A family demonstrating autosomal dominant thrombocytopenia is described. A 28-year-old Malay housewife was found to have a platelet count of 40 x 10(9)/l with a low mean platelet volume (6.8 fl) while being investigated prior to ovarian cystectomy. The bone marrow was consistent with immune thrombocytopenia but she failed to respond to appropriate therapy. Five siblings, one parent and one nephew have easy bruising and platelet counts of 39-82 x 10(9)/l. Platelet aggregation studies excluded a major functional defect. Survival of homologous platelets in the circulation was normal. Familial thrombocytopenias are rare but important to differentiate from the common acquired thrombocytopenias in order to spare the patient unnecessary treatments.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked red blood cell enzymopathy common in malaria endemic areas. Individuals affected by this disease show a wide variety of clinical signs including neonatal jaundice. In this preliminary report we describe the heterogeneity of G6PD deficient gene in neonatal jaundice in the Malay population in Kelantan. Thirteen G6PD deficient Malay neonates with hyperbilirubinemia were subjected to mutation analysis of the G6PD gene for known candidate mutations. Molecular defects were identified in the 13 patients studied. Though all of these were mis-sense mutations, identified nucleotide changes were heterogeneous. Six patients were found to have a C to T nucleotide change at nucleotide 563 of the G6PD gene (C563T), corresponding to G6PD Mediterranean; three cases had a single nucleotide change at T383C (G6PD Vanua Lava), two cases had G487A (G6PD Mahidol) and two cases had G1376T (G6PD Canton). These findings suggest that there are heterogeneous mutations of the G6PD gene associated with neonatal jaundice in the Malay population in Kelantan.
A 30-year-old Malay lady, with no previous or family history of bleeding, presented with severe gum bleeding 25 days post-partum. The factor VIII:c was 0.03 iu/ml with evidence of a slow-acting factor VIII inhibitor. Von Willebrand factor antigen (VWF:age) varied from less that 0.05 to 0.17 iu/ml, and there was absent ristocetin-induced platelet aggregation. Anti-nuclear and anti-DNA antibodies were present, but there were no other features of systemic lupus erythematosus. There was some clinical response to cryoprecipitate and tranexamic acid, and slight improvement with corticosteroid. Fifteen months later, the patient has no active bleeding problem, and her VWF-ag is increasing spontaneously. However, factor VIII:c is less than 0.01 iu/ml and her factor VIII inhibitor titre is still > 20 Bethesda units/ml.
The spectrum of beta-thalassemia mutations in Malays in Singapore and Kelantan (Northeast Malaysia) was studied. Allele specific priming was used to determine the mutations in beta-carriers at -28, Codon 17, IVSI #1, IVSI #5, Codon 41-42 and IVSII #654 along the beta-globin gene. The most common structural hemoglobin variant in Southeast Asia, Hb E, was detected by DNA amplification with restriction enzyme (Mnl1) analysis. Direct genomic sequencing was carried out to detect the beta-mutations uncharacterized by allele-specific priming. The most prevalent beta-mutations in Singaporean Malays were IVSI #5 (45.83%) followed by Hb E (20.83%), codon 15 (12.5%) and IVSI #1 and IVSII #654 at 4.17% each. In contrast, the distribution of the beta-mutations in Kelantan Malays differed, with Hb E as the most common mutation (39.29%) followed by IVSI #5 (17.86%), codon 41-42 (14.29%), codon 19 (10.71%) and codon 17 (3.57%). The beta-mutations in Kelantan Malays follow closely the distribution of beta-mutations in Thais and Malays of Southern Thailand and Malays of West Malaysia. The AAC-->AGC base substitution in codon 19 has been detected only in these populations. The spectrum of beta-mutations in the Singaporean Malays is more similar to those reported in Indonesia with the beta-mutation at codon 15 (TGG-->TAG) present in both populations. The characterization of beta-mutations in Singaporean and Kelantan Malays will facilitate the establishment of effective prenatal diagnosis programs for beta-thalassemia major in this ethnic group.
Bacteriocin is a proteinaceous biomolecule produced by bacteria (both Gram-positive and Gram-negative) that exhibits antimicrobial activity against closely related species, and food-borne pathogens. It has recently gained importance and attracted the attention of several researchers looking to produce it from various substrates and bacterial strains. This ushers in a new era of food preservation where the use of bacteriocin in food products will be an alternative to chemical preservatives, and heat treatment which are understood to cause unwanted side effects, and reduce sensory and nutritional quality. However, this new market depends on the success of novel downstream separation schemes from various types of crude feedstocks which are both effective and economic. This review focuses on the downstream separation of bacteriocin from various sources using both conventional and novel techniques. Finally, recommendations for future interesting areas of research that need to be pursued are highlighted.
The coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged as a major public health outbreak in late 2019 and was proclaimed a global pandemic in March 2020. A reflectometric-based RNA biosensor was developed by using cysteamine-stabilized gold nanoparticles (cysAuNPs) as the colorimetric probe for bioassay of COVID-19 RNA (SARS-CoV-2 RNA) sequence. The cysAuNPs aggregated in the presence of DNA probes via cationic and anionic electrostatic attraction between the positively charged cysteamine ligands and the negatively charged sugar-phosphate backbone of DNA, whilst in the presence of target RNAs, the specific recognition between DNA probes and targets depleted the electrostatic interaction between the DNA probes and cysAuNPs signal probe, leading to dispersed particles. This has rendered a remarkable shifting in the surface plasmon resonance (SPR) on the basis of visual color change of the RNA biosensor from red to purplish hue at the wavelength of 765 nm. Optical evaluation of SARS-CoV-2 RNA by means on reflectance transduction of the RNA biosensor based on cysAuNPs optical sensing probes demonstrated rapid response time of 30 min with high sensitivity, good linearity and high reproducibility across a COVID-19 RNA concentration range of 25 nM to 200 nM, and limit of detection (LOD) at 0.12 nM. qPCR amplification of SARS-CoV-2 viral RNA showed good agreement with the proposed RNA biosensor by using spiked RNA samples of the oropharyngeal swab from COVID-19 patients. Therefore, this assay is useful for rapid and early diagnosis of COVID-19 disease including asymptomatic carriers with low viral load even in the presence of co-infection with other viruses that manifest similar respiratory symptoms.
This study investigated the influence of coal bottom ash (CBA) on the concrete properties and evaluate the effects of combined exposure of sulphate and chloride conditions on the concrete containing CBA. During concrete mixing, cement was replaced with CBA by 10% of cement weight. Initially, concrete samples were kept in normal water for 28 days. Next, the specimens were moved to a combined solution of 5% sodium sulphate (Na2SO4) and 5% sodium chloride (NaCl) solution for a further 28 to 180 days. The experimental findings demonstrated that the concrete containing 10% CBA (M2) gives 12% higher compressive strength than the water cured normal concrete (M1). However, when it was exposed to a solution of 5% Na2SO4 and 5% NaCl, gives 0.2% greater compressive strength with reference to M1. The presence of 10% CBA decreases the chloride penetration and drying shrinkage around 33.6% and 29.2% respectively at 180 days. Hence, this study declared 10% CBA as optimum that can be used for future research.
High-grade neuroendocrine carcinoma (NEC) of the tonsil is rare and has a poor prognosis. The usual presentation is a neck mass with locoregional cervical lymphadenopathy. An axillary lymphadenopathy as a primary presentation of NEC of the tonsils is uncommon and challenging to treat. Tonsil neuroendocrine tumors display aggressive behaviors associated with early recurrence and metastasis after surgical resection. Managing this condition is demanding compared to NECs of gastrointestinal origin since, to date, the management of head-and-neck neuroendocrine tumors is still not well established. We present a 49-year-old female with a rare case of NEC of the tonsil presenting primarily with axillary lymph nodes metastasis. The patient's axillary lymph node was biopsied and revealed a Grade III neuroendocrine tumor. A positron emission tomography (PET) scan was done in searching of a primary lesion and showed a highly metabolic mass of the left tonsil as well as a left axillary lymph node suggestive of metastasis. The patient has been managed with a multimodality approach, with a combination of chemotherapy regimen and surgical resection of the axillary lymph node. Subsequent PET scan evaluation showed a complete response of the primary tumor with residual left axillary lymph node metastasis. NECs of tonsil presented with axillary lymph nodes metastasis is rare and has a poor prognostic outcome. It poses a dilemma with regard to management, as surgical resection of the metastasis is not promising given the possibility of early recurrence.