Targeted nanoliposomes to improve enzyme replacement therapy of Fabry disease.

The central nervous system represents a major target tissue for therapeutic approach of numerous lysosomal storage disorders. Fabry disease arises from the lack or dysfunction of the lysosomal alpha-galactosidase A (GLA) enzyme, resulting in substrate accumulation and multisystemic clinical manifestations. Current enzyme replacement therapies (ERTs) face limited effectiveness due to poor enzyme biodistribution in target tissues and inability to reach the brain.

XEN45 Implant in Medically Controlled vs. Uncontrolled Eyes-Differential IOP Changes in Real-Life Conditions.

To assess intraocular pressure (IOP) changes and complications after XEN45 implants in medically controlled eyes (MCE) vs. medically uncontrolled eyes (MUE). A retrospective study, in a tertiary referral hospital, on mild-to-moderate primary open-angle glaucoma (POAG) cases under topical medication, including 32 eyes with IOP < 21 mmHg (MCE group) and 30 eyes with IOP ≥ 21 mmHg (MUE group).

Treatment of Chronic Heart Failure in Advanced Chronic Kidney Disease: The HAKA Multicenter Retrospective Real-World Study.

Introduction: Chronic heart failure (HF) has high rates of mortality and hospitalization in patients with advanced chronic kidney disease (aCKD). However, randomized clinical trials have systematically excluded aCKD population. We have investigated current HF therapy in patients receiving clinical care in specialized aCKD units.

Practical Requirements for the Development of an Advanced Cardiorenal Unit.

Background: Heart failure is frequently associated with kidney disease, and patients with kidney disease are at increased risk of heart failure. The co-occurrence of both entities not only significantly increases morbidity and mortality but also complicates therapy.

Summary: Cardiorenal syndrome often requires a broad, comprehensive, and multidisciplinary approach.

Impact of Acetate versus Citrate Dialysates on Intermediary Metabolism-A Targeted Metabolomics Approach.

Acetate is widely used as a dialysate buffer to avoid the precipitation of bicarbonate salts. However, even at low concentrations that wouldn't surpass the metabolic capacity of the Krebs tricarboxylic acid (TCA) cycle, other metabolic routes are activated, leading to undesirable clinical consequences by poorly understood mechanisms. This study aims to add information that could biologically explain the clinical improvements found in patients using citrate dialysate.

Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion.

Surgical Management of Ocular Cicatricial Pemphigoid in a Pediatric Patient.

Purpose: The purpose of the report was to describe the first successful tarsal fracture surgery in a 1-year-old boy diagnosed with cicatricial ocular pemphigoid whose visual and psychomotor development were notably limited.

Methods: We present the case of a 1-year-old boy diagnosed with mucous membrane pemphigoid by biopsy who was treated with rituximab (375 mg/m 2 intravenous infusion at 2-week interval administered twice) and stable with oral dapsone (2 mg·kg -1 ·d -1 ). His eyelid cicatricial entropion and trichiasis in both eyes prevented him from opening his eyes, impeding visual development.

Determination of up to twenty carboxylic acid containing compounds in clinically relevant matrices by o-benzylhydroxylamine derivatization and liquid chromatography-tandem mass spectrometry.

Carboxylic acid containing compounds (R-COOH) are involved in a large number of biological processes and they are relevant for several pathological processes such as neurodegeneration or cancer. Comprehensive methodologies for the quantitative determination of R-COOH in biological samples are required. In this study we have developed a LC-MS/MS method for the quantification of 20 endogenous R-COOH belonging to different pathways such as kynurenine metabolism, serotoninergic pathway, glycolysis, tricarboxylic acid cycle, dopaminergic pathway, short chain fatty acids and glycine metabolism.

Application of Quality by Design to the robust preparation of a liposomal GLA formulation by DELOS-susp method.

Fabry disease is a lysosomal storage disease arising from a deficiency of the enzyme α-galactosidase A (GLA). The enzyme deficiency results in an accumulation of glycolipids, which over time, leads to cardiovascular, cerebrovascular, and renal disease, ultimately leading to death in the fourth or fifth decade of life. Currently, lysosomal storage disorders are treated by enzyme replacement therapy (ERT) through the direct administration of the missing enzyme to the patients.

Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion.

Improvements in Inflammation and Calcium Balance of Citrate versus Acetate as Dialysate Buffer in Maintenance Hemodialysis: A Unicentric, Cross-Over, Prospective Study.

Introduction: The composition of the dialysate is a crucial feature in the dialysis treatment. Two of its most debated elements are the optimal calcium concentration and the use of acetate as a buffer. Moreover, among the different alternatives to achieve acetate-free dialysis, the use of citrate is postulated as the most suitable option.

Transmucosal Boston Keratoprosthesis Type I in a Patient With Advanced Ocular Cicatricial Pemphigoid.

Purpose: To describe a novel surgical technique using the Boston Keratoprosthesis (KPro) type I in a patient with advanced ocular cicatricial pemphigoid (OCP) using oral mucosa for covering the prosthesis.

Methods: We present the case of an 85-year-old man previously diagnosed with type 2 diabetes and advanced OCP nonresponsive to immunosuppressive treatment, whose best-corrected visual acuity was light perception and projection in both eyes. After examination, Boston KPro type I in the right eye was contemplated because osteo-odonto KPro and Tibial bone KPro were not feasible because of the patient's osteoporosis and edentulism.

[Tunneled catheters. Complications during insertion].

Introduction: The creation of vascular accesses for hemodialysis in patients affected with terminal kidney failure affections, is presented periodically as a problem. Because of it, the availability of alternatives to the arteriovein fistula is something necessary; different types of tunnelled dialysis catheters are being developed, among which the Tesio catheter is the most well known and most widely utilized. Often it is implanted by vascular surgeons or radiologists; this creates dependence for the nephrology services that can delay obtaining the new vascular access and initiating or reinitiating the treatment.

A novel alcohol oxidase/RNA-binding protein with affinity for mycovirus double-stranded RNA from the filamentous fungus Helminthosporium (Cochliobolus) victoriae: molecular and functional characterization.

We have cloned and sequenced a novel alcohol oxidase (Hv-p68) from the filamentous fungus Helminthosporium (Cochliobolus) victoriae that copurifies with mycoviral double-stranded RNAs. Sequence analysis revealed that Hv-p68 belongs to the large family of FAD-dependent glucose methanol choline oxidoreductases and that it shares significant sequence identity (>67%) with the alcohol oxidases of the methylotrophic yeasts. Unlike the intronless alcohol oxidases from methylotrophic yeasts, a genomic fragment of the Hv-p68 gene was found to contain four introns.

Relationships between polydnavirus gene expression and host range of the parasitoid wasp Campoletis sonorensis.

To evaluate the relationship between immune suppression and host range six lepidopteran species were parasitized by the ichneumonid parasitoid Campoletis sonorensis. Parasitism inhibited the growth of permissive hosts (Heliothis virescens, Helicoverpa zea, and Trichoplusia ni), whereas growth of semi-permissive (Spodoptera exigua, Agrotis ipsilon) and non-permissive hosts (Manduca sexta) was not significantly affected. The 29-36 kDa ovarian protein (OP), responsible for transient immunosuppression in the permissive host H.

A cellular protein with an RNA-binding activity co-purifies with viral dsRNA from mycovirus-infected Helminthosporium victoriae.

A cellular protein that co-purifies with mycoviral dsRNA was isolated from the plant pathogenic fungus Helminthosporium victoriae (telomorph: Cochliobolus victoriae) infected with two viruses, the totivirus Helminthosporium victoriae 190S virus and the chrysovirus-like Helminthosporium victoriae 145S virus (Hv145SV). The cellular protein, which was, designated Hv-p68, accumulated to higher levels in virus-infected isolates compared to virus-free ones. The majority of the Hv145S dsRNAs were found in association with Hv-p68 and not packaged in virions.

Expression of the Totivirus Helminthosporium victoriae 190S virus RNA-dependent RNA polymerase from its downstream open reading frame in dicistronic constructs.

The undivided double-stranded RNA (dsRNA) genome of Helminthosporium victoriae 190S virus (Hv190SV) (genus Totivirus) consists of two large overlapping open reading frames (ORFs). The 5'-proximal ORF encodes a capsid protein (CP), and the downstream, 3'-proximal ORF encodes an RNA-dependent RNA polymerase (RDRP). Unlike the RDRPs of some other totiviruses, which are expressed as a CP-RDRP (Gag-Pol-like) fusion protein, the Hv190SV RDRP is detected only as a separate, nonfused polypeptide.

Assembly of the Hv190S totivirus capsid is independent of posttranslational modification of the capsid protein.

The genome of Helminthosporium victoriae 190S totivirus (Hv190SV) consists of two large overlapping open reading frames (ORFs), encoding a capsid protein (CP) and an RNA-dependent RNA polymerase. The capsid of Hv190SV, even though encoded by a single gene, contains three closely related capsid polypeptides: p88, p83, and p78. p88 and p83 are phosphorylated, whereas p78, which is derived from p88 via proteolytic processing at the C terminus, is nonphosphorylated.

Expression, assembly, and proteolytic processing of Helminthosporium victoriae 190S totivirus capsid protein in insect cells.

The dsRNA genome (5.2 kbp) of Helminthosporium victoriae 190S totivirus (Hv190SV) consists of two large overlapping open reading frames (ORFs). The 5' proximal ORF codes for the capsid protein (CP) and the 3' ORF codes for an RNA-dependent RNA polymerase.

Purification and analysis of a polydnavirus gene product expressed using a poly-histidine baculovirus vector.

The VHv1.1 polydnavirus gene has been implicated in suppressing the encapsulation response in parasitized insects [Li and Webb (1994) J. Virol.