Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

Objectives: Structural and functional cardiovascular abnormalities have been reported in adults with osteogenesis imperfecta (OI); however, there is a lack of paediatric literature on this topic. This study aimed to investigate cardiovascular abnormalities in children with OI in comparison to a control group. Methods: This case-control study was conducted at the Sultan Qaboos University Hospital in Muscat, Oman, between May 2013 and August 2014. Data from eight patients with OI and 24 healthy controls were compared using conventional and tissue Doppler echocardiography (TDE). Results:The OI group had significantly lower peak early mitral valve flow velocity (P = 0.027), peak a-wave reversal in the pulmonary vein (P = 0.030) and peak early diastolic velocity of the mitral valve and upper septum (P = 0.001 each). The peak late diastolic velocities of the mitral valve (P = 0.002) and the upper septum (P = 0.037) were significantly higher in the OI group; however, the peak early/late diastolic velocity ratios of the mitral valve (P = 0.002) and upper septum (P = 0.001) were significantly lower. Left ventricular dimensions and aortic and pulmonary artery diameters were larger in the OI group when indexed for body surface area. Both groups had normal systolic cardiac function. Conclusion: Children with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel diameters. These findings indicate the need for early and detailed structural and functional echocardiographic assessment and follow-up of young patients with OI

Seismic Upgradation of RC Beams Strengthened with Externally Bonded Spent Catalyst Based Ferrocement Laminates

Globally, since there are more systems of civil infrastructure, there are also more degraded buildings and structures. If upgrading or strengthening is a practical option, complete replacement is likely to be an escalating financial burden and may be a waste of natural resources. It is necessary to repair or strengthen a number of reinforced concrete buildings and structures in order to boost their load-bearing capabilities or improve their ductility under seismic stress. Additionally, due to changes in service circumstances, a structure might need to be modified to reduce deflections or manage cracking. Strengthening may be preferable to limiting usage, capping applied loads, and regularly inspecting the structure rather than removing the existing structure or part and building a new one. This study aims to examine the flexural, shear, and combined effect of flexural and shear behavior of reinforced concrete (RC) beams strengthened with externally bonded spent catalyst-based ferrocement laminates and compare them to the control beams (unstrengthened) under two-point loading conditions. This study involves researching laminates with various spent catalyst doses, such as 3, 6, 9, and 12%, in an effort to determine the best amounts that will improve the structural performance of ferrocement laminates. Twelve spent catalyst-based ferrocement laminates measuring 500(L) × 125(B) × 20 mm (thickness) with 3% volume fraction of meshes each were cast and tested in the lab as part of the preliminary investigation. For repeatability, three laminates per case were employed. Eight numbers of under-reinforced RC beams measuring 75(L) × 100(B) × 150(D) mm were cast for the main study; six numbers were strengthened with optimized spent catalyst-based ferrocement laminates bonded with flexible epoxy systems at the tension zone, shear zone, and combination of tension and shear zone. Two of the beams were cast as control specimens. The beams were then evaluated using a Universal Testing Machine (UTM) with a 1000 kN capacity under two-point loading conditions. As a result, the strength, yield load, ultimate load, stiffness, ductility, and related failure modes of all tested beams' flexural and shear performances were examined. According to a preliminary analysis of laminates made of spent catalyst, the dosage of 9% provides good flexural strength in comparison to other doses. In comparison to the strengthened beam, the control beam's initial cracks appeared earlier. In comparison to the control beam, the strengthened beam has an increase in load-carrying capacity of 18% for flexure, 16% for shear, and 30% for the combined impact of flexure and shear. In comparison to the control beam, the deflection of the strengthened beam was decreased by close to 20 to 40% for flexure, 10 to 30% for shear, and 15 to 20% for the combined effects of flexure and shear at the same load level. In relation to control beams, the ductility also improved up to 30% for flexure, 25% for shear, and 25% for the combined impact of flexure and shear. Similar to this, the retrofitted beam is stiffer than the control beam by approximately 40% for flexure, 48% for shear, and 30% for the combined effect of flexure and shear. Theoretical formulation by section analysis is also derived and it gives close agreement with control and strengthened beams. The flexural and shear strengthening of the RC beam retrofitting system is effectively increased by using spent catalyst-based ferrocement laminates. No beam showed signs of premature and brittle failure. According to the test findings, it can be said that spent catalyst-based ferrocement reinforced beams perform better in every way than control beams. Doi: 10.28991/HIJ-2023-04-01-013 Full Text: PD

The association of Human Leukocyte Antigens Complex with Type 1 Diabetes in Omanis

Background: Identifying the human leukocyte antigens (HLA) high risk alleles, genotypes and haplotypes in different populations is beneficial for understanding their roles in type 1 diabetes (T1D) pathogenesis and intervention practices. Objective: The aim of this study was to identify T1D associated HLA gene alleles in the Omani population. Methods: Our case-control study included 73 diabetic seropositive children (mean age 9.08±3.27 years) and 110 healthy controls. HLA–A, -B, -C, -DRB1, and -DQB1 genes were genotyped using sequence specific primer polymerase chain reaction (SSP-PCR). Results: Two HLA class I alleles (B*08, B*58) and three class II alleles (DQB1*02, DRB1*03 and DRB1*04) were associated with T1D susceptibility, while one class I (B*51) and three class II (DQB1*05, DQB1*06, and DRB1*16) alleles were associated with T1D protection. HLA- DRB1*03 and DQB1*02 alleles showed the strongest risk association among all alleles. Six DRB1 residues (E9, S11, S13, Y30, V70 and K71) were significantly associated with T1D susceptibility. Heterozygous genotypes, HLA-DRB1*03/*04 and DQB1*02/*03 were significantly associated with T1D susceptibility (P=4.29E-07, OR=63.2 and P=0.02, OR=3.6, respectively). Furthermore, we detected a significant combined action of DRB1*03-DQB1*02 haplotype in T1D risk (P=1.76E-05, OR=15), and DRB1*16-DQB1*05 haplotype in protection (P=3.12E-2, OR=0.48). Conclusion: Known HLA class II gene alleles are associated with T1D in Omani children

Lessons learned from COVID-19 Lockdown: An ASPED/MENA Study on Lifestyle Changes and Quality of Life during Ramadan Fasting in Children and Adolescents living with Type 1 Diabetes

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF. Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses. Results: A total of 998 reports from 499 children with T1D aged 8-18 years (study=276, control=223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children’s care during lockdown (p=0.019). Patients had better compliance with treatment (p= 0.002), a reversed sleep pattern (p= 0.033), increased food intake (p=<0.001) and less exercise (p<0.001). Children and parents perceived better QoL during lockdown (p=<0.001) with no differences between their reports in “Diabetes Symptoms”, “Treatment Adherence” and “Communication” domains. Self and proxy reports were different in all domains during non-lockdown (p-values <0.001- 0.009). In gap analysis, although not statistically significant, the gap was approximated between children’s and parents’ perceptions in all domains during lockdown. Conclusion: COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics

The ICET-A survey on current criteria used by clinicians for the assessment of central adrenal insufficiency in thalassemia: Analysis of results and recommendations

Background: In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined. Methods: To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice" (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step). Results: A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step questionnaire. The study demonstrated a considerable variability in almost all aspects of relevant current criteria used for the diagnosis of CAI. An ROC analysis using peak value > 20 µg/dl (> 550 nmol/L), after ACTH stimulation test, was performed with the aim of identifying the optimal basal serum cortisol cut-off. The optimal threshold that maximizes sensitivity plus specificity for morning basal cortisol against peak post-ACTH value >20 µg/dl (>550 nmol/L) was 10 µg/dl (275 nmol/L). Furthermore, the values associated with the highest negative predictive value (NPV) and highest, positive predictive value (PPV) were 4.20 (115 nmol/L) and 18.45 µg/dl (510 nmol/L), respectively. Surprisingly, 20 specialists in thalassemia working in blood bank, thalassemia centres (day hospital), internal medicine, hematology and onco-hematology had poor knowledge and experience in testing for CAI and stopped filling the questionnaire after the second question. In contrast, 9 endocrinologists (8 pediatricians) and 6 hematologists working in collaboration with endocrinologists completed the questionnaire. Conclusions: While waiting for more extensive adequately powered and targeted studies, physicians should adopt an acceptable policy for accurate assessment of HPA in TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are also recommended. The ICET-A recommendations are reported in order to facilitate for interested physicians the approach to a successful assessment of adrenal function in thalassemia. © 2016

The ICET-A survey on current criteria used by clinicians for the assessment of central adrenal insufficiency in thalassemia: Analysis of results and recommendations

Background: In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined. Methods: To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice&quot; (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step). Results: A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step questionnaire. The study demonstrated a considerable variability in almost all aspects of relevant current criteria used for the diagnosis of CAI. An ROC analysis using peak value &gt; 20 μg/dl (&gt; 550 nmol/L), after ACTH stimulation test, was performed with the aim of identifying the optimal basal serum cortisol cut-off. The optimal threshold that maximizes sensitivity plus specificity for morning basal cortisol against peak post-ACTH value &gt;20 μg/dl (&gt;550 nmol/L) was 10 μg/dl (275 nmol/L). Furthermore, the values associated with the highest negative predictive value (NPV) and highest, positive predictive value (PPV) were 4.20 (115 nmol/L) and 18.45 μg/dl (510 nmol/L), respectively. Surprisingly, 20 specialists in thalassemia working in blood bank, thalassemia centres (day hospital), internal medicine, hematology and onco-hematology had poor knowledge and experience in testing for CAI and stopped filling the questionnaire after the second question. In contrast, 9 endocrinologists (8 pediatricians) and 6 hematologists working in collaboration with endocrinologists completed the questionnaire. Conclusions: While waiting for more extensive adequately powered and targeted studies, physicians should adopt an acceptable policy for accurate assessment of HPA in TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are also recommended. The ICET-A recommendations are reported in order to facilitate for interested physicians the approach to a successful assessment of adrenal function in thalassemia. © 2016

Review and recommendations on management of adult female thalassemia patients with hypogonadism based on literature review and experience of ICET-A network specialists

Background: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed. Methods: In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients with hypogonadism. They were clinically characterized by the absence of pubertal development or discontinuation or regression of the maturation of secondary sex characteristics, and biochemically by persistent low FSH, LH and estradiol levels. Recently a supplementary survey on adult female hypogonadism in TM was undertaken within the ICET-A network. Results: The completed questionnaires were returned by 16 of 27 specialists (59.2%) following 590 female TM patients over the age of 18 years; 315 patients (53.3%) had hypogonadism, and only 245 (74.6%) were on hormone replacement therapy (HRT). Contraceptive oral pills (COC) were the first treatment choice in 11 centers (68.7%). A wide range of COCs was used with different progestin contents. In general, the patients&apos; compliance to treatment was reported as good in 81.2 % of centers. The frequency of required tests for follow-up HRT, in addition to the regular check-up for thalassemia, was variable in the participating centers. Conclusions: Doctors taking care of TM patients should have sound knowledge of the pathophysiology of hypogonadism in adult females with TM. They should know the potential effects of HRT including advantages and disadvantages of estrogen and progestins. Moreover, they should keep in consideration the emotional needs of these patients dreaming of attaining a full pubertal development