Correlation between free thyroxin levels and left ventricular ejection fraction in Graves' disease (preliminary study)

AIM: to determine the correlation between free thyroid hormone level and left ventricular ejection fraction in newly diagnosed Graves' patients. METHODS: this is a preliminary study with an initial cross-sectional design using free thyroxine level as a parameter of thyroid hormone state and left ventricular ejection fraction (LVEF) as a parameter of left ventricular systolic function. Free thyroxine level was measured in the laboratory and the LVEF was assessed by Simpson's methods of echocardiography study. RESULTS: ten patients (7 men and 3 women; age 18-52 years old) were studied. Their average of fT4 was 5.75 (SD 0.96) ng/dL and their average of LVEF was 70.57 (SD 4.50)%. There was positive correlation coefficient between free thyroxine level and left ventricular ejection fraction (r=0.711, p=0.021) in newly diagnosed Graves' patients. CONCLUSION: in this study strong positive correlation was found between free thyroxine (fT4) and left ventricular ejection fraction (LVEF) in newly diagnosed Graves' patients.     

A characteristic continuous wave Doppler signal in cor triatriatum?

Continuous wave Doppler recordings of the turbulent jet through the restrictive orifice of a left atrial partition in a patient with corrected transposition of the great arteries and cor triatriatum showed alternate bands of high intensity diastolic and low intensity systolic signals with preservation of the normal configuration of the diastolic E and A peaks. It is thought that Doppler studies in cor triatriatum will provide useful complementary haemodynamic information in the echocardiographic diagnosis of this anomaly.     

Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity

Annals of Hematology - HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular...     

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family

In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.     

Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population

Several studies have shown evidence for the contribution of interferon regulatory factor 6 (IRF6) variants to the risk of nonsyndromic oral clefts in Asians; however, this has not included the Malay population. The current study attempts to address this research gap using allele and haplotype transmission disequilibrium analyses. The results showed a strong transmission distortion for multiple haplotypes to patients with nonsyndromic cleft lip with or without cleft palate. Haplotypes carrying the 243 bp allele of D1S2136 and common alleles at the rs861019 and rs2235371 were over‐transmitted to patients. By contrast, haplotypes consisting of the 251 bp allele of D1S2136 and the rare allele at rs2235371 were more under‐transmitted. Furthermore, several variants and haplotypes showed excess maternal transmission, but none of them attained statistical significance in maternal relative risk analyses. In contrast, a significant child genotype effect was observed for several haplotypes, indicating fetal genotype could be the major genetic contribution rather than maternal genotype. The present study therefore further supports a role for IRF6 variants in clefting in this Southeast Asian population. Overall, Asian genetic backgrounds are most likely more susceptible to the haploinsufficiency of IRF6 variants. These variants may contribute to the condition either themselves, or they may be in linkage disequilibrium with other casual variants. © 2011 Wiley‐Liss, Inc.     

Critical adjustments and trauma surgery trends in adaptation to COVID-19 pandemic in Malaysia

Malaysia has one of the highest total numbers of COVID-19 infections amongst the Southeast Asian nations, which led to the enforcements of the Malaysian “Movement Control Order” to prohibit disease transmission. The overwhelming increasing amount of infections has led to a major strain on major healthcare services. This leads to shortages in hospital beds, ventilators and critical personnel protective equipment. This article focuses on the critical adaptations from a general surgery department in Malaysia which is part of a Malaysian tertiary hospital that treats COVID-19 cases. The core highlights of these strategies enforced during this pandemic are: (1) surgery ward and clinic decongestions; (2) deferment of elective surgeries; (3) restructuring of medical personnel work force; (4) utilization of online applications for tele-communication; (5) operating room (OR) adjustments and patient screening; and (6)continuing medical education and updating practices in context to COVID-19. These adaptations were important for the continuation of emergency surgery services, preventing transmission of COVID-19 amongst healthcare workers and optimization of medical personnel work force in times of a global pandemic. In addition, an early analysis on the impact of COVID-19 pandemic and lockdown measures in Malaysia towards the reduction in total number of elective/emergent/trauma surgeries performed is described in this article.     

Survival and function of MiHA epitope-specific host CD8 TM cells following ablative conditioning and HCT.

Memory T cell (TM) populations specific for transplantation Ags may arise from sensitization due to blood transfusions, tissue transplants, or in multiparous females. In each of these scenarios, TM cells are likely generated, and have been shown to persist in such individuals for extended time periods. Heightened resistance to allogeneic marrow engraftment in certain individuals is therefore consistent with the presence of antidonor TM. CD8 TM were generated against a single minor H Ag (MiHA) epitope to determine if such cells could inhibit allogeneic marrow engraftment. The present results demonstrate that B6 mice sensitized to a single immunodominant (H60) epitope efficiently reject donor marrow allografts expressing this MiHA alone or together with multiple minor transplantation antigens, even following ablative TBI conditioning. To further address the survival and function of these CD8 TM, sensitized mice were ablatively conditioned and administered a syngeneic HCT. CD8(+)H60(TCR+) TM were clearly detected up to 2 weeks later in such recipients. Additionally, the memory cells present were capable of mediating effector responses as evidenced by their ability to resist a second, allogeneic HCT. In summary, these observations highlight the increased risk of resistance in the presence of antidonor antigen-specific CD8 TM due to their ability to survive and function even following rigorous conditioning and HCT.     

Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population

Oral clefts are clinically and genetically heterogeneous disorders that are influenced by both genetic and environmental factors. The present family-based association study investigated the role of the MSX1 and TGFB3 genes in the etiology of non-syndromic oral cleft in a Malay population. No transmission distortion was found in the transmission disequilibrium analysis for either MSX1-CA or TGFB3-CA intragenic markers, whereas TGFB3-CA exhibited a trend to excess maternal transmission. In sequencing the MSX1 coding regions in 124 patients with oral cleft, five variants were found, including three known variants (A34G, G110G and P147Q) and two novel variants (M37L and G267A). The P147Q and M37L variants were not observed in 200 control chromosomes, whereas G267A was found in one control sample, indicating a very rare polymorphic variant. Furthermore, the G110G variant displayed a significant association between patients with non-syndromic cleft lip, with or without cleft palate, and normal controls (P=0.001, odds ratio=2.241, 95% confidence interval, 1.357-3.700). Therefore, these genetic variants may contribute, along with other genetic and environmental factors, to this condition.     

Management algorithm in pulmonary atresia with intact ventricular septum.

Pulmonary atresia with intact ventricular septum (PAIVS) is a disease with remarkable morphologic variability, affecting not only the pulmonary valve but also the tricuspid valve, the RV cavity and coronary arteries. With advances in interventional techniques and congenital heart surgery, the management of PAIVS continues to evolve. This review is an attempt at providing a practical approach to the management of this disease. The basis of our approach is morphologic classification as derived from echocardiography and angiography. Group A, patients with good sized RV and membranous atresia, the primary procedure at presentation is radiofrequency (RF) valvotomy. Often it is the only procedure required in this group with the most favourable outcome. Patients with severely hypoplastic RV (Group C) are managed along the lines of hearts with single ventricle physiology. The treatment at presentation is patent ductus arteriosus (PDA) stenting with balloon atrial septostomy or conventional modified Blalock Taussig (BT) shunt. Bidirectional Glenn shunt may be done 6-12 months later followed by Fontan completion after a suitable interval. Patients in Group B, the intermediate group, are those with borderline RV size, usually with attenuated trabecular component but well developed infundibulum. The treatment at presentation is RF valvotomy and PDA stenting +/- balloon atrial septostomy. Surgical re-interventions are not uncommonly required viz. bidirectional Glenn shunt when the RV fails to grow adequately (11/2 - ventricle repair) and right ventricular outflow tract (RVOT) reconstruction for subvalvar obstruction or small pulmonary annulus. Catheter based interventions viz. repeat balloon dilatation or device closure of patent foramen ovale (PFO) may also be required in some patients.