Prenatal diagnosis of beta-thalassemia: 12 years' experience at a single laboratory in Pakistan

OBJECTIVE: To evaluate the service for prenatal diagnosis of beta-thalassemia in Pakistan. METHODS: All prenatal diagnoses (PNDs) for beta-thalassemia since the introduction of the service in 1994 were studied. PND was done by the Amplification Refractory Mutation System (ARMS), or linkage analysis, when required. The reported errors in PND were investigated for clerical mistakes, technical problems with PCR, maternal contamination and nonpaternity. RESULTS: In the 12 years 2174 PNDs were done for beta-thalassemia at the country's main referral center. The use of PND has increased from 26 in 1994 to 381 in 2006. Over 97% of the couples who requested PND already had an affected child. In over 97% of the cases PND was done by direct mutation analysis. The reported rate of misdiagnosis was 0.37%. The causes of misdiagnoses included one clerical mistake, three false positive PCR results, and two maternal contaminations in the chorionic villus sampling (CVS). CONCLUSION: PND for beta-thalassemia is technically feasible by direct mutation analysis in most cases in Pakistan. The procedure is quick and cost effective. Strict quality assurance can achieve an acceptably low error rate.     

Microstructural Evolution,Tensile Failure,Fatigue Behavior and Wear Properties of Al2O3 Reinforced Al2014 Alloy T6 Heat Treated Metal Composites

The paper focused on an experimental study on the microstructural, mechanical, and wear characteristics of 15 wt.% alumina (Al₂O₃) particulates with an average particle size of 20 µm, reinforced in Al2014 alloy matrix composite as-cast and heat-treated samples. The metal matrix composite (MMC)samples were produced via a novel two-stage stir-casting technique. The fabricated composite samples were subjected to evaluate hardness, tensile strength, fatigue behavior and wear properties for both as cast and T6 heat-treated test samples. The Al2014 alloy and Al2014-15 wt.% Al₂O₃ MMCs were in solution for 1 h at a temperature of 525 °C, quenched instantly in cold water, and then artificially aged for 10 h at a temperature of 175 °C. SEM and X-ray diffraction analyses were used to investigate the microstructure and dispersion of the reinforced Al₂O₃ particles in the composite and the base alloy Al2014. The obtained results indicated that the hardness, tensile and fatigue strength and wear resistance increased when an amount of Al₂O₃ particles was added, compared to the as-cast Al2014 alloy and it was observed that after subjecting the same composite samples to heat treatment, there was further enhancement in the mechanical and wear properties in the Al2014 matrix alloy and Al2014-15 wt.% Al₂O₃ composite samples.     

The Effect of Dentifrice on Micro-Hardness,Surface Gloss,and Micro-Roughness of Nano Filled Conventional and Bulk-Fill Polymer Composite—A Micro Indentation and Profilometric Study

The aim of the present study was to evaluate the effect of brushing with two whitening dentifrices (Colgate Optic White (COW) and Colgate Optic White Charcoal (COC)) on surface gloss, micro-roughness, and micro-hardness of nanostructured hybrid conventional (Z350) and bulk-fill (Tetric N Ceram bulk-fill) polymer composite. In total, 96 disk samples using two nano-hybrid composite polymers (Z350 and Tetric N Ceram Bulk-fill) were prepared. All specimens were exposed to two different dentifrices (COW and COC), resulting in four main subgroups in the study. Specimens were assessed for surface gloss, micro-roughness (Ra), and micro-hardness using standardized methodology. Means and standard deviations of properties compared using paired t-test, one-way and two-way ANOVA, and post hoc test. The presence of dentifrices did not show any significant difference in micro-hardness values of Z350 (p > 0.05), whereas micro-hardness of bulk-fill composite significantly reduced on dentifrices exposure (p ≤ 0.05). Bulk-fill polymer composite showed significant reduction in gloss after dentifrice exposure (p < 0.05), however, Z350 showed no significant loss of gloss due to dentifrices (p > 0.05). A significant increase in Ra was observed for both resin materials after exposure to dentifrices (COC and COW). Conventional resin composite (Z350) showed comparable surface hardness and gloss before and after dentifrice exposure, however, micro-roughness increased significantly due to dentifrice exposure. Bulk-fill resin (Tetric N Ceram) showed significant loss of micro-hardness and gloss and increase in micro-roughness on dentifrice exposure. Conventional nano-hybrid composite polymer showed better durability in resisting loss of surface properties compared to bulk-fill resin polymer in the present experiment.     

Dental arch changes after anterior open bite treatment in the mixed dentition produced by miniscrew-supported palatal crib vs conventional fixed palatal crib:: A randomized clinical trial

ObjectivesTo evaluate the dental arch changes produced by the miniscrew-supported palatal crib (MSPC) and the conventional fixed palatal crib (CFPC) after the treatment of patients with anterior open bite (AOB) attributed to the tongue-thrusting habit in the mixed dentition stage.Materials and MethodsA total of 26 children aged 8 to 11 years with an AOB were randomly distributed into two equal groups; the MSPC group was treated using a palatal crib supported by two miniscrews inserted paramedially, whereas the CFPC group was treated using a conventional fixed palatal crib soldered to bands. Digital models were obtained pretreatment and after a follow-up duration of 9 months.ResultsThe MSPC group included 12 participants (9 girls and 3 boys; mean age, 9.4 ± 0.75 years), and the CFPC group included 12 participants (10 girls and 2 boys; mean age, 9.0 ± 0.73 years). The amount of AOB closure was similar in both groups: 3.97 ± 1.44 mm in the MSPC group and 3.97 ± 0.89 mm in the CFPC group. There was significant mesial movement of the maxillary first molar in the CFPC (−1.42 ± 0.99 mm) compared with the MSPC group (−0.53 ± 0.32 mm).ConclusionsBoth appliances resulted in similar improvement in the amount of AOB closure. There was significantly more mesial movement of the maxillary first molars in the CFPC group compared with the MSPC group.     

Moyamoya syndrome presenting in an adult with Down syndrome: A case report with a literature review

Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome     

Potential of Waste Marble Sludge for Repressing Alkali-Silica Reaction in Concrete with Reactive Aggregates

The continuous development of the marble industry has led to an increase in the accumulation of waste marble sludge causing landfilling and health-associated issues. The intention of the current study is to explore the potential of waste marble sludge powder (MS) utilization as a means of controlling alkali-silica reaction (ASR) in concrete. Specimen (cubes, prisms, and mortar bars) were prepared to incorporate reactive aggregates and various proportions of MS ranging from 5% to 40% as a replacement for aggregates. Expansion and mechanical strength characteristics were determined to investigate the effectiveness of MS to control ASRfor up to 150 days. Results revealed that on replacing aggregates in the control specimen with 25% MS, the ASR expansion at 14 days reduced from 0.23% to 0.17%, and the expansion at 28 days reduced from 0.28% to 0.17% which is within limits as per American Standard for Testing of Materials (ASTM) C1260. Furthermore, specimens incorporating MS exhibited improved compressive and flexural strength as compared to the identical specimen without MS. Microstructural analysis using Scanning electron microscopy (SEM) revealed micro-cracks in the control specimen while the specimen incorporating MS was found intact. Thus, it can be foreseen that the use of MS as a partial replacement of aggregates can control ASR in concrete as well as reduce the dumping and harmful emissions issue.