Phytochemical screening and evaluation of antibacterial activity of different extracts of Ruta graveolens L - a medicinal plant

Ruta graveolens L. is aromatic shrub belongs to family rutaceae. It is ornamental and medicinal plant used in the treatment of inflammation, ulcer, hypotension, reproductive disorders, menstrual problems, parasitic infection, wounds and injuries. The plant extracts showed good antibacterial and antifungal properties. Sixty days old seedlings were collected and leaves were shade dried and powdered. 5 grams of powder extracted with 25 ml different solvents, ethanol, methanol, chloroform and distilled water. Crude solutions were further diluted to 1/10th and 1/100th with DMS. Antibacterial activity against Bacillus subtilis, Pseudomonas aeruginosa, E. coli and Staphylococcus aureus cultures were evaluated by disc diffusion methods on Muller Hinton agar. In our study methanol and chloroform extract recorded better antibacterial activity than ethanol extract at higher dilution. Chloroform and methanol extracts showed more antibacterial activity than ethanol at lower concentration, water extract doesn’t exert any activity. The phytochemical analysis of different solvent extracts of plant show considerable change in the nature of chemicals. Chloroform extract reported maximum number of secondary metabolites than remaining solvent

STUDY OF ENDOPHYTIC FUNGAL COMMUNITY FROM BARK OF VENTILAGO MADRASAPATNA GAERTN.

Endophytic fungi were isolated from the inner bark of Ventilago madrasapatna, a wellknown medicinal plant of India. It was investigated for endophytic mycoflora as a possible source of bioactive secondary metabolites. A total 66 isolates of 14 species belongs to 5 classes, were studied adopting a standard isolation protocol. The colonization frequency of the endophytic fungi was reported as 87.84%. Fungus composition included 6.25 % Eurotiomycetes, 9.3 % Dothideomycetes, 14.26% Soradariomycetes, 11.08 % Ascomycetes, 2.6 % Leotiomycetes and 1.3 % isolates were classified under Mycelia sterilia. The sterile endophytic fungi presently reported are expected to add to the list of new fungal species. Among the endophytic flora, Fusarium oxysporum was found to be the core-group fungus with a colonization frequency of 34.22%.Cladosporium cladosporiodes and Botrytis sp. are present only in bark of plant collected in Belur forest region. These results indicated that distribution of endophytic fungi is mainly influenced by environment factors

HUMAN SECRETORY PHOSPHOLIPASE A2 (sPLA2) INHIBITION BY AQUEOUS EXTRACT OF MACROTYLOMA UNIFLORUM (SEED) AS AN ANTI-INFLAMMATORY ACTIVITY

Objective: Macrotyloma uniflorum (Horse gram) is an important legume widely consumed in the tropical south Asian countries including India. The present investigation is the elucidation of anti-inflammatory activity of M. uniflorum as it has several medicinal properties. The M. uniflorum was evaluated for inhibition of human secretory phospholipase A2 (sPLA2) as a function of anti-inflammatory activity.Methods: The total phenols, antioxidant (DPPH scavenging), Anti-lipid peroxidation, PLA2 inhibition and lipoxygenase (5 & 15-LOX) inhibition activity of aqueous extracts of M. uniflorum coat and pulp were assayed by in vitro method. The aqueous extract of M. uniflorum seed coat was subjected to inhibit PLA2 enzymes from human inflammatory fluids (Human Synovial Fluid and Human Pleural Fluid) and snake venoms (Naja naja and Vipera russllii) using [14]C labeled E. coli by in vivo method. A further effect of substrate and calcium concentration on inhibition of VRV-PLA2 in presence and absence of M. uniflorum coat extract were assayed.Results: Aqueous coat extract of M. uniflorum shows higher phenolics and biological activity and inhibited all sPLA2 enzymes in concentration dependent manner. The IC50 values are found to be in the range of 11.42-20.88μg and IC50 values for 5-LOX and 15-LOX is 25.92μg and 32.47μg respectively. The extract effectively neutralized indirect hemolytic activity and showed similar potency in neutralizing the in vivo sPLA2 induced mouse paw edema.Conclusion: These findings suggest that, the active compound/s in extracts of M. uniflorum individually or synergistically responsible for observed sPLA2 inhibition.Â

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well characterised LGMD2G cases from 7 unrelated Dravidian families. Clinical examination revealed predominantly proximo - distal form of weakness, scapular winging, muscle atrophy, calf hypertrophy and foot drop, immunoblot showed either complete absence or severe reduction of telethonin. Genetic analysis revealed a novel nonsense homozygous mutation c.32C>A, p.(Ser11*) in three patients of a consanguineous family and an 8 bp homozygous duplication c.26_33dupAGGTGTCG, p.(Arg12fs31*) in another patient. Both mutations possibly lead to truncated protein or nonsense mediated decay. We could not find any functionally significant TCAP mutation in the remaining 6 samples, except for two other polymorphisms, c.453A>C, p.( = ) and c.-178G>T, which were found in cases and controls. This is the first report from India to demonstrate TCAP association with LGMD2G

Neuromuscular disease genetics in under-represented populations: increasing data diversity

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses \u27solved\u27 or \u27possibly solved\u27 ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% \u27solved\u27 and ∼13% \u27possibly solved\u27 outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses ‘solved’ or ‘possibly solved’ ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% ‘solved’ and ∼13% ‘possibly solved’ outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Conjunctival inclusion cysts following small incision cataract surgery

The occurrence of acquired conjunctival inclusion cysts following various ophthalmic surgeries such as strabismus surgery, scleral buckling, pars plana vitrectomy, ptosis surgery and phacoemulsification has been reported. We report two cases of conjunctival inclusion cysts following manual Small Incision Cataract Surgery (SICS) in two male patients aged 65 and 67 years. The cysts originated from the scleral tunnel used for manual SICS. Both were treated by excision and confirmed histopathologically. No recurrence was noted at three months follow-up. To our knowledge, conjunctival inclusion cysts following SICS have not been reported previously. Careful reflection of conjunctiva during tunnel construction and posterior chamber intraocular lens implantation may prevent their occurrence

GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India

Congenital heart disease (CHD) is the most common type of birth defect, affecting 1% of all live births. The recent exponential increase in the knowledge of medical genetics has revolutionized the understanding of CHDs during the past few decades. GATA4, a transcription factor, is involved in heart development. There are many contradictory reports on involvement of single-nucleotide polymorphisms (SNPs) of GATA4 in the manifestation of CHD. In view of this, an attempt has been made to analyze the known SNPs of GATA4 in Mysore patients with CHD. Of the 308 CHD patients recruited, 100 were screened for SNPs of GATA4 by MassARRAY, which identified 11 SNPs, of which 6 were found in both CHD cases and controls. The other 5 SNPs, c.278G> C (G93A), c.1207C>A (L403M), c.1232C>T (A411V), c.1295T>C (L432S), and c.1180C>G (P394A), were found only in CHD patients. Secondary structure analysis revealed that mutant proteins with the SNPs G93A, L403M, and L432S showed structural changes in their helix, sheet, and turn. Thus, these findings suggest the involvement of specific SNPs of GATA4 in the manifestation of CHD, reported for the first time in an Indian scenario. However, screening for a larger number of CHD patients would help us to establish genotype-phenotype correlation