We report an unusual association of pulmonary tuberculosis with moyamoya syndrome in a 30-year-old Filipino female who was admitted to our hospital with a 1-week history of fever and cough. Chest X-ray showed widespread bilateral consolidation with cavity, whereas sputum was positive for acid fast bacilli (AFB). Two weeks after starting antituberculous treatment, the patient developed two episodes of loss of consciousness, which were unwitnessed. Urgent brain computed tomography (CT) showed multiple infarctions, suggesting vasculitis. The electroencephalogram showed epileptic discharges. Magnetic resonance angiography showed a picture consistent with moyamoya disease. Brain CT angiography was performed and it showed the same pictures. The patient was diagnosed with pulmonary tuberculosis-associated moyamoya syndrome. On the following days, she was discharged on antituberculous medications, antiepileptic and oral hypoglycemic treatment. After 1 year, the patient was seen in the clinic, she was well and seizure-free.
Background
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are serious inherited heart diseases with various causative mutations identified. The full spectrum of causative mutations remains to be discovered, especially in understudied populations.
Methods
Here, we established the DOHA Registry and Biobank for cardiomyopathies in Qatar, followed by sequencing of 174 genes on 51 HCM and 53 DCM patients, and 31 relatives.
Results
In HCM, the analysis of 25 HCM‐associated genes showed that 20% of HCM cases had putative pathogenic variants for cardiomyopathy, mainly in sarcomere genes. Additional 49% of HCM cases had variants of uncertain significance, while 31% of HCM cases had likely benign variant(s) or had no variants identified within the analyzed HCM genes. In DCM, 56 putative DCM genes were analyzed. Eight percent of DCM cases had putative pathogenic variants for DCM, in the TTN gene while 70% of cases had variants of uncertain significance, in the analyzed DCM genes, that will need further pathogenicity assessment. Moreover, 22% of DCM cases remain unexplained, by having likely benign variant(s) or having no variants detected in any of the analyzed DCM genes.
Conclusion
We identified or replicated at least four recurrent variants among cardiomyopathy patients, which could be founder disease mutations in the Arabic population, including a frameshift variant (c.1371_1381dupTATCCAGTTAT) of unknown significance in the FKTN gene which seems to cause DCM in homozygosity, and HCM in heterozygosity. In vivo and/or in vitro functional validation need to be pursued in order to assess the pathogenicity of the identified variants.
Blood smear is considered as the gold standard test to diagnose Malaria parasite. The newer RDTs (malaria antigen) are reported to be highly sensitive, specific and time saving as compared to other diagnostic modalities. This test is undertaken to compare the efficacy of PfHRP-2 tests, PLDH and manual technique. A total of 252 cases of malaria as diagnosed by Composite reference techniquewere studied. The sensitivity of TFM, RDTs and PCR is 71.5%, 84.3% and 82.6% respectively and the specificity is 81.9%, 77.2% and 78.2% respectively.: The fact that the PCR & RDTs are costly, cannot assess the response of patients to treatment and inability to assess parasitic stage and density, makes the old dictum “Blood smears are the gold standard for the diagnosis of Malaria” to still hold truth.
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