Introduction. The frequency of children with birth defects (BD) according to the WHO reaches 4-6% of the total number of newborns.
Objectives. The purpose of this work was to determine the probable risk factors for “model” BDs in newborns.
Methods. Analysis of clinical-epidemiological and medical-statistic data from the primary documentation on newborns in 2002-2020 with BDs by the “case-control” method filling out registration cards in maternity hospitals of Lviv region was conducted.
Results. There were filled 1204 healthy newborns’ cards and 1211 cards of newborns with BDs. In the structure of “model” BD, the deformations of the musculoskeletal system composed 272 (22.5%) cases, clefts of the lip and palate accounted for 193 (15.9%) cases, abnormalities comprised 174 (14.4%) cases. We observed statistically significant risk (р<0.05) of BDs for newborns with increased numbers of pregnancies in mothers. There was a statistically significant difference [OR=3.97; 95%CI: 1.97; 7.99] in the medical history relative to stillbirths (3.2%) in mothers with BD newborns as compared to women in the control group (0.8%). The prevalence of pathological structure of the placenta in women of the study group (32.8%) was higher [OR=3.71; 95%CI:3.01; 4.56] than in those of the control group (16.8%).
Mothers of both groups showed no statistically significant difference in anemia, preeclampsia, the interval between pregnancies, and the number of abortions and miscarriages (p> 0.05).
Conclusions. Further research in this area should be directed to determine the contributions of genetic factors in BD occurrence, considering the genealogical history of each family.

Birth defects (BDs) are an essential public health issue in children; the identification of probable risk factors should be a priority for the healthcare system.
Objectives: This study aimed to determine the probable risk factors for “model” BDs in newborns.
Methods. We collected and analyzed clinical-epidemiological and medical-statistic data from the primary records of children with BDs born in 2002–2022 using the “case-control” method, filling out the registration cards in maternity hospitals of Lviv Region (Ukraine).
Results. There were 1,279 healthy newborns’ cards and 1,286 cards of newborns with BDs filled out. No significant difference was found in terms of body weight, height, head circumference, and chest circumference (p>0.05) among children with BDs and the control group. The age o mothers with children affected by BD was 27.3±6.1 years and had no statistically significant difference from the age of mothers of children in the control group - 25.6±7.2 years (p>0.05). Mothers who gave birth to children with BDs used drugs in the preconception period [OR=2.46; 95% CI: 1.75; 3.44] and the first trimester of pregnancy [OR=4.76; 95% CI: 3.18; 7.14] significantly more often (p<0.05) compared to mothers in the control group. Prepregnancy preparations were adequately conducted by 278 (21.6%) women who gave birth to children with BDs, which was statistically different from 563 (44%) women in the control group (p<0.05) [OR=2.85; 95% CI: 2.39; 3.39].
Conclusions. More efforts are necessary to identify drug safety issues during pregnancy and to improve the current information system for clinical practice.

616.61-053.2:575:576.5

The prevalence of dysmetabolic nephropathies in children is increasing from year to year, representing a significant problem in the overall structure of kidney diseases in pediatric age. Despite numerous studies dedicated to the issue of dysmetabolic nephropathies in children, the role of epigenetic factors in the pathogenesis of dysmetabolic nephropathy with calcium oxalate crystalluria remains insufficiently explored.
Aim — to identify the leading epigenetic factors in the pathogenesis of dysmetabolic nephropathy with calcium oxalate crystalluria in children. Materials and methods. The data from the medical histories and outpatient records of 173 children were studied. Each child was additionally
examined by narrow specialists of different profiles. Three groups were formed from the examined children: Group I — children with a complicated course of dysmetabolic nephropathy and a history of inflammatory processes in the urinary system (52 children), Group II — children with dysmetabolic nephropathy with persistent crystalluria (56 children) and the Control group, which included 65 healthy children.
Results. The most significant prenatal epigenetic factors are the threat of early miscarriage, gestosis of the first and second halves of pregnancy, maternal anemia during pregnancy, parental alcohol and tobacco use, mother's work on computer during pregnancy, presence of maternal
chronic diseases, parental exposure to industrial dust and noise, and heavy physical work of mother leading to fetal hypoxia.
Conclusion. The most significant postnatal epigenetic factors influencing children's susceptibility to a more severe course of dysmetabolic
nephropathy included low birth weight, early artificial feeding, frequent acute respiratory infections, atopic diathesis, and physiological jaundice
in the first year of life, as well as the presence of concomitant diseases such as chronic tonsillitis, dental caries, frequent acute respiratory infections, chronic gastritis, atopy, and chronic cholecystitis later in life. The study was carried out in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of these institutions. The informed consent of the children's parents was obtained for the research. No conflict of interests was declared by the authors. 

Остеопенія та остеопороз — найбільш поширене системне захворювання скелета, яке характеризується зниженням кісткової маси й структурними змінами кісткової тканини (КТ), які виражені настільки, що навіть при незначній травмі можуть виникати переломи. Втрата кісткової маси і переломи кісток приводять до зниження якості життя пацієнтів і негативно впливають на протікання інших захворювань. Проблема остеопорозу при різних захворюваннях у дітей досить широко вивчається на сучасному етапі. Останнім часом проблеми, пов’язані із структурно-функціональними порушеннями кісткової тканини у дітей, набули значної актуальності й усе частіше привертають на себе увагу як науковців, так і лікарів. В останні роки збільшився перелік клінічних станів, які супроводжуються втратою КТ, остеопенією та остеопорозом. Все більшого значення в етіології остеопенії та остепорозу набувають екопатологічні зміни з боку кісткової системи у дітей, що проживають у регіонах з різними шляхами поступлення ксенобіотиків, що відбивається і на стані кісткової системи, зокрема зубів, у дітей.

Rett syndrome is one of the most common causes of mental retardation in girls. The aim of our work was to study a spectrum of genetic heterogeneity and various clinical manifestations of Rett syndrome in girls Western Ukraine. There were used clinical, molecular and genetic methods. We observed seven girls with Rett syndrome aged from 6 months to 15 years who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv for three years (2019–2021) and underwent molecular genetic analyses confirmed by next-generation sequencing. In this study, patients with Rett syndrome had individual clinical heterogeneity and age variability due to different mutations. Mental retardation was not observed among siblings in families with Rett syndrome. We identified seven different pathogenic mutations among seven girls, including two deletions and one duplication of the MECP2 gene. Microcephaly was observed in two girls with MECP2 c.880C>T (p.Arg294*) and MECP2 Gain (Entire coding sequence) at birth. The following developmental disabilities were found in five girls: lack of independent sitting, lack of independent gait (regression of development). Among musculoskeletal disorders, there were diagnosed scoliosis, X-shaped deformation of the lower extremities and muscular hypotonia. A two-year-old girl with Rett syndrome, along with other clinical symptoms, had breathing problems - hyperventilation (rapid shallow breathing). In cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling