Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene. METHODS: 13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography. RESULTS: Ocular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the “Old Order River Brethren” who were of Swiss descent, in whom the mutation was first described. CONCLUSION: The evolution of a new phenotypic picture is presented to a mutation in LCA5

Trophic State Index, morphoedaphic index and fish yield prediction in a sub-tropical lake, Manchar (Sindh), Pakistan

Limnological factors of a sub-tropical lake Manchar were studied on seasonal basis. The mean values of various parameters were: transparency, (secchi disc reading): 90.5 cm, Orthophosphate: 0.257 mg/l, TDS: 3310,5 mg/l, Conductivity: 5232 µs/l, Total Chlorophyll (Planktonic): 31.3 µg/l Planktonic biomass: 5466 µg/l. Trophic state index (TSI) was calculated by using Carlson's (1977) equations. Mean TSI for transparency was 61, while for orthophosphate and chlorophyll, it was 82 and 64 respectively. TSI values indicate advanced eutrophic state of Manchar Lake. Morphoedaphic index (MEI) was also calculated on seasonal basis. The mean values were, TDS: 1103, conductivity: 1744, alkalinity: 60, transparency: 29 and biomass (plankton dry weight): 1746. Fish yield prediction for Manchar Lake (Z =3m, mean area=100 km²) was calculated by using MEI values. The results were quite different among various parameters. Conductivity (89.1mt/y), biomass (67.6 mt/y) and TDS (44.6 mt/y) were found to be good predictors of fish yield. Chlorophyll, transparency and alkalinity values gave very low estimate

Lamproglena notopterai sp. nov.- a copepod parasite from a freshwater fish of Sindh, Pakistan

The study was conducted at the Central Experimental Station, Philippine Rice Research Institute, Maligaya, Science City of Munoz, Nueva Ecija, Philippines during the wet season to determine the suitable stocking density(s) for better growth and yield of fish under rice-fish production systems. Recovery rate of GIFT tilapia in different stocking densities ranged from 75.74 to 83.47%. Among different treatments, rice +5,000 fingerlings/ha and rice +10,000 fingerlings/ha resulted in the highest recovery rate of 83.33% and 83.47%, respectively. The lowest recovery rate of 75.75% was obtained from rice +20,000 fingerlings/ha, but similar to that was obtained (78.56%) from rice +15,000 fingerlings/ha. Significantly higher rate of gain in body weight and that of specific growth rate were recorded in the treatment from rice +5,000 fingerlings/ha, while other treatments resulted in similar absolute and specific growth rate. Fish yield increased significantly with relatively higher stocking densities, but higher densities produced maximum number of smaller fishes and also lower recovery rate

ETHNOPHARMACOLOGICAL STUDIES OF Polypodium vulgare Linn. : A COMPREHENSIVE REVIEW

Polypodium vulgare Linn. commonly called as Bisfaij is a medicinal plant which is used in various ailments. It is one of the most archaic and essential plant, belonging to the family Polypodiaceae. It contains organic substances such as resin, tannins, steroids, flavonoids, alkaloids, glycosides, protein, reducing sugar and inorganic substances like calcium, magnesium, potassium, sulphur, iron and chloride. It is used in Unani system of medicine for the treatment of sorethroat, stomach-aches, leprosy, melancholia, spleenomegaly, haemorrhoids, rheumatic swelling of the joints etc. Besides this, it has other pharmacological activities too such as antiepileptic, neuro-psychopharmacological, antipyretic, antibiotic, antiviral etc. This review paper discuses the medicinal values of Polypodium vulgare Linn. in Unani medicine as well as its modern pharmacology and gives a new impetus to utilize Bisfaij in various disorders. Keywords: Bisfaij, Polypodium vulgare Linn, Phytopharmacology, Unani Medicine

Risk factors and outcomes associated with recurrent autoimmune hepatitis following liver transplantation

Background & Aims: Autoimmune hepatitis can recur after liver transplantation (LT), though the impact of recurrence on patient and graft survival has not been well characterized. We evaluated a large, international, multicenter cohort to identify the probability and risk factors associated with recurrent AIH and the association between recurrent disease and patient and graft survival.Methods: We included 736 patients (77% female, mean age 42 +/- 1 years) with AIH who underwent LT from January 1987 through June 2020, among 33 centers in North America, South America, Europe and Asia. Clinical data before and after LT, biochemical data within the first 12 months after LT, and immunosuppression after LT were analyzed to identify patients at higher risk of AIH recurrence based on histological diagnosis.Results: AIH recurred in 20% of patients after 5 years and 31% after 10 years. Age at LT <= 42 years (hazard ratio [HR] 3.15; 95% CI 1.22-8.16; p = 0.02), use of mycophenolate mofetil post-LT (HR 3.06; 95% CI 1.39-6.73; p = 0.005), donor and recipient sex mismatch (HR 2.57; 95% CI 1.39-4.76; p = 0.003) and high IgG pre-LT (HR 1.04; 95% CI 1.01-1.06; p = 0.004) were associated with higher risk of AIH recurrence after adjusting for other confounders. In multivariate Cox regression, recurrent AIH (as a time-dependent covariate) was significantly associated with graft loss (HR 10.79, 95% CI 5.37-21.66, p <0.001) and death (HR 2.53, 95% CI 1.48-4.33, p = 0.001).Conclusion: Recurrence of AIH following transplant is frequent and is associated with younger age at LT, use of mycophenolate mofetil post-LT, sex mismatch and high IgG pre-LT. We demonstrate an association between disease recurrence and impaired graft and overall survival in patients with AIH, highlighting the importance of ongoing efforts to better characterize, prevent and treat recurrent AIH.Lay summary: Recurrent autoimmune hepatitis following liver transplant is frequent and is associated with some recipient features and the type of immunosuppressive medications use. Recurrent autoimmune hepatitis negatively affects outcomes after liver transplantation. Thus, improved measures are required to prevent and treat this condition. (C) 2022 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.Cellular mechanisms in basic and clinical gastroenterology and hepatolog