Infantile acute megakaryoblastic leukaemia with T(1:22) in a non-down syndrome child.

Megakaryoblastic leukaemia is the commonest form of leukaemia occuring in Down syndrome infants. However, it’s subtype with translocation t(1;22)(p13;q13)is uncommon comprising <1% of all cases and reported to exclusively occur in infant without Down syndrome. It has a female predominance and carries apoor prognosis. We described this rare form of leukaemia in a 9-month-old girl who presented with bruises, massive hepatosplenomegaly and multiple cervical and inguinal lymphadenopathy. The blood film showed severe anaemia with ovalostomatocytosis, thrombocytopenia and mild leucocytosis. The bone marrow aspirate showed numerous blasts showing high nuclear-cytoplasmic ratio and agranular cytoplasm with cytoplasmic blebs. Peroxidase staining was negative. The immunophenotyping of the blasts showed positive expression of CD117, CD13, CD33 and CD61 which confirmed the diagnosis of acute megakaryoblastic leukaemia. Interestingly, the cytogenetic finding of translocation t(1;22) which is most common in acute megaloblastic leukaemia in infants without Down syndrome was found in this case. She received the AML trial 15 ADE protocol chemotherapy regime and developed severe neutropenic sepsis and respiratory distress requiring ventilatory support and granulocyte colony stimulating factor (G-CSF). She recovered wellmafter the first course of chemotherapy and was discharged. Unfortunately, she was not brought in for follow-up chemotherapy and presented a few months later with relapsed AML. She was re-started on ADE protocol and currently is on oral thioguanine for maintenance therapy

The Msi2 protein expression positive correlation with favorable cytogenetics findings in AML

Acute myeloid leukaemia (AML) is the most common subtype of acute leukaemias with a poor outcome. Msi2 protein is a newly discovered prognostic marker and it has been considered as a new target for therapy in AML. The study of Msi2 protein expression in AML cases has not been performed in Malaysia, to date. The main aim of the present study was to observe the expression of Msi2 protein in AML patients by immunohistochemistry (IHC) and to correlate its expression with the well-established prognostic and clinical parameters in AML as well as the overall survival (OS). Sixty four bone marrow trephine biopsy sections were immunostained for Msi2 protein. The percentage of blasts with positive reaction and the intensity of the cytoplasmic and nuclear staining were evaluated. The expression of Msi2 protein was found in 95.3% cases with Msi2 pattern varying between the cases. In 71.9% of cases, the blasts showed total cellular positivity and 23.4% cases showed only cytoplasmic positivity. Majority showed high expression of Msi2 for cytoplasmic staining. Interestingly, there was significant correlation between total cellular staining and the intermediate cytogenetic subgroup (P= 0.04). In conclusion, the results showed that the majority of the patients had high expression of Msi2 but this did not correlate to OS. However, the Msi2 expression correlated to the cytogenetic findings. The results suggest future extensive research to be conducted in order to ascertain the exact role of Msi2 positive blast cells in AML in our population and their association with prognosis and outcome

ASSESSMENT OF THE ACOUSTICAL PERFORMANCE IN MALACCA MOSQUE,MALAYSIA: A CASE STUDY ON THE SAYYIDINA ABU BAKAR MOSQUE

As a building for worship and one of the important symbols in Islam, a mosque is usually designed with its architectural grandeur. Among of the characteristics is its spacious interior to create a perception so that people will feel ’small’ when entering the house of God. Most mosques therefore have high ceiling and are usually constructed with dome shape. In Malacca, Malaysia however, the architectural of the mosque resembles the traditional Malay house where the ceiling follows a pyramidal shape. This paper discusses the acoustical condition of the mosque in Malacca. The Sayyidina Abu Bakar Mosque is presented here for a case study. Measurement of its reverberation time was conducted and the results are validated with simulation data from CATT room acoustics software. Other important acoustical parameters are evaluated such as the early decay time, clarity, definition, lateral fraction and speech transmission index

Modeling of dynamic response of beam-type vibration absorbing system excited by moving mass

A numerical simulation to calculate the dynamic response of a beam attached with beam vibration absorber through a viscoelastic layer subjected to a moving load is presented in this paper. The mathematical model is formulated by using Euler-Bernoulli theory to calculate the vertical response of the system. The effect of the inertia of the moving load is included in the model to study its effect on the beam response at the mid span. The viscoelastic layer is introduced as uniformly distributed stiffness and damping and the concept of mixed damping ratio is implemented which allows the system to be modeled for different rigidity ratio. The response is calculated using time integration method for different moving mass inertia, rigidity ratio of the beams and the stiffness and damping of the visco-elastic layer. The effect is investigated for different values of mass and speed of the moving load

Concomitant BCR-ABL and JAK2 V617F in a patient with myeloproliferative neoplasm: a case report

Myeloproliferative neoplasm (MPN) is a clonal proliferation of the haematopoietic stem cells leading to activated tyrosine kinase signaling activity. Myeloproliferative neoplasm is classified into BCR-ABL positive chronic myeloid leukemia (CML) and BCR-ABL negative MPN which harbors JAK2 V617F mutation in most cases. The genetic combination of BCR-ABL and JAK2 V617F mutation is rare with estimated frequency of 0.4% based on recent study. Herein, we reported a case of a man diagnosed with CML detected by fluorescence in-situ hybdridisation (FISH) showing atypical BCR-ABL fusion pattern in 29% nucleated cells (cut-off levels ≥5% for positive signals) in the presence of JAK2 V617F mutation. However, the BCR-ABL transcript was not detected by the conventional reverse transcriptase-polymerase chain reaction (RT-PCR) method which was specific for major fragments. Interestingly, complete hematological remission was not achieved despite initiation of tyrosine kinase inhibitor (Imatinib). In conclusion, it is imperative to scrutinise CML cases for concomitant JAK2 V617F mutation especially patients with atypical clinical or laboratory findings. Therefore, close monitoring with clinical and ancillary technique especially FISH and molecular methods such as DNA sequencing were crucial to help achieve complete hematological, cytogenetic and deep molecular response alongside targeted therapy

Multimodal characterization of the late effects of traumatic brain injury: a methodological overview of the Late Effects of Traumatic Brain Injury Project

Epidemiological studies suggest that a single moderate-to-severe traumatic brain injury (TBI) is associated with an increased risk of neurodegenerative disease, including Alzheimer’s and Parkinson’s disease (AD and PD). Histopathological studies describe complex neurodegenerative pathologies in individuals exposed to single moderate-to-severe TBI or repetitive mild TBI, including chronic traumatic encephalopathy (CTE). However, the clinicopathological links between TBI and post-traumatic neurodegenerative diseases such as AD, PD, and CTE remain poorly understood. Here we describe the methodology of the Late Effects of TBI (LETBI) study, whose goals are to characterize chronic post-traumatic neuropathology and to identify in vivo biomarkers of post-traumatic neurodegeneration. LETBI participants undergo extensive clinical evaluation using National Institutes of Health TBI Common Data Elements, proteomic and genomic analysis, structural and functional MRI, and prospective consent for brain donation. Selected brain specimens undergo ultra-high resolution ex vivo MRI and histopathological evaluation including whole mount analysis. Co-registration of ex vivo and in vivo MRI data enables identification of ex vivo lesions that were present during life. In vivo signatures of postmortem pathology are then correlated with cognitive and behavioral data to characterize the clinical phenotype(s) associated with pathological brain lesions. We illustrate the study methods and demonstrate proof of concept for this approach by reporting results from the first LETBI participant, who despite the presence of multiple in vivo and ex vivo pathoanatomic lesions had normal cognition and was functionally independent until her mid-80s. The LETBI project represents a multidisciplinary effort to characterize post-traumatic neuropathology and identify in vivo signatures of postmortem pathology in a prospective study

Detection of partial G6PD deficiency using OSMMR2000-D kit with Hb normalization.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide including Malaysia. Screening of cord blood for partial G6PD deficiency is important as they are also prone to develop acute haemolysis. In this study, we determined the prevalence of partial G6PD deficient in paediatric population aged 1 month-12 years and normal term female neonates using OSMMR-D kit with haemoglobin (Hb) normalization and compare it with florescence spot test (FST). A total of 236 children, aged between between 1 month-12 years and 614 normal term female neonates were recruited for this study. Determination of normal means for G6PD activity and; cut-off points for partial and severe deficiency were determined according to WHO Working Group (1989). Determination of prevalence for partial deficiency for both groups (female patient) was done using this enzyme assay kit and findings were compared with FST. In this study, 15.7% (18/115) female children were classified as partial G6PD deficient by quantitative enzyme method (G6PD activity: 4.23-5.26U/gHb). However, FST only detected 0.9% (1/115) with minimal G6PD activity. The prevalence of partial G6PD deficiency in female neonate group was 3.42% (21/614) by enzyme assay versus 0.49% (3/614) by FST. This study concluded that our routine screening method using FST was unable to diagnose female heterozygotes. We recommend using this quantitative enzyme assay method by OSMMR-D kit since it was more sensitive in detecting G6PD deficiency in female neonates compared to FST

Effects of Structural Parameters on the Dynamics of a Beam Structure with a Beam-Type Vibration Absorber

A beam-type absorber has been known as one of the dynamic vibration absorbers used to suppress excessive vibration of an engineering structure. This paper studies an absorbing beam which is attached through a visco-elastic layer on a primary beam structure. Solutions of the dynamic response are presented at the midspan of the primary and absorbing beams in simply supported edges subjected to a stationary harmonic load. The effect of structural parameters, namely, rigidity ratio, mass ratio, and damping of the layer and the structure as well as the layer stiffness on the response is investigated to reduce the vibration amplitude at the fundamental frequency of the original single primary beam. It is found that this can considerably reduce the amplitude at the corresponding troublesome frequency, but compromised situation should be noted by controlling the structural parameters. The model is also validated with measured data with reasonable agreement