Association of interleukin 4 and MTHFR gene polymorphisms with distal symmetrical polyneuropathy in young diabetics.

Background:  It is believed that genetic factors play a role in the development and severity of neural injury among people with distal symmetrical polyneuropathy (DSP), because some genes are involved in specific biological pathways, acting in different ways in the pathogenic process.

Objective:  To identify potential associations involving the ( C677T) and ( intron 3 variable number of tandem repeats [I3VNTR]) gene polymorphisms and DSP in the studied sample.

Methods:  In total, 70 children and adolescents with type-1 diabetes underwent a nerve conduction studie (NCS) of the sural nerve.

Effects of intradialytic bicycle ergometer exercise on transcription factors NF-ĸB and Nrf2 in patients with chronic kidney disease: A randomized crossover clinical trial.

Purpose: To evaluate the effects of an intradialytic aerobic exercise training program on the expression of transcription factors nuclear factor κappa B (NF-κB) and nuclear factor erythroid 2-related factor 2 (Nrf2), related to inflammatory and antioxidant pathways, respectively, in patients with chronic kidney disease (CKD) on hemodialysis.

Methods: This was a longitudinal, randomized clinical trial with a washout period and crossover performed with 33 patients randomized into two groups: Exercise (individualized intradialytic aerobic exercise on an adapted stationary exercise bike) three times per week for three months and control (without exercise). After the washout period (1 month), the exercise group became the control, and the other group performed the exercises for another three months.

Effects of Propolis Supplementation on Gut Microbiota and Uremic Toxin Profiles of Patients Undergoing Hemodialysis.

Propolis possesses many bioactive compounds that could modulate the gut microbiota and reduce the production of uremic toxins in patients with chronic kidney disease (CKD) undergoing hemodialysis (HD). This clinical trial aimed to evaluate the effects of propolis on the gut microbiota profile and uremic toxin plasma levels in HD patients. These are secondary analyses from a previous double-blind, randomized clinical study, with 42 patients divided into two groups: the placebo and propolis group received 400 mg of green propolis extract/day for eight weeks.

Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease.

Introduction: The spectrum of clinical presentation of Fabry disease (FD) in women is broad and challenging. The aim is to evaluate the effectiveness of an alternative screening method for FD in women.

Methods: A collaborative multicenter cross-sectional study to evaluate the sensitivity and specificity of the combination of two tests (α-GAL enzyme activity assay and lyso-GL3 assay) for the diagnosis of FD in women.

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome.

Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2500 female live births. Sister chromatid exchange (SCE) is used as a sensitive indicator of spontaneous chromosome instability. Cells from mosaic patients constitute useful material for SCE evaluations as they grow under the influence of the same genetic background and endogenous and exogenous factors.

Amazonian Fruits for Treatment of Non-Communicable Diseases.

Purpose Of Review: The Amazon region has a high biodiversity of flora, with an elevated variety of fruits, such as Camu-Camu (Myrciaria dúbia), Açaí (Euterpe oleracea Mart.), Tucumã (Astrocaryum aculeatum and Astrocaryum vulgare), Fruta-do-conde (Annona squamosa L.), Cupuaçu (Theobroma grandiflorum), Graviola (Annona muricata L.

Sulforaphane upregulates the mRNA expression of NRF2 and NQO1 in non-dialysis patients with chronic kidney disease.

Sulforaphane (SFN), found in cruciferous vegetables, is a known activator of NRF2 (master regulator of cellular antioxidant responses). Patients with chronic kidney disease (CKD) present an imbalance in the redox state, presenting reduced expression of NRF2 and increased expression of NF-κB. Therefore, this study aimed to evaluate the effects of SFN on the mRNA expression of NRF2, NF-κB and markers of oxidative stress in patients with CKD.

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Background: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ. Patients with unexplained left ventricular hypertrophy require an early, confirmed genetic diagnosis through diagnostic or predictive genetic testing. We tested the feasibility and practicality of the application of a 17-gene next-generation sequencing (NGS) panel to detect the most common genetic causes of HCM and HCM phenocopies, including treatable phenocopies, and report detection rates.

Production of Toxins by the Gut Microbiota: The Role of Dietary Protein.

Purpose Of Review: This narrative review will discuss how the intake of specific protein sources (animal and vegetable) providing specific amino acids can modulate the gut microbiota composition and generate toxins. A better understanding of these interactions could lead to more appropriate dietary recommendations to improve gut health and mitigate the risk of complications promoted by the toxic metabolites formed by the gut microbiota.

Recent Findings: Gut microbiota is vital in maintaining human health by influencing immune function and key metabolic pathways.

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression.

Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.

Background: Disease-related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH) vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations. Conventional therapy (oral phosphate and calcitriol) improves some symptoms, but evidence show that it is not completely effective, and it can lead to nephrocalcinosis (NC) and hyperparathyroidism (HPT).

Behavioral Assessment of Central Auditory Processing in Turner Syndrome.

 Turner syndrome (TS) affects ∼ 1 in 2,500 live births. The presence of hearing alterations is one of the comorbidities found in this syndrome.  The present study aimed to evaluate the central auditory abilities in TS and to associate the alterations found with the cytogenetic pattern of the syndrome.

Protect the Kidneys and Save the Heart Using the Concept of Food as Medicine.

Chronic kidney disease is a significant risk factor for cardiovascular disease. In addition to traditional risk factors, such as hypertension, dyslipidemia, diabetes and smoking, patients with chronic kidney disease have a uremic phenotype marked by premature aging, mitochondrial dysfunction, persistent low-grade inflammation, gut dysbiosis and oxidative stress. These complications contribute to abnormal vascular and myocardial remodeling processes, resulting in accelerated vascular calcification, cellular and organ senescence and a high risk of cardiovascular disease.

Serum Magnesium Levels in Patients with Chronic Kidney Disease: Is There a Relationship with Inflammation Status?

Background: Magnesium (Mg) is a fundamental mineral that maintains cellular function, and low levels may be linked to inflammation in patients with chronic kidney disease (CKD). This cross-sectional study evaluated the correlation between serum Mg levels and the inflammatory status in patients undergoing dialysis.

Methods: Two hundred patients with CKD [150 undergoing hemodialysis (HD), 50 (18) years; BMI 24 (4.

Sulforaphane Supplementation Did Not Modulate NRF2 and NF-kB mRNA Expressions in Hemodialysis Patients.

Background: Patients with chronic kidney disease (CKD) have reduced expression of erythroid nuclear factor-related factor 2 (NRF2) and increased nuclear factor κB (NF-κB). "Food as medicine" has been proposed as an adjuvant therapeutic alternative in modulating these factors. No studies have investigated the effects of sulforaphane (SFN) in cruciferous vegetables on the expression of these genes in patients with CKD.

Royal jelly: a predictive, preventive and personalised strategy for novel treatment options in non-communicable diseases.

Royal jelly (RJ) is a bee product produced by young adult worker bees, composed of water, proteins, carbohydrates and lipids, rich in bioactive components with therapeutic properties, such as free fatty acids, mainly 10-hydroxy-trans-2-decenoic acid (10-H2DA) and 10-hydroxydecanoic acid (10-HDA), and major royal jelly proteins (MRJPs), as well as flavonoids, most flavones and flavonols, hormones, vitamins and minerals. In vitro, non-clinical and clinical studies have confirmed its vital role as an antioxidant and anti-inflammatory. This narrative review discusses the possible effects of royal jelly on preventing common complications of non-communicable diseases (NCDs), such as inflammation, oxidative stress and intestinal dysbiosis, from the viewpoint of predictive, preventive and personalised medicine (PPPM/3PM).

Investigation of possible relationship between atopic dermatitis and salivary biomarkers, stress, and sleep disorders.

Atopic dermatitis (AD) is a chronic, relapsing, multifactorial inflammatory disease with genetic, environmental, and immunological characteristics. The quality of life and sleep of patients and their families are affected by AD, which triggers stress, described as one of the factors that worsens AD. Salivary biomarkers such as cortisol, alpha-amylase, chromogranin A, and melatonin have been associated with stress and sleep disturbances.

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.

Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment.

Evaluation of Bach1 mRNA expression in patients with chronic kidney disease: A preliminary study.

Introduction: BTB and CNC homology 1 (Bach1) is a protein that antagonizes some actions of nuclear factor erythroid 2-related factor-2 (Nrf2), the master regulator of cytoprotective responses. Bach1 binds to genomic DNA and inhibits the synthesis of antioxidant enzymes, thereby increasing inflammation. Bach1 may be a therapeutic target for mitigating inflammation in chronic kidney disease (CKD) patients.

The effect of Brazilian Green Propolis extract on inflammation in patients with chronic kidney disease on peritoneal dialysis: A randomised double-blind controlled clinical trial.

Background: Chronic kidney disease (CKD) patients on dialysis display a low-grade systemic inflammatory burden. Nutritional interventions designed to activate the cytoprotective nuclear factor erythroid-2-related factor 2 (Nrf2) and inhibit nuclear factor-kB (NF-κB) have been proposed to mitigate this burden. Several bioactive compounds have been investigated to achieve this, including propolis, a resin produced by Apis mellifera bees.

Dark chocolate (70% cocoa) attenuates the inflammatory marker TNF-α in patients on hemodialysis.

Background: Inflammation and oxidative stress lead to a high risk of cardiovascular disease in patients with chronic kidney disease (CKD). Food rich in polyphenols such as dark chocolate may be an effective strategy to mitigate inflammation and delay CKD complications, outwith sensorial pleasure promotion. The aim of this study was to evaluate the effects of dark chocolate on inflammation and oxidative stress markers in patients with CKD on hemodialysis (HD).

Mothers of children with Down syndrome: a clinical and epidemiological study.

Down syndrome is the main genetic cause of intellectual disability. Many studies describe the clinical characteristics of DS patients; however, few have investigated the clinical profile of mothers who have children with DS. Advanced maternal age (≥ 35 years old) is a risk factor for DS.