Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. Materials and Methods: The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages. Results: The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs-in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive. Conclusions: Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.

Despite the achievements that have increased viability after the transplantation of allogeneic hematopoietic stem cells (aHSCT), chronic graft-versus-host disease (cGVHD) remains the main cause of late complications and post-transplant deaths. At the moment, therapy alternatives demonstrate limited effectiveness in steroid-refractory illness; in addition, we have no reliable data on the mechanism of this condition. The lack of drugs of choice for the treatment of GVHD underscores the significance of the design of new therapies. Improved understanding of the mechanism of chronic GVHD has secured new therapy goals, and organized diagnostic recommendations and the development of medical tests have ensured a general language and routes for studies in this field. These factors, combined with the rapid development of pharmacology, have helped speed up the search of medicines and medical studies regarding chronic GVHD. At present, we can hope for success in curing this formidable complication. This review summarizes the latest clinical developments in new treatments for chronic GVHD.

Since ancient times, scientists and philosophers were interested in the sense of taste, the mechanisms of its development, anatomical structures responsible for taste, and its importance. Currently, it is clear that food preferences are the main determinant of the development of nutrition and food behavior. Food preferences begin to develop in the early childhood and retain throughout the life. Therefore, inculcating correct nutritional behavior with respect to healthy food is a promising approach to improve the quality of diet being one of the key factors affecting human health. This article addresses current data on morphology, genetics, embryology, and ontogeny of gustatory system as well as major factors affecting the development of food preferences in a child. Most of these factors are modified ones, therefore, the aim of this review is to draw the attention of pediatricians since this is pediatrician who makes evidence-based recommendations on child nutrition and provides adequate feeding strategy.Keywords: genetics, food preferences, taste, taste receptors, children, smell, ontogeny, tongue, baby food, healthy lifestyle.For citation: Zakharova I.N., Dmitrieva Yu.A., Machneva E.B., Tsutsaeva A.N. The development of food preferences: anatomical and genetic determinants, important factors of taste development in children. Russian Journal of Woman and Child Health. 2020;3(2):119–125. DOI: 10.32364/2618-8430-2020-3-2-119-125.

Clinical urine test with the correct interpretation can help the clinician in the diagnosis of the urinary system diseases, as well as other organs and systems. Most laboratories in medical institutions are currently switching to an automated urinary sediment test, but microscopy appears relevant. Unfortunately, clinicians often interpret only three or four (most often proteinuria, leukocyturia and erythrocyturia) of all the numerous indicators of urine test, unfairly ignoring the others. The urinary cylinders are one of these important elements of the urinary sediment. The article presents the characteristics of the main types of urinary cylinders, their origin, composition, morphology and clinical significance.

No abstract

No abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for different spectrum of diseases. This type of treatment is constantly improving, but HSCT remains a risky procedure with various possible complications, the main is – chronic “graft versus host” disease (cGVHD). сGVHD is immune disregulation, and characterized by a variety of clinical manifestations that reflect the multiple underlying pathophysiology mechanisms. The study of cGVHD has now made great progress, but there’s still a lot of questions. General characteristics, risk-factors of development, clinical manifestations, pathogenesis of cGVHD will be discussed in this article. Clinical case presented in this article explains usage of basic and novel agents for cGVHD treatment, prevention criterions for treatment of cGVHD in children.

Skin damage after hematopoietic stem cell transplantation (HSCT) is common and important diagnostic and therapeutic problem. The most significant causes of skin lesions in HSCT are drug toxicity, infections, and manifestations of skin acute and chronic “graft versus host” disease. Each of the complications can manifest in various forms, as well as to combine with others, exerting a significant negative effect on the patient’s condition, in severe cases posing a threat to the patient’s life. The article summarizes data on the etiology, features of pathogenesis, clinical forms, the main methods of diagnosis and therapy of the most common skin complications of HSCT.