 Dutch female outpatients with stable RA. Construct validity was assessed by correlating the scales with other core measures of disease activity in RA. Test-retest reliability was assessed over a 1-week interval. RESULTS: The GRS and the VRS were strongly intercorrelated in the total study cohort and in the Egyptian and Dutch subgroups. In the individual subgroups, only the GRS demonstrated the expected pattern of correlations with other disease activity measures. Test-retest reliability of the GRS was adequate in both Egyptian and Dutch patients (intraclass correlation coefficient 0.78 vs. 0.83, respectively), whereas reliability of the VRS was unsatisfactory in the Egyptian subgroup (weighted kappa 0.60 vs. 0.82 in the Netherlands). DISCUSSION: The study confirmed that the GRS and VRS were reliable and valid in the total study cohort. Within the individual countries, the GRS seemed to perform better than the VRS.     

Discrepancies in vessel sizing between angiography and intravascular ultrasound varies according to the vessel evaluated

Background/objectives

Quantitative coronary analysis (QCA) of the coronary artery and stent size may be influenced by anatomical location in relation to both calibration point and the X-ray tube. The impact of this phenomenon on lesion assessment is undetermined.

Methods

In total, 427 consecutive patients who underwent PCI with intravascular ultrasound (IVUS)-guidance were enrolled. The minimum stent diameter (MSD) was measured using QCA (MSD_QCA) and IVUS (MSD_IVUS) analysis. We used reference objects positioned at a different height from the X-ray source to validate our approach.

Results

A statistically positive moderate correlation was observed between MSD_QCA and MSD_IVUS (r = 0.649, p = 0.001). The mean MSD_QCA and MSD_IVUS were 3.04 ± 0.49 mm and 2.68 ± 0.47 mm respectively. The difference between MSD_QCA and MSD_IVUS of > 0.75 mm was more frequently observed in the LCx rather than in the LAD (7.4% in the LAD vs. 24.3% in the LCx, p = 0.001). The discrepancy between the MSD_QCA and MSD_IVUS for the LCx was larger than for the LAD, and tended to be larger than for the RCA (13.3% vs. 18.5%, p = 0.05 and 18.5% vs. 14.5%, p = 0.17). A discrepancy > 20% was more frequently observed in the small (≤ 2.5 mm) than in the large MSD_IVUS group (52.7% vs. 25.1%, p = 0.001). This discrepancy was more common in the LCx than in the LAD or RCA (48.6% vs. 30.9% vs. 31.2%, p = 0.03).

Conclusions

Assessment of the MSD_QCA is more likely to overestimate in the LCx than in the LAD, particularly when the MSD_IVUS is < 2.5 mm. Therefore, we should be less aggressive in oversizing balloons and stents based on QCA for the LCx or small vessel intervention.     

Association of suboptimal 25-hydroxyvitamin D levels with knee osteoarthritis incidence in post-menopausal Egyptian women

The main aim of this study was to assess the vitamin D status of newly diagnosed knee osteoarthritis (OA) patients. Thirty-six post-menopausal Egyptian females of mean age 54.7 years with knee OA were recruited alongside ten healthy males of mean age 25.8 years. The body mass index of all knee OA patients was calculated, and full patient history was gathered to screen for vitamin D status altering conditions or medication. Total 25-hydroxyvitamin D [25(OH)D] was assessed using HPLC which permitted an individualized assessment of both forms of the vitamin’s metabolite, 25(OH)D2 and 25(OH)D3. Results showed that mean 25(OH)D ± SEM concentrations were 25.0 ± 1.6 ng/mL and 35.4 ± 2.1 ng/mL for female patients and healthy male participants, respectively. Student’s t test statistical comparison yielded a significant result (P = 0.001) when comparing healthy and osteoarthritic participants, and insignificant results when comparing patients of different BMI class, and the different forms of the vitamin’s metabolite (P = 0.184 and 0.335, respectively). The 95 % confidence interval associated with knee OA incidence is 21.9–28.1 ng/mL, which is in the vitamin D insufficiency zone. In Conclusion, suboptimal 25(OH)D levels are associated with knee OA incidence in post-menopausal Egyptian females which further fortifies accumulating evidence.