Review Article SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutations in SLC4A11 which encodes a transmembrane protein in the SLC4 family of bicarbonate transporters. The expression of SLC4A11 in the corneal endothelium and inner ear patterns the deficits seen in CHED with corneal edema and hearing loss (Harboyan syndrome). slc4a11-null-mouse models recapitulate the CHED disease phenotype, thus establishing a functional role for SLC4A11 in CHED. However, the transport function of SLC4A11 remains unsettled. Some of the roles that have been attributed to SLC4A11 include H + and NH 4 + permeation, electrogenic Na + -H + exchange, and water transport. Future studies of the consequences of SLC4A11 dysfunction as well as further understanding of corneal endothelial ion transport will help clarify the involvement of SLC4A11 in the pathophysiology of CHED

Validirane RP-RP-HPLC i TLC metode za simultano određivanje tamsulozin hidroklorida i finasterida u istom dozirnom pripravku

Reversed phase high-performance liquid chromatography (RP-HPLC) and thin-layer chromatography (TLC) methods have been developed and validated for simultaneous estimation of tamsulosin hydrochloride and finasteride in bulk drug and in combined dosage forms. RP-HPLC separation was achieved on a Phenomenex C18 column using methanol/0.02 mol L-1 ammonium acetate buffer/triethylamine (79.9 + 20 + 0.1, V/V/V) (pH 9.2) as mobile phase. The TLC separation was achieved on an aluminium-backed layer of silica gel 60F254 using toluene/methanol/triethylamine (9 + 1.5 + 1, V/V/V) as eluent. Quantification was achieved with photodiode array (PDA) detection at 235 nm over the concentration range 0.5–16 and 150 µg mL1 with mean recovery of 99.8 ± 0.9 and 100.0 ± 0.8 % for tamsulosin hydrochloride and finasteride, respectively, by the RP-HPLC method. Quantification was achieved with UV detection at 270 nm over the concentration range 100–2000 ng per spot and 250–5000 ng per spot with mean recovery of 98.9 ± 0.9 and 99.6 ± 0.7 % for tamsulosin hydrochloride and finasteride, respectively, by the TLC method. Both methods are simple, precise, accurate and sensitive and are applicable to the simultaneous determination of tamsulosin hydrochloride and finasteride in bulk drug and in combined dosage forms.U radu su opisani razvoj i validacija inverzno fazne kromatografije visoke učinkovitosti (RP-HPLC) i tankoslojne kromatografije (TLC) za simultano određivanje tamsulozin hidroklorida i finasterida kao čistih supstancija i u kombiniranim tabletama. Za RP-HPLC odjeljivanje korištena je Phenomenex C18 kolona (250 mm, 4,6 mm, 5 µm) i metanol/0,02 mol L–1 pufer s amonijevim acetatom/trietilamin (79,9+20+0,1, V/V/V) (pH 9,2) kao pokretna faza, pri protoku 1 mL min-1. TLC odjeljivanje rađeno je na silikagelu 60F254 na aluminijskoj podlozi, koristeći toluen/metanol/trietilamin (9+1,5+1, V/V/V) kao eluens. Za detekciju u RP-HPLC metodi korištena je fotodioda (PDA) pri 235 nm te je provedena kvantitacija u koncentracijskom području 0,5–16 µg mL–1 i 1–50 µg mL–1, uz srednji analitički povrat od 99,8 ± 0,9 % za tamsulozin hidroklorid i 100,0 ± 0,8 % za finasterid. Za kvantitaciju u TLC metodi korištena je UV detekcija pri 270 nm u koncentracijskom području 100–2000 ng po točki za tamsulozin hidroklorid i 250–5000 ng po točki za finasterid, uz srednji analitički povrat od 98,9 ± 0,9, odnosno 99,6 ± 0,7 %. Obje metode su jednostavne, precizne, točne i osjetljive i mogu se primijeniti za simultano određivanje tamsulozin hidroklorida i finasterida kao čistih supstancija i u kombiniranim dozirnim oblicima

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutations in SLC4A11 which encodes a transmembrane protein in the SLC4 family of bicarbonate transporters. The expression of SLC4A11 in the corneal endothelium and inner ear patterns the deficits seen in CHED with corneal edema and hearing loss (Harboyan syndrome). slc4a11-null-mouse models recapitulate the CHED disease phenotype, thus establishing a functional role for SLC4A11 in CHED. However, the transport function of SLC4A11 remains unsettled. Some of the roles that have been attributed to SLC4A11 include H+ and NH4+ permeation, electrogenic Na+-H+ exchange, and water transport. Future studies of the consequences of SLC4A11 dysfunction as well as further understanding of corneal endothelial ion transport will help clarify the involvement of SLC4A11 in the pathophysiology of CHED

Risk assessment of variant Creutzfeldt-Jakob disease in corneal transplantation

Purpose: While corneal transplantation is known to have a potential risk of transmission of variant Creutzfeldt-Jacob Disease (vCJD), the magnitude of this risk has not been quantified. Observations: A case report is presented of a 73 year-old man with a penetrating keratoplasty graft from corneal tissue that was recalled after transplantation due to risk of vCJD because it was later discovered that the donor had traveled to the United Kingdom (UK). Probabilities of vCJD transmission were extrapolated using Creutzfeldt-Jacob Disease (CJD) mortality (incidence) rate, all-cause death rate, and rate of recovery for intended transplantation. Conclusions: An overestimate of the risk of transplanting a cornea infected with vCJD in 2018 was 1 in 940,000. The true risk of vCJD transmission would be even lower due to an incomplete infectivity rate. We conclude that the risk of transmission of latent vCJD by corneal transplantation from a donor who traveled to the UK from 1980 to 1996 is exceedingly low

EFFECT OF GYPSUM APPLICATION AND LEACHING ON THE RECLAMATION OF SODIC VERTISOL AND CROP PRODUCTION

The field experiment on reclamanation of moderately sodic soil was conducted to study the effect of gypsum levels on soil properties improvement, and growth and yield of maize. The gypsum application@ 75% G.R. followed by adequate leaching gave maximum yield of fodder maize. It was also observed that the amount of salt removal and ESP decreased considerably with the increments in gypsum application rate. The salts of 1359 kg/ha were removed from the soil depth of 90 cm due to gypsum application as per the Schoonover\u27s method

Oral guaifenesin for treatment of filamentary keratitis: A pilot study

Purpose: Pilot study to evaluate the safety and efficacy of oral guaifenesin in reducing the signs and symptoms of filamentary keratitis.Methods: Prospective, uncontrolled open-label pilot study. Twelve patients with non-Sjogren dry eye disease (DED) and secondary filamentary keratitis received treatment with oral guaifenesin 600 mg twice a day (total dose of 1.2 g/day) for 4 weeks. Adverse events, change in the number of corneal filaments, corneal fluorescein staining (CFS; NEI grading system), and symptoms (Ocular Surface Disease Index) were assessed.Results: Before starting oral guaifenesin, all patients were on topical medical therapy for their condition. At baseline, the mean number of filaments was 5.8 +/- 2.9, CFS score 7.3 +/- 3.2, and OSDI score 55.6 +/- 25. After 4 weeks of treatment, the number of filaments was 2.1 +/- 2.2 (p = 0.04 vs. baseline), CFS score 6.5 +/- 3.1 (p = 0.5), and OSDI score 46.1 +/- 30.9 (p = 0.2). One patient discontinued the medication due to gastrointestinal side effects.Conclusions: Oral guaifenesin was safe and generally well tolerated, and demonstrated modest efficacy in reducing the severity of filamentary keratitis. These results should be considered preliminary; however, placebo-controlled investigations would be justified to evaluate the therapeutic efficacy of oral guaifenesin as a mucolytic in treatment of filamentary keratitis

Water pollution of Sabarmati River—a Harbinger to potential disaster

River Sabarmati is one of the biggest and major river of Gujarat that runs through two major cities of Gujarat, Gandhinagar and Ahmedabad and finally meets the Gulf of Khambhat (GoK) in the Arabian Sea. A study was conducted to evaluate the water quality of this river, as it could possibly be one of the major sources for filling up Kalpasar, the proposed man-made freshwater reservoir supposed to be the biggest one in the world. A total of nine sampling stations were established covering 163 km stretch of the river from upstream of Gandhinagar city to Vataman near Sabarmati estuary. Physicochemical (temprature, pH, salinity, chloride, total dissolved solids, turbidity, dissolved oxygen, biochemical oxygen demand, phenol, and petroleum hydrocarbons), biological (phytoplankton), and microbiological (total and selective bacterial count) analyses indicated that the river stretch from Ahmedabad-Vasana barriage to Vataman was highly polluted due to perennial waste discharges mainly from municipal drainage and industries. An implementation of sustainable management plan with proper treatment of both municipal and industrial effluents is essential to prevent further deterioration of the water quality of this river