Dineshani Hettiaracchchi

Despite Sri Lanka’s long-standing success in reducing maternal and neonatal mortality, progress has stagnated in recent decades. Conventional surveil

Background: In recent years, antibiotic resistance has emerged as a global health concern in bacterial infections such as urinary tract infections (UTIs). Uropathogenic Escherichia coli is the most frequent organism responsible for both simple and complex UTIs. Staphylococcus aureus and Pseudomonas aeruginosa are frequently associated with complicated UTIs. Sri Lanka has significant resources of medicinal plants used to cure UTIs in Ayurvedic and traditional medicine. Methods: Agar well diffusion and broth microdilution methods were used to determine the antibacterial activity of the methanolic extract of ten medicinal plants against P. aeruginosa ATCC27853, S.aureus ATCC25923, E.coli ATCC25922 and their UTI positive strains extracted from positive culture plates. As a preliminary toxicity assay, the Brine Shrimp Lethality Assay (BSLA) was used to determine its cytotoxicity. Results: The methanolic fruits extract of P. emblica demonstrated the highest antibacterial activity against both E. coli ATCC25922 and E. coli UTI-positive strains. B. diffusa roots extract exhibited the highest activity against S. aureus ATCC25923, while T. chebula fruits extract showed the highest activity against the S. aureus UTI-positive strain. T. involucrata roots extract displayed the highest activity against P. aeruginosa ATCC27853, and Z. officinale rhizomes extract showed the highest activity against the P. aeruginosa UTI-positive strain. Moreover, the plant mixture showed the most substantial antibacterial effect against P. aeruginosa ATCC27853. However, the methanolic seed extract of C. melo did not exhibit any antimicrobial effects against the selected organisms. All plant material, including the plant mixture, showed cytotoxicity according to the BSLA. Conclusion: All the methanolic extracts including P. emblica fruits, O. tenuiflorum whole plant, T. chebula fruits, Z. officinale rhizome, T. terrestris roots, T. involucrata roots, A. lanata whole plant. B. diffusa roots and A. falcatus roots showed antimicrobial effects against selected strains except C. melo seed extract. The results of the present study evidently supports the traditional and ayurvedic use of these plants for the treatment of UTIs. This paves the way for another praise for new plant-based therapeutic product development for the treatment of UTIs. However, further toxicity studies are needed for medicinal dose determination.

Introduction: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare autosomal dominantly inherited cancer predisposing syndrome giving rise to cutaneous and uterine leiomyomatosis, leiomyosarcoma and renal cell cancer. Patients with this syndrome harbours germline pathogenic variants in the fumarate hydratase (FH) gene.Case presentation: A 28-year-old Sri Lankan female, a product of a consanguineous marriage with strong family history of young onset fibroids presented with progressive dysmenorrhea, menorrhagia and irregular menstrual cycles for 2 years duration. There was recent onset lower abdominal colicky pain lasting for 3-5 min occurring during the post coital and intermenstrual period over 2 months. Examination did not reveal abnormal skin lesions or abdominal masses.Ultrasound examination revealed enlarged uterus with 2 large fibroids in the posterior wall and fundus of the uterus. She underwent laparoscopic myomectomy without perioperative complications. Histology revealed a leiomyoma with morphological features supporting the variant “fumarate hydratase deficient leiomyoma”.Whole exome sequencing of the patient revealed her to be harbouring a pathogenic variant c.878T>G| p:Val293Gly in the FH gene for which she was heterozygous confirming that she had inherited the cancer predisposing syndrome of hereditary leiomyomatosis and renal cell cancer(HLRCC). Postoperatively her symptoms resolved, and she was able to sustain an uncomplicated pregnancy one year after. Currently she is closely followed up for future development of tumors including renal cell cancer bothclinically and via imaging.Conclusion: HLRCC is a rare autosomal dominantly inherited cancer syndrome predisposing to skin, uterine and renal tumors warranting surveillance at a younger age.

Introduction: Venous leg ulcers are the commonest type of chronic lower leg ulcers worldwide. It impacts the patient’s quality of life significantly. Our objective was to assess current evidence onusing human amniotic membranes (HAM) in venous leg ulcer management. Methods: Google Scholar, PubMed, and the Cochrane library were utilized to search the following search terms (MeSH terms in PubMed) in the abstract field or in the title, “Amnion” OR “Placenta” AND “Varicose ulcer “OR “Stasis ulcer” OR “Chronic venous ulceration” in studies published until the 1st of March 2022. We used standard methods to assess the quality of the published articles. The articles thus included were cohort studies (both retrospective and prospective) and randomized control trials. Results: When the above criteria were used in the search, 12, 8, 15,6, and 4 citations were found in MEDLINE, Cochrane Library, Google Scholar, Embase, and Web of Science respectively. The 15 nonduplicate studies were screened with the inclusion and exclusion criteria, we selected 7 studies for this review. However, the amniotic membrane preparations used in these studies were not uniform. All randomized controlled trials (n=3) have concluded that there is an improvement in healed ulcer percentage at the end of the study in the interventional group when compared to the control group, which was statistically significant (p<0.05%). The percentage of ulcers that had healed at the end study was 60% in interventional groups of the above trials. One prospective study showed that the recurrence rate was less than 30% at a 3-year follow-up examination. We couldn't perform a meta-analysis due to study heterogeneity. Conclusion: Current scientific evidence indicates that amniotic membrane preparations can be utilized in promoting chronic forms of venous leg ulcers adjunctive to traditional treatment or as second-line therapy.

The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits. Currently, there is a paucity of knowledge regarding the exact developmental mechanism leading to this condition. The best studied canonical interactions of Wingless‐type–Bone Morphogenic Protein–Fibroblast Growth Factor (WNT–BMP–FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. Animal studies have displayed other pathways such as the Notch signaling, metalloprotease and non-canonical WNT-Planar cell polarity (PCP), to also contribute to failure of ICD, although less prominence has been given. The current diagnosis is based on a clinical evaluation followed by radiography when indicated, and surgical release of digits at 6 months of age is recommended. This review discusses the interactions repressing ICD in syndactyly, and characterizes genes associated with non-syndromic and selected syndromes involving syndactyly, according to the best studied canonical WNT-BMP-FGF interactions in humans. Additionally, the controversies regarding the current syndactyly classification and the effect of non-coding elements are evaluated, which to our knowledge has not been previously highlighted. The aim of the review is to better understand the developmental process leading to this condition.

Background: Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including neurovascular diseases. Biallelic pathogenic variants in the pericentrin gene (PCNT) have been implicated in its pathogenesis. Case presentation: We performed whole-exome sequencing to ascertain the diagnosis of a 2 year and 6 months old boy who presented with severe failure to thrive, microcephaly, and facial gestalt suggestive of MOPD Type II which included features such as retrognathia, small ears, prominent nasal root with a large nose, microdontia, sparse scalp hair, bilateral fifth finger clinodactyly. He had a small ostium secundum atrial septal defect and bilaterally small kidneys. Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II was confirmed based on a pathogenic compound heterozygous frameshift variant in the PCNT gene c.5059_5060delAA | p. Asn1687fs (novel variant) and c.9535dup (p. Val3179fs). His parents were found to be heterozygous carriers for the variants. Conclusion: We report a novel frameshift variant in the PCNT gene and a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.

Globally, an estimated one million deaths occur annually due to complications of cirrhosis. Cirrhosis with end stage liver disease [ESLD] is a leading cause death due to noncommunicable diseases in Sri Lanka. Non-alcoholic fatty liver disease [NAFLD] and alcohol related liver disease [ARLD] are the principal causes of ESLD due to cirrhosis in Sri Lanka. Liver transplantation remains the only curative treatment for such patients. Multiorgan dysfunction and hemodynamic instability characteristic of ESLD adds to the complexity of perioperative care in liver transplantation. Maintenance of stable hemodynamics including optimal hemostasis forms the core of the anaesthetic strategy in liver transplantation.