Systematic characterisation, and effect of nutritional and physical parameters on culturability, laccase production and dye decolorisation potential by P. pistillaris from Pakistan.

Podaxis pistillaris is neutraceutically, cosmoceutically and medicinally recognised macrofungus. During this research work, this edible mushroom was systematically characterised. Its culturability, laccase production, and dye decolorisation potential were evaluated and optimised. Among the different media tested, PDA proved as most efficient medium for culturability of P. pistillaris. Conditions for laccase production were optimised in submerged state fermentation. Maximum laccase secretion was noted after 14th day of Incubation at 35 °C with 130 rpm and 5 pH of medium. Fructose and ammonium-phosphate was found as best carbon and nitrogen source, while wheat straw revealed as good ligno-cellulosic source for strengthening laccase production. Congo-red dye decolorisation capability by crude laccase enzyme was evaluated and found maximum decolorisation potential (92.2%) after 288h of incubation. From this pilot study, it was confirmed that this edible macrofungus has culturability, laccase production and dye decolorisation attributes that will further contribute in delignification, biosorption and bioremediation.

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up for 9 years. Linkage analysis was first completed in eight PCG-affected families, followed by whole-exome sequencing (WES) in family PKGM3. The following in silico tools were used to predict the pathogenic effects of identified variants: I-Mutant 2.0, SIFT, Polyphen-2, PROVEAN, mutation taster and PhD-SNP. After detecting an SLC4A11 variant in one family, detailed ophthalmic examinations were performed again to confirm the diagnosis. Six out of eight families had CYP1B1 gene variants responsible for PCG. However, in family PKGM3, no variants in the known PCG genes were identified. WES identified a homozygous missense variant c.2024A>C, p.(Glu675Ala) in SLC4A11. Based on the WES findings, the affected individuals underwent detailed ophthalmic examinations and were re-diagnosed with CHED2 leading to secondary glaucoma. Our results expand the genetic spectrum of CHED2. This is the first report from Pakistan of a Glu675Ala variant with CHED2 leading to secondary glaucoma. The p.Glu675Ala variant is likely a founder mutation in the Pakistani population. Our findings suggest that genome-wide neonatal screening is worthwhile to avoid the misdiagnosis of phenotypically similar diseases such as CHED2 and PCG.

Short to midterm follow-up of multi-system inflammatory syndrome in children with special reference to cardiac involvement.

OBJECTIVES: We aim to describe the early and upto 16 months follow-up of post-coronavirus disease (COVID), multi-system inflammatory syndrome in children (MIS-C), with special reference to cardiac involvement. STUDY DESIGN: This cohort non-interventional descriptive study included patients <18 years admitted between May, 2020 and April, 2021. Based on underlying similarities, children were classified as post-COVID MIS-C with overlapping Kawasaki Disease, MIS-C with no overlapping Kawasaki Disease, and MIS-C with shock. Post-discharge, patients were followed at 1, 3, 6, 12, and 16 months. RESULTS: Forty-one patients predominantly males (73%), at median age of 7 years (range 0.2-16 years) fulfilled the World Health Organisation criteria for MIS-C. Cardiac involvement was seen in 15 (36.5%); impaired left ventricle (LV) function in 5 (12.2%), coronary artery involvement in 10 (24.4%), pericardial effusion in 6 (14.6%) patients, and no arrhythmias. There were two hospital deaths (4.9%), both in MIS-C shock subgroup (2/10, 20%). At 1 month, there was persistent LV dysfunction in 2/5, coronary artery abnormalities in 7/10, and pericardial effusion resolved completely in all patients. By 6 months, LV function returned to normal in all but coronary abnormalities persisted in two patients. At last follow-up (median 9.8 months, interquartile range 2-16 months), in 36/38 (94.7%) patients, coronary artery dilatation was persistent in 2 (20%) patients. CONCLUSIONS: Children with MIS-C have a good early outcome, though MIS-C with shock can be life-threatening subgroup in a resource-constrained country setting. On midterm follow-up, there is normalisation of LV function in all and recovery of coronary abnormalities in 80% of patients.

Flexible Screen Printed Aptasensor for Rapid Detection of Furaneol: A Comparison of CNTs and AgNPs Effect on Aptasensor Performance.

Furaneol is a widely used flavoring agent, which can be naturally found in different products, such as strawberries or thermally processed foods. This is why it is extremely important to detect furaneol in the food industry using ultra-sensitive, stable, and selective sensors. In this context, electrochemical biosensors are particularly attractive as they provide a cheap and reliable alternative measurement device. Carbon nanotubes (CNTs) and silver nanoparticles (AgNPs) have been extensively investigated as suitable materials to effectively increase the sensitivity of the biosensors. However, a comparison of the performance of biosensors employing CNTs and AgNPs is still missing. Herein, the effect of CNTs and AgNPs on the biosensor performance has been thoughtfully analyzed. Therefore, disposable flexible and screen printed electrochemical aptasensor modified with CNTs (CNT-ME), or AgNPs (AgNP-ME) have been developed. Under optimized conditions, CNT-MEs showed better performance compared to AgNP-ME, yielding a linear range of detection over a dynamic concentration range of 1 fM-35 µM and 2 pM-200 nM, respectively, as well as high selectivity towards furaneol. Finally, our aptasensor was tested in a real sample (strawberry) and validated with high-performance liquid chromatography (HPLC), showing that it could find an application in the food industry.

Juvenile rheumatoid arthritis.

OBJECTIVE: To determine the spectrum of clinical presentation, laboratory parameters and drug therapy in patients with Juvenile Rheumatoid Arthritis (JRA). STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: The Children's Hospital and The Institute of Child Health, Lahore, from October 2008 to October 2011. METHODOLOGY: All patients who fulfilled the American College of Rheumatology criteria for JRA were enrolled. Their clinical features, investigations done and treatment received for JRA were noted. Statistical analysis of data was done on SPSS version 16.0 for obtaining descriptive statistics. RESULTS: Out of 185 patients, 50.3% (n = 93) were females; 54% (n = 100) were between 10 - 15 years of age. Polyarthritis was found in 71.9% (n = 133) followed by oligoarthritis (22.7%, n = 42) and systemic onset disease (5.4%, n = 10). Morning stiffness (78%) and fever (68%) were the most common clinical presentations. All patients with systemic onset disease had fever (n = 10) followed by skin rash, hepatosplenomegaly and lymphadenopathy. Uveitis was found in 2 patients, and both belonged to the oligoarticular group. Rheumatoid factor was found in 10.27% (n = 19) of all patients. All patients were given non-steroidal anti-inflammatory drugs (NSAIDs). Disease modifying agents (methotrexate) were given to 43.8% (n = 81). Steroids were used in 61% (n = 113) of patients either with NSAIDs alone or NSAIDs plus methotrexate. CONCLUSION: Disease profile of JRA at the study centre showed that polyarthritis is the commonest type. Recognition of subtypes will help in planning the management of these patients.