The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.

Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified with DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, and alopecia.

[Treatment of rectal prolapse after proctoplasty in a child with rectal atresia].

Rectal prolapse is a common disease in childhood and observed mainly at the age of 1-4 years old (95% of cases). If conservative treatment is ineffective, surgical correction of rectal prolapse in children without previous anorectal surgery is performed at the age of over a year. There is a single report on examination of patients aged 4-16 years after surgical correction of anorectal malformations with postoperative rectal prolapse.

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.

Background: This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies.

Methods: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns.

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the Gene.

This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehensive molecular genetic analysis of 29 patients with HPA from diverse ethnic backgrounds, two major genetic variants in the gene, P281L and P211T, were identified, constituting 50% of all detected pathogenic alleles in Ossetian patients. Remarkably, these variants exhibited an exceptionally high frequency in the Ossetian population, surpassing global prevalence rates.

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period.

[Prolonged spinal and sacral neurostimulation in children with pelvic organ dysfunction: preliminary analysis].

Objective: To evaluate the clinical efficacy of long-term spinal and sacral programmable neurostimulation for pelvic organ dysfunction in patients with myelodysplasia and chronic dysfunction of the bladder and rectum.

Material And Methods: A retrospective study included 32 children aged 1-17 years (mean 10.7) with myelodysplasia, pelvic organ dysfunction and ineffective therapy including botulinum therapy and exclusion of tethered spinal cord syndrome.

High carrier frequency of a nonsense p.Trp230* variant in gene in Ossetians.

Background: Congenital adrenal hyperplasia (CAH) caused by 3β-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. Previously we have demonstrated that a single nucleotide variant (SNV) p.Trp230* in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.

Efficacy and safety following two or more years of vagus nerve stimulation (VNS Therapy) in pediatric patients with drug-resistant epilepsy enrolled in a Russian VNS Registry.

Introduction: Following approval in 2009 of vagus nerve stimulation (VNS Therapy) for drug-resistant epilepsy (DRE) in the Russian Federation, this is the first multicenter study across Russia to evaluate the safety and efficacy of adjunctive VNS Therapy.

Methods: The retrospective, observational registry included 58 pediatric patients with DRE (5-17 years old at implantation) who had ≥2 years of VNS. To ensure a robust evaluation process, changes in seizure frequency were evaluated for all seizure types as well as "most disabling" seizures (defined as seizures accompanied by falls, physical trauma, and/or incontinence in the absence of preventative measures).

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report.

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris.

[Hemostasis for central rupture of liver in a child].

Blunt abdominal trauma in children accompanied by liver damage occurs in 18-20% of cases. Endovascular embolization is the most common approach for bleeding following central ruptures of liver. Foreign authors published few case reports devoted to successful embolization for central liver ruptures in children.

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.

More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss.

[Ladd's syndrome in older children].

Most often, Ladd's syndrome clinically manifests within the first month after birth. There are few reports devoted to diagnosis of this syndrome in patients aged 6-10 years. We present 2 children with Ladd's syndrome.

Role of miRNAs in vascular development.

The development of the vertebrate vascular system is an extremely important and complex process. The circulatory system is the first organ system to develop during embryogenesis. The development of the vasculature into highly branched canals must occur clearly in many places in order to supply oxygen and nutrients to the rapidly developing embryo.

Diagnostic Capabilities of Islet Autoantibodies in Children with New-Onset Type 1 Diabetes Mellitus and Healthy Siblings.

Unlabelled: is to determine the diagnostic utility of several islet autoantibodies and their combinations in order to identify individuals susceptible to type 1 diabetes mellitus (T1DM) among healthy siblings in the pediatric population within the scope of the development of a screening program.

Materials And Methods: A total of 424 children were evaluated, 260 children with new-onset T1DM and 164 healthy children with brothers and/or sisters with T1DM.Blood tests for a complex of autoantibodies to insulin (IAA), tyrosine phosphatase (IA-2A), zinc transporter 8 (ZnT8A), pancreatic β-cells (ICA), and glutamate decarboxylase (GADA) were conducted in all the subjects with the enzyme immunoassay method.

[A deep intronic mutation in AR gene causing androgen insensitivity syndrome: difficulties of diagnostics].

Partial androgen resistance syndrome (PAIS) is the most difficult form of disorders/differences of sex development 46,XY (DSD 46,XY) for choosing of patient management. To date, there are no clear biochemical criteria, especially before puberty, that allow differentiating PAIS from other PAIS-like forms of DSD 46, XY, and genetic verification of the partial form of AIS plays an important role. Meanwhile, according to the literature, mutations in the coding region of AR gene have not been identified in more than 50% of patients with suspected AIS.

[Clinical Findings in Two patients with DSD 46XY caused by new variant of the Gene and review of the literature of the role of DHH signaling pathway in sex development].

Mutations in the gene DHH are an extremely rare cause of disorders of sex development 46,XY (DSD,46XY). The article describes the clinical cases of two unrelated patients with gonadal dysgenesis 46,XY with female phenotype. By using a next generation sequencing method, in both cases the same biallelic variant substitution c.

Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial.

Context: For children with growth hormone deficiency (GHD), treatment burden with daily somatropin injections [human growth hormone (hGH)] is high, which may lead to poor adherence and suboptimal overall treatment outcomes. Lonapegsomatropin (TransCon hGH) is an investigational long-acting, once-weekly prodrug for the treatment of GHD.

Objective: The objective of this study was to evaluate the efficacy and safety of once-weekly lonapegsomatropin vs daily somatropin.

[Renal abscess in children].

Introduction: Renal abscesses are relatively rare in children, but they can lead to prolonged hospital stay and life-threatening complications. Scrutiny of the literature over the past two decades indicates the absence of a unified tactic for the treatment of purulent-destructive forms of pyelonephritis in children, while more and more articles are appearing in terms of a low -key approach to the treatment of renal abscess in children.

Materials And Methods: From 2005 to 2019, we treated 59 children with the renal abscess.

Cytokine profile in patients with chronic non-bacterial osteomyelitis, juvenile idiopathic arthritis, and insulin-dependent diabetes mellitus.

Objectives: Our study aimed to evaluate the cytokine levels in pediatric chronic non-bacterial osteomyelitis (CNO) patients and compare these with other immune-mediated diseases and healthy controls.

Methods: In this prospective study, we included 42 children with CNO, 28 patients with non-systemic juvenile idiopathic arthritis (JIA), 17 children with insulin-dependent diabetes mellitus (IDDM), and 30 healthy age-matched controls. In each of the CNO patients and comparison groups, the levels of 14-3-3-η protein, S100A8/A9 protein, interleukin-4 (IL-4), interleukin-17 (IL-17), interleukin-18 (IL-18), interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α) were measured by ELISA assay.