Haemoglobin (Hb) Cheverly is a rare, low oxygen affinity haemoglobinopathy. It is a result of point mutation at the 45 codon of the beta globin genes that leads to substitution of phenylalanine by serine. It is characterised by spuriously low peripheral oxygen saturation with normal arterial oxygen saturation. We describe a family of three with Hb Cheverly in Sarawak General Hospital, Malaysia. It was discovered through incidental finding during hospital admission for unrelated complaints. Laboratory testing revealed abnormal haemoglobin detected at the C window of the high performance liquid chromatography. Subsequent DNA analysis detected replacement of thymidine by cytosine at the beta globin genes. Hb Cheverly may or may not have clinical significance as most of the patients live a normal life; however, it is crucial for us to make early diagnosis to prevent unnecessary extensive investigations for hypoxaemia detected via pulse oximetry, especially in the midst of COVID-19 pandemic.
Eleusine indica, which is used in traditional medicine, exhibits antiproliferative activity against several cancer cell lines. However, metabolomic studies to evaluate the metabolite changes induced by E. indica in cancer cells are still lacking. The present study investigated the anticancer effects of a root fraction of E. indica (R-S5-C1-H1) on H1299, MCF-7, and SK-HEP-1 cell lines and analyzed metabolic changes in the treated cancer cells using ultra-high-performance liquid chromatography high-resolution mass spectrometry (UHPLC-HRMS). Cell metabolic activity assays demonstrated that the cell viability of the three cancer cell lines was significantly reduced following treatment with R-S5-C1-H1, with half-maximal inhibitory concentrations values of 12.95 µg/mL, 15.99 µg/mL, and 13.69 µg/mL at 72 h, respectively. Microscopy analysis using Hoechst 33342 and Annexin V fluorescent dyes revealed that cells treated with R-S5-C1-H1 underwent apoptotic cell death, while chemometric analysis suggested that apoptosis was triggered 48 h after treatment with R-S5-C1-H1. Deconvoluted cellular metabolomics revealed that hydrophobic metabolites were significantly altered, including triacylglycerols, phosphatidylcholine, phosphatidylethanolamine, sphingomyelin, and ceramide, suggesting that apoptosis induction by R-S5-C1-H1 potentially occurred through modulation of phospholipid synthesis and sphingolipid metabolism. These metabolomic profiling results provide new insights into the anticancer mechanisms of E. indica and facilitate the overall understanding of molecular events following therapeutic interventions.
szulgai, a rare species of non-tuberculosis mycobacterium (NTM) in the literature.Case Description: A 58 y old lady with progressive breathlessness and productive cough, was found to have cavitatory disease and nodularities on CT-chest four ys post lobectomy for metastatic breast carcinoma. Aspergillus specific-IgG was raised, and high-volume sputum culture yielded Aspergillus spp. She was treated with Itraconazole for chronic pulmonary aspergillosis (CPA). Mycobacterium culture yielded M.szulgai.After one y of Itraconazole, Aspergillus specific-IgG normalized, high-volume fungal culture was negative, and symptoms improved. However 4 of 5 sputum samples yielded M.szulgai, thus NTM treatment (Ethambutol, Moxifloxacin and Azithromycin) was commenced. Rifampicin was excluded because of Itraconazole interactions. NTM therapy was stopped shortly after starting because of intolerance.CT-chest revealed regression of nodularities but increased size and thickness of one cavity with a new air-fluid level. Itraconazole was stopped, and NTM treatment (Rifampicin, Ethambutol and Azithromycin) commenced.Discussion: Pulmonary aspergillosis and NTM-lung disease have similar presentations, making it difficult to determine the contribution of each to individual patient symptoms. ATS/IDSA criteria for NTM-disease diagnosis requires ≥2 positive sputum samples, and exclusion of other causes. Thus, CPA was our initial diagnosis.M.szulgai represents <1% of NTM isolates in NTM disease. There is little in the literature regarding M.szulgai, thus significance of positive isolates is unclear. Mycobacterium avium complex (MAC), the commonest cause of NTM disease is clinically significant 25% of times. In contrast M.szulgai positive sputum is clinically significant in 43-76% of cases. Clinical significance of MAC increases with more positive sputum samples, this could possibly be extrapolated to M.szulgai. Thus M.szulgai was deemed clinically significant with our case, supported by worsening cavitation on CT-chest.Conclusion: Detection of M.szulgai in sputum culture is clinically significant in the majority of cases. However, the diagnosis in patients with symptoms that can be attributed to other pathologies is challenging. This is particularly so with rare infections. This case highlights the value of implementing and monitoring response to therapy to identify the cause of symptoms.
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