Diabetic Kidney Disease Position Paper of the Macedonian Society of Nephrology, Dialysis, Transplantation and Artificial Organs (MSNDTAO), Macedonian Society of Cardiology (MSC), and Scientific Association of Endocrinologists and Diabetologists of Macedonia (SAEDM).

Diabetic kidney disease (DKD) is a significant and growing global health concern, affecting a substantial proportion of individuals with diabetes mellitus. This position paper of Scientific societies of endocrinologists, nephrologists and cardiologists has been consensually brought at a couple of mutual meetings, aiming to synthesize current knowledge on screening, diagnosis and staging of DKD, emphasizing the need for an early detection and intervention in order to prevent progression to end-stage renal disease (ESRD). The role of glycemic control, blood pressure management, lipid management and the use of reno and cardioprotective agents, including angiotensin-converting enzyme inhibitors, sodium-glucose co-transporter 2 inhibitors and non-steroidal mineralocorticisteroid receptor antagonist has been entirely considered.

Synonymous codon substitutions modulate transcription and translation of a divergent upstream gene by modulating antisense RNA production.

Synonymous codons were originally viewed as interchangeable, with no phenotypic consequences. However, substantial evidence has now demonstrated that synonymous substitutions can perturb a variety of gene expression and protein homeostasis mechanisms, including translational efficiency, translational fidelity, and cotranslational folding of the encoded protein. To date, most studies of synonymous codon-derived perturbations have focused on effects within a single gene.

Choosing a COVID-19 vaccination site might be driven by anxiety and body vigilance.

Background: The occurrence of COVID-19 led to the rapid development of several vaccines which were distributed around the world. Even though there had been a vast amount of information about both virus and vaccination, this process was potentially related to increased anxiety and thus affected the vaccination process.

Objective: The present study examined anxiety levels and body vigilance in subjects reporting for COVID-19 vaccination at different vaccination sites.

Self-care activities in pediatric patients with type 1 diabetes mellitus.

Introduction: Effective diabetes self-management and collaborative responsibility sharing with parents are imperative for pediatric patients with type 1 diabetes mellitus, particularly as they gradually assume more self-care responsibilities. The primary goal of this study was to assess differences in adherence to self-care activities regarding sociodemographics and clinical characteristics in pediatric patients with type 1 diabetes. The secondary goal of this study was to understand the level of parental involvement in diabetes management and to assess the pediatric patients' behaviors (independent or dependent on disease self-management) that relate to sociodemographic and clinical characteristics.

Determinants of health-related quality of life in children and adolescents living with type 1 diabetes mellitus during the COVID-19 pandemic.

Aim: To identify the determinants of self-reported health-related quality of life in children and adolescents with type 1 diabetes mellitus during the coronavirus pandemic.

Design: A cross-sectional study.

Methods: The study sample included 182 children and adolescents who had been diagnosed with type 1 diabetes mellitus at least 3 months prior.

Efficacy of Pregabalin and Duloxetine in Patients with Painful Diabetic Peripheral Neuropathy (PDPN): A Multi-Centre Phase IV Clinical Trial-BLOSSOM.

Introduction: Our trial (ClinicalTrials.gov Identifier: NCT04246619) evaluates the efficacy of two generic medications, pregabalin and duloxetine, for treating pain in PDPN patients.

Methods: The patients were randomised either into the pregabalin (99) or the duloxetine (102) arm.

Towards future directions in data-integrative supervised prediction of human aging-related genes.

Motivation: Identification of human genes involved in the aging process is critical due to the incidence of many diseases with age. A state-of-the-art approach for this purpose infers a weighted dynamic aging-specific subnetwork by mapping gene expression (GE) levels at different ages onto the protein-protein interaction network (PPIN). Then, it analyzes this subnetwork in a supervised manner by training a predictive model to learn how network topologies of known aging- versus non-aging-related genes change across ages.

Downregulation of mapk/mak/mrk overlapping kinase 1 in peripheral blood mononuclear cells of pediatric patients with type 1 diabetes mellitus.

Background: Type 1 diabetes mellitus (T1DM) is one of the most common endocrine diseases in children. T-cell autoreactivity toward b-cells is controlled by significant changes in metabolism of T cells. Mammalian target of rapamycin (mTOR) is an important intracellular regulator of metabolism and cell growth.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Multi-layer sequential network analysis improves protein 3D structural classification.

Protein structural classification (PSC) is a supervised problem of assigning proteins into pre-defined structural (e.g., CATH or SCOPe) classes based on the proteins' sequence or 3D structural features.

Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.

Introduction: Disorders of sexual development can present isolated or as a part of complex genetic syndromes.

Case Presentation: A newborn with ambiguous genitalia and prenatally diagnosed brain malformations was referred to our hospital. Prenatal ultrasound examination and MRI showed lissencephaly and absence of the corpus callosum.

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.

Objectives: International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed.

Aim: To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0-3 years.

Modeling multi-scale data via a network of networks.

Motivation: Prediction of node and graph labels are prominent network science tasks. Data analyzed in these tasks are sometimes related: entities represented by nodes in a higher-level (higher scale) network can themselves be modeled as networks at a lower level. We argue that systems involving such entities should be integrated with a 'network of networks' (NoNs) representation.

Triptorelin stimulated luteinizing hormone concentrations for diagnosing central precocious puberty: study of diagnostic accuracy.

Purpose: Gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard for diagnosing central precocious puberty (CPP). However, intravenous GnRH is not always readily available. The aim of the present study was to evaluate the diagnostic accuracy of triptorelin-stimulated luteinizing hormone (LH) concentrations in the diagnosis of CPP among girls presenting with premature thelarche compared to the gold standard GnRH test.

CHARMING: Harmonizing synonymous codon usage to replicate a desired codon usage pattern.

There is a growing appreciation that synonymous codon usage, although historically regarded as phenotypically silent, can instead alter a wide range of mechanisms related to functional protein production, a term we use here to describe the net effect of transcription (mRNA synthesis), mRNA half-life, translation (protein synthesis) and the probability of a protein folding correctly to its active, functional structure. In particular, recent discoveries have highlighted the important role that sub-optimal codons can play in modifying co-translational protein folding. These results have drawn increased attention to the patterns of synonymous codon usage within coding sequences, particularly in light of the discovery that these patterns can be conserved across evolution for homologous proteins.

Improved supervised prediction of aging-related genes via weighted dynamic network analysis.

Background: This study focuses on the task of supervised prediction of aging-related genes from -omics data. Unlike gene expression methods for this task that capture aging-specific information but ignore interactions between genes (i.e.

Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.

In this article international trends in surgical practice in girls with congenital adrenal hyperplasia (CAH) are evaluated. All cases that had been classified in the I-CAH/I-DSD registry as 46,XX CAH and who were born prior to 2017 were identified. Centers were approached to obtain information on surgical decision making.

Metabolic Syndrome and Myocardial Infarction in Women.

Metabolic syndrome (MetS) represents a cluster of metabolic disorders that arise from insulin resistance (IR) and adipose tissue dysfunction. As a consequence, there is an increased risk for type 2 diabetes mellitus and atherosclerotic cardiovascular disease (CVD). MetS is associated with a 2-fold increase in cardiovascular outcomes.

Current Status of Newborn Screening in Southeastern Europe.

Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bulgaria, Bosnia and Herzegovina (BIH), Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, and Slovenia) to assess the main characteristics of their NBS programs and their future plans. Their cumulative population at that time was ~52,5 million.