Antioxidants are materials that scavenge or remove free radicals from living systems. The oxidation process ends in the production of free radicals. These free radicals are the chief birthplace of cancerous cells. Antioxidizing agents remove free radical intermediates by terminating oxidation processes by being oxidized themselves. On the other hand, infectious diseases affect the world on a large scale. To fight these diseases several synthetic compounds have been used. Plant based medications play important role in this regard. So, the current research aimed to investigate the antibacterial and antioxidant effect of Berberis lycium Royle root bark (BLR) extract. Berberis lycium Royle was used for phytochemical analysis and also as antimicrobial and antioxidant agents. The antimicrobial activity was evaluated by the agar well diffusion method. Current study revealed that BLR was rich in phytochemicals and toxic against tested pathogenic bacteria. BLR showed the highest activity against S. pyogenes (13.3±0.8 mm). The lowest antibacterial activity was reported against E. coli (0±0 mm). In case of minimum inhibitory concentration, it was observed that BLR with 10 μg/mL concentration showed the highest activity while 2.5 μg/mL of BLR showed the least inhibitory activity. The highest In vitro antioxidant activity was recorded as 65% at 100 µg/mL. In case of in vivo antioxidant activity level of CAT, GSH and SOD were decreased while that of MDA was enhanced in groups treated with CCl₄ as compared to the control group. BLR extract treatment reversed all these changes significantly. Current results indicate that BLR is effective against bacterial pathogens and also has antioxidant potential.

In clinical chemistry, frequent monitoring of drug levels in patients has gained considerable importance because of the benefits of drug monitoring on human health, such as the avoidance of high risk of over dosage or increased therapeutic efficacy. In this work, we demonstrate that the drug doxycycline can act as an Au nanoparticle (doxy-AuNP) growth and capping agent to enhance the response of a surface plasmon resonance (SPR) biosensor for this drug. SPR analysis revealed the high sensitivity of doxy-AuNPs towards the detection of free doxycycline. More specifically, doxy-AuNPs bound with protease-activated receptor-1 (PAR-1) immobilized on the SPR sensing surface yield the response in SPR, which was enhanced following the addition of free doxy (analyte) to the solution of doxy-AuNPs. This biosensor allowed for doxycycline detection at concentrations as low as 7 pM. The study also examined the role of colloidal stability and growth of doxy-AuNPs in relation to the response-enhancement strategy based on doxy-AuNPs. Thus, the doxy-AuNPs-based SPR biosensor is an excellent platform for the detection of doxycycline and demonstrates a new biosensing scheme where the analyte can provide enhancement.

Diabetes is a life-threatening disease, and chronic diabetes affects parts of the body including the liver, kidney, and pancreas. The root cause of diabetes is mainly associated with oxidative stress produced by reactive oxygen species. Minocycline is a drug with a multi-substituted phenol ring and has shown excellent antioxidant activities. The objective of the present study was to investigate the antidiabetic potential of minocycline-modified silver nanoparticles (mino/AgNPs) against alloxan-induced diabetic mice. The mino/AgNPs were synthesized using minocycline as reducing and stabilizing agents. UV-visible, FT-IR, X-ray diffraction (XRD), and transmission electron microscopy (TEM) were applied for the characterization of mino/AgNPs. A 2,2-diphenyl-1-picrylhydrazyl free radical scavenging assay was conducted to determine the antioxidant potential of newly synthesized mino/AgNPs. The results revealed that the mino/AgNPs showed higher radical scavenging activity (IC₅₀ = 19.7 µg/mL) compared to the minocycline (IC₅₀ = 26.0 µg/mL) and ascorbic acid (IC₅₀ = 25.2 µg/mL). Further, mino/AgNPs were successfully employed to examine their antidiabetic potential against alloxan-induced diabetic mice. Hematological results showed that the mice treated with mino/AgNPs demonstrated a significant decrease in fasting blood glucose level and lipid profile compared to the untreated diabetic group. A histopathological examination confirmed that the diabetic mice treated with mino/AgNPs showed significant recovery and revival of the histo-morphology of the kidney, central vein of the liver, and islet cells of the pancreas compared to the untreated diabetic mice. Hence, mino/AgNPs have good antidiabetic potential and could be an appropriate nanomedicine to prevent the development of diabetes.

Background. Bardet‐Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease‐causing variant/s in patients exhibiting clinical features of BBS. Methods. The identification of disease‐causing variant was done by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche NimbleGen). The identified variant was further validated by Sanger sequencing. Results. WES revealed a novel homozygous missense mutation (NM_031885: c.443A>T:p.N148I) in exon 3 of the BBS2 gene. Sanger sequencing confirmed this variant as homozygous in both affected subjects and heterozygous in obligate parents, demonstrating autosomal recessive inheritance pattern. To the best of our knowledge, this variant was not present in literature and all publically available databases. The candidate variant is predicted to be pathogenic by a set of in‐silico softwares. Conclusion. Clinical and genetic spectrum of BBS and BBS‐like disorders is not completely defined in the Pakistani as well as in Kashmiri population. Therefore, more comprehensive genetic studies are required to gain insights into genotype‐phenotype associations to facilitate carrier screening and genetic counseling of families with such disorders.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 )) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.