Adolescent ; Adult ; Antigens, Human Platelet ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Malaysia ; epidemiology ; Male ; Middle Aged ; Oceanic Ancestry Group ; genetics ; Polymorphism, Genetic

This case report describes a 35-year-old lady who presented with generalized weakness and lethargy of two weeks duration and jaundice of more than 20 years duration. Her initial workup was suggestive of haemolysis and blood film showed a leucoerythoblastic picture with moderate microspherocytes. She was finally diagnosed as a case of hereditary spherocytosis after ruling out other possible causes of chronic haemolysis and supported by an abnormal osmotic fragility test, although family members refused for screening. Hereditory spherocytosis is uncommon in Malay population and presentation with jaundice of 20 years duration with leucoerythroblastic picture on blood film were interesting features in this case. Patient is being followed closely for need of splenectomy in near future as per severity of haemolysis and currently being managed with folic acid supplement.
Chronic ; Spherocytosis, Hereditary ; Patients ; Picture ; Films

Some of the beneficial biocompatible properties of hydroxyapatite [Ca10(PO4)6(OH)2]; the major component and an essential ingredient of normal bone and teeth, are that it is rapidly integrated into the human body and will bond to bone forming indistinguishable unions. But, before new materials are approved for medical use, mutagenesis systems to exclude cytotoxic, mutagenic or carcinogenic properties are applied worldwide. This study aimed to detect any chromosomal aberrations induced by the synthetic hydroxyapatite granules [Manufactured by Universiti Sains Malaysia, (USM) Penang, Malaysia] in the bone marrow cells of mice. The mitotic indices of the groups treated with synthetic hydroxyapatite granules did not show any significant difference as compared to the negative control group treated with distilled water. Also the groups of mice treated with synthetic hydroxyapatite granules and distilled water did not induce significant change in chromosome aberrations as compared to the positive control group treated with Mitomycin C. The mitotic indices and chromosomal analyses indicate that under the present test conditions, synthetic hydroxyapatite granules (manufactured by USM) are non cytotoxic and do not induce chromosome aberrations in the bone marrow cells of mice.
Chromosome Aberrations ; Durapatite

Introduction: Coagulopathy associated with Coronavirus disease 2019 (COVID-19) may cause life-threatening complications, especially in severe or critically ill COVID-19 patients. Thromboelastography (TEG) is an effective, dynamic, and reliable test to assess the complete coagulation process. This study aimed to determine the association between selected TEG parameters and survival in COVID-19 patients. Methods: This study was a retrospective observational study using data from medical records of COVID-19 patients who were hospitalized in Dr. Soetomo Hospital, Surabaya, Indonesia. There were 94 COVID-19 patients consisting of 76 survivors and 18 non-survivors. The association between TEG results and certain TEG parameters with survival status was considered significant if the p-value ≤ 0.05. Results: Increased coagulation activity had a significant association with the survival status of COVID-19 patients (p=0.04). There were no significant differences in all TEG parameters between COVID-19 patients who survived and those who did not survive (p > 0.05). Based on the TEG analysis tree, the most TEG results found were secondary fibrinolysis (21.3%) and fibrinolytic shutdown (24.5%). No significant association was found between the coagulability and fibrinolysis abnormality with the survival status in COVID-19 patients (p > 0.05). Conclusion: There was no significant difference in TEG results between COVID-19 survivors and non-survivors. However, based on the TEG result, an increase in coagulation activity is associated with a lower survival rate. Further study with detailed timing of TEG examination, disease severity and comorbidities stratification in COVID-19 patients may be needed.

Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is difficult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist accompanying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.

Introduction: Rac1 and STIM1 genes are emerging therapeutic targets for cancers. However, their roles in acute myeloid leukaemia (AML) are not well understood. The goal of this study was to evaluate the effects of dose and time on Rac1 and STIM1 knockdown in the AML cell line model (THP-1 cells). Methods: THP-1 cells were transfected with siRac1 at doses of 50, 100, and 200 nM or dsiSTIM1 at doses of 2, 5, and 10 nM. Expression level of Rac1 and STIM1 then were assessed at time points between 12 and 72 h post-transfection using real-time reverse transcription polymerase chain reaction. Results: Compared to the control, 87% Rac1 knockdown was attained with 50 nM siRac1 at 24 h post-transfection, and 70% STIM1 knockdown was achieved with 10 nM dsiSTIM1 at 48 h post-transfection. Conclusion: These results show that effective knockdown of Rac1 and STIM1 is possible, and therapy that includes Rac1 and STIM1 inhibitors eventually could provide a new and highly effective strategy for AML treatment.