Relation between high serum hepcidin-25 level and subclinical atherosclerosis and cardiovascular mortality in hemodialysis patients

Conclusion: This study suggests that hepcidin is effective in cardiovascular mortality and pathophysiology of subclinical atherosclerosis in HD patients

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

The relationship between cognitive impairment and fatty acids and carnitine in hemodialysis patients

Background/Aim: The prevalence of cognitive impairment (CI) is high in hemodialysis patients. In this study, the relationship between CI and serum carnitine, plasma omega-3, omega-6 and omega-3/omega-6 fatty acid ratio was evaluated in hemodialysis patients. Materials and methods: Sixty two patients [male: 40 (64.5%), mean age 51 ±13 years] were included in this cross-sectional study. Serum total and free-carnitine levels were determined by ELISA. Plasma omega-3 [eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA)] and omega-6 [arachidonic acid (AA), dihomo gamma linoleic acid (DGLA)] levels were measured using LC-ESI-MS/MS. According to the Montreal Cognitive Assessment (MoCA) scores, ≤24 points were considered as CI. MoCA score ≤24 and >24 were determined as Group 1 and Group 2, respectively. Results: Group 1 had significantly higher AA + DGLA/EPA + DHA ratios and lower free-carnitine, DHA and EPA + DHA levels compared to Group 2 (P = 0.008, P = 0.040, P = 0.032, P = 0.032, respectively). Group 1 had a statistically lower education level (P 24 se determinaron como grupo 1 y grupo 2, respectivamente. Resultados: El grupo 1 tenía proporciones de AA + DGLA/EPA + DHA significativamente más altas y niveles más bajos de carnitina libre, DHA y EPA + DHA en comparación con el grupo 2 (p = 0,008, p = 0,040, p = 0,032 y p = 0,032, respectivamente). El grupo 1 tenía un nivel educativo estadísticamente más bajo (p < 0,05). Se descubrió una correlación negativa entre las puntuaciones de MoCA y las proporciones AA + DGLA/EPA + DHA (rs = −0,284, p = 0,026). Los niveles de carnitina libre se correlacionaron positivamente con los niveles de EPA y EPA + DHA (rs = 0,278, p = 0,030, y rs = 0,271, p = 0,034, respectivamente), y negativamente con las proporciones AA + DGLA/EPA + DHA (rs = −0,414, p = 0,001). En el análisis de regresión logística multivariante las puntuaciones de MoCA se asociaron con las proporciones AA + DGLA/EPA + DHA (p = 0,009) y con el nivel educativo (p < 0,001). Conclusión: Se determinó que una alta relación AA + DGLA/EPA + DHA y un bajo nivel educativo podrían ser factores de riesgo independientes del CI. Se ha demostrado que el nivel de carnitina libre puede tener efectos positivos en las distribuciones plasmáticas de EPA + DHA y AA + DGLA. Los niveles bajos de ácidos grasos omega-3 pueden estar asociados con el CI en pacientes en hemodiálisis, y los niveles bajos de carnitina pueden contribuir parcialmente a este proceso. Además, los programas de educación cognitiva pueden tener un efecto en la prevención del CI en pacientes en hemodiálisis con bajos niveles educativos

Cadmium sulfide-induced toxicity in the cortex and cerebellum: In vitro and in vivo studies

Living organisms have an innate ability to regulate the synthesis of inorganic materials, such as bones and teeth in humans. Cadmium sulfide (CdS) can be utilized as a quantum dot that functions as a unique light-emitting semiconductor nanocrystal. The increased use in CdS has led to an increased inhalation and ingestion rate of CdS by humans which requires a broader appreciation for the acute and chronic toxicity of CdS. We investigated the toxic effects of CdS on cerebellar cell cultures and rat brain. We employed a ‘green synthesis’ biosynthesis process to obtain biocompatible material that can be used in living organisms, such as Viridibacillus arenosi K64. Nanocrystal formation was initiated by adding CdCl2 (1 mM) to the cell cultures. Our in vitro results established that increased concentrations of CdS (0.1 μg/mL) lead to decreased cell viability as assessed using 3-[4,5-dimethylthiazole-2-yl]-2,5-diphenyltetrazolium bromide (MTT), total antioxidant capacity (TAC), and total oxidant status (TOS). The in vivo studies showed that exposure to CdS (1 mg/kg) glial fibrillary acidic protein (GFAP) and 8-hydroxy-2' -deoxyguanosine (8-OHdG) were increased. Collectively, we describe a model system that addresses the process from the synthesis to the neurotoxicity assessment for CdS both in vitro and in vivo. These data will be beneficial in establishing a more comprehensive pathway for the understanding of quantum dot-induced neurotoxicity

The relationship between galectin‐3 levels and fragmented QRS (fQRS) in patients with heart failure with reduced left ventricular ejection fraction

Background: Fragmented QRS (fQRS) complex is an electrocardiographic pattern which reflects myocardial scarring. We aimed to investigate the relationship between the presence of fragmented QRS (fQRS) on electrocardiogram (ECG) and plasma galectin-3 levels in patients with heart failure (HF) and severely decreased left ventricular ejection fraction (LVEF <= 35%)

Autogenous abdominal fat transplantation into temporomandibular joint following removal of osteochondroma

Background: An osteochondroma (OC) of the condylar process is a rare condition which primarily affects the mandibular condyle. There are several surgical treatment protocols of OC. As effective hemostatic agents and space fillers, autogenous free-fat grafts prevent scar formation and helps to hinder the accumulation of blood and serum, which otherwise, may be replaced by a dense collagen (scar), osteoid or bone. We report the autogenous abdominal fat transplantation, following the removal of a condylar OC. Methods: A 42-year-old man presented with the one-year history of progressive facial asymmetry and deviation of the chin, cross-bite to the contralateral side, and difficulty in mastication. Radiographic and clinical findings confirmed the diagnosis of an OC. Computed tomography (CT) showed lateral and inferior displacement of the right mandibular condyle due to the presence of a bone lesion from the medial aspect of the condylar head. Results: The OC was removed; the remaining portion of the condyle was re-shaped and smoothened. Abdominal fat harvesting was done 2–3 cm below the umbilicus and 3–5 cm length on the transverse midline. The defective area was filled with a harvested autogenous abdominal fat. Conclusion: Our results suggest that autogenous abdominal fat graft placement after the removal of OC with condyloplasty is yielded satisfactory treatment outcomes. Keywords: Autogenous abdominal fat, Osteochondroma, TM