BackgroundHypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH). However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. The objective of this study was to report the frequency and spectrum of variants in LDLR in a cohort of Sri Lankan patients with FH.MethodsA series of consecutive patients with FH, diagnosed according to Modified Simon Broome criteria or Dutch Lipid Clinic Network criteria at the University Medical Unit, Colombo, were recruited. Clinical data was recorded. DNA was extracted from peripheral blood samples. The LDLR gene was screened for genetic variants by Sanger sequencing.ResultsA total of 27 patients [13 (48%) males, 14 (52%) females; age range 24–73 years] were tested. Clinical features found among these 27 patients were: xanthelasma in 5 (18.5%), corneal arcus in 1 (3.7%), coronary artery disease (CAD) in 10 (37%), and a family history of hypercholesterolemia and/or CAD in 24 (88.9%) patients. In the entire cohort, mean total cholesterol was 356.8 mg/dl (±66.4) and mean LDL-cholesterol was 250.3 mg/dl (±67.7). Sanger sequencing of the 27 patients resulted in the identification of known pathogenic missense mutations in 5 (18.5%) patients. Four were heterozygotes for 1 mutation each. They were c.682G > C in 2 patients, c.1720C > A in 1 patient, and c.1855 T > A in 1 patient. One patient with severe FH phenotypes was a compound heterozygote for one known mutation, c.2289G > T, and another missense variant, c.1670C > G (p.Thr557Ser), with unknown functional impact. This latter variant has not been reported in any other population previously.ConclusionsThe frequency of known mutations in the LDLR gene in this cohort of patients was markedly low compared to frequencies reported in other populations. This highlights the likelihood of a complex, polygenic inheritance of FH in Sri Lankan patients, indicating the need for a comprehensive genetic evaluation that includes the screening for mutations in other genes that cause FH, such as APOB, PCSK9, and LDLRAP1.
A 74-year-old previously healthy woman was bitten by a hump-nosed pit viper (Hypnale hypnale) at dusk causing incoagulable blood lasting for 6 days. Further, she developed ecchymoses over her forearms, upper arms, hands, and lower back on day 4 after the snakebite, and microangiopathic hemolytic anemia (MAHA). Features of this nature are rare after hump-nosed pit viper bite.
Background The Sri Lankan traditional betel quid (TBQ) which had been extensively used in the country before its colonization is claimed to have antiperiodontopathic effects in the Sri Lankan folklore. However, there is no reported scientific evidence to support the claimed antiperiodontopathic effects mediated by this TBQ. The present study was carried out to investigate the protective effect of the Sri Lankan TBQ in the pathogenesis of periodontitis. Methods We investigate the ethyl acetate extract of the Sri Lankan TBQ for its antibacterial effects against the keystone periodontopathic bacterium, P. gingivalis and also its antioxidant potential, which is important to protect the periodontium from oxidative stress. Further, its safety was analyzed using the cytokinesis block micronucleus assay on human peripheral blood lymphocytes (PBLs). Results Ethyl acetate extract of this TBQ inhibited the growth of P. gingivalis with a minimum bactericidal concentration (MBC) of 125 μg/ml. It was found to be a rich source of polyphenols and displayed considerable DPPH and ABTS radical scavenging activities and a strong ferric reducing antioxidant power. This extract could protect the cultured human gingival fibroblasts from H 2 O 2 induced oxidative stress. In addition, this TBQ extract was not genotoxic to human PBLs even at a concentration of 2.5 mg/ml. Moreover, it exhibited protective effects against bleomycin induced genotoxicity in PBLs. Conclusion Ethyl acetate extract of the Sri Lankan TBQ is a source of natural antibacterial compounds against P. gingivalis . It is also a source of natural antioxidants which can protect human gingival fibroblasts from H 2 O 2 induced oxidative stress. These properties of the TBQ may have contributed to its claimed antiperiodontopathic effects. Besides, it was found to be relatively non-toxic to human cells. Thus this TBQ extract has a huge potential to be developed as a novel adjunctive therapeutic lead against periodontitis.
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.
Rickettsioses are a group of emerging diseases caused by closely related bacteria. In Sri Lanka, to date, studies have been focused mainly on human subjects. The present study aimed to identify small mammal reservoir hosts and vectors of Rickettsia spp. and Orientia tsutsugamushi in two districts of Sri Lanka. Quantitative-PCR was carried out to detect Rickettsia using citrate synthase gene and Orientia using 47-kD outer membrane protein antigen gene in blood of small rodents and their infested ectoparasites. In both districts ~7.5% blood samples were positive for Rickettsia. Rattus rattus, Bandicota indica and Mus fernandoni were carriers. Three individuals of Suncus murinus, B. indica and Golunda ellioti had only infected ectoparasites. Copies of gltA/100 µL ranged from 133-1.2 × 10 4 in blood and 197-1.9 × 10 7 in ectoparasites. Of small mammals with ectoparasites, 43% had Rickettsia positive ectoparasites. Rhipicephalus haemaphysaloides, Ixodes ceylonensis, Haemaphysalis spinigera, Haemaphysalis spp., Stivalius aporus and Xenopsylla cheopis were positive. All study sites except three had infected small mammals or ectoparasites. All samples were negative for O. tsutsugamushi. This is the first study to report Rickettsia spp. in small mammals and their ectoparasites in Sri Lanka. Haemaphysalis spinigera, I. ceylonensis and S. aporus are new records of vectors for Rickettsia. This is also the first report of endemic M. fernandoni as a carrier of Rickettsia and G. ellioti with Rickettsia infected ectoparasites. Though rickettsiosis is not life threatening in most cases, it can lead to severe or fatal disease in vertebrate animals and humans. Hence, the knowledge of the distribution of said pathogen in the reservoirs is essential to control the disease.
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