Introduction. 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&gt;0.05) among children with BDs and the control group. The age of 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&gt;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&lt;0.05) compared to mothers in the control group. Pre-pregnancy 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&lt;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. 

The influence of risk factors on the development of birth defects among newborns in lviv region (ukraine) in 2002–2022 (part 2)

Multiple drugs

Вступ. Нейророзвиткові порушення – це стани, що виникають через порушення розвитку нервової системи і впливають на функціювання мозку, особливо у дітей із хромосомними аномаліями. Мета. Виявити порушення нейророзвитку у дітей із хромосомними аномаліями й порівняти їхні вияви із показниками дітей контрольної групи. Матеріяли й методи. Дослідження проводили в умовах медико-генетичного центру ДУ «Інститут спадкової патології НАМН України» м. Львова, куди на консультацію впродовж 2022–2024 рр. звернулися батьки 19 дітей із хромосомною аномалією (основна група). Усім дітям діягноз хромосомної аномалії підтверджено цитогенетичним методом. Вік обстежуваних дітей коливався від 2 (синдром Дж. Л. Давна) до 10 років (синдром Г. Тернера). До контрольної групи увійшли 15 дітей відповідних віку і статі без порушення нейророзвитку. Результати. Достовірно частіше (p &lt; 0,0001) у дітей із хромосомною аномалією (11,66 ± 4,402) фіксували порушення великої моторики порівняно з дітьми контрольної групи (4,93 ± 1,73). У пацієнтів основної групи (1,25 ± 4,5) достовірно частіше (p &lt; 0,0001) спостерігалися труднощі мовлення, зокрема, ехолалія, неправильне використання слів у реченні, часто неосмислене повторення тексту, зайві запитання, що не стосуються теми розмови, порівняно з дітьми контрольної групи (0,56 ± 0,62). У дітей із нейророзвитковими порушеннями (5,27 ± 1,1) достовірно частіше (p &lt; 0,001) виявляли гірші пізнавальні здібности порівняно з дітьми контрольної групи (1,25 ± 0,447). Висновки. Розлади нейропсихологічного розвитку у дітей із хромосомними аномаліями є вагомою проблемою, що негативно впливає на якість життя хворої людини, її родини й усього суспільства. Рання діягностика та допомога фахівців різних спеціяльностей уможливлять поліпшити таким дітям якість повсякденного життя. 

Особливости нейророзвиткових порушень у дітей із генетичними хромосомними аномаліями

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, chromosomal 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.

Assessment of risk factors for development of birth defects among newborns in lviv region in 2002-2020 (part 1)

The work describes a case of rare neonatal systemic juvenile xanthogranuloma with an initial damage of the scalp, limbs, back and abdomen, multiple damages of the parenchyma of both lungs, spleen and liver with the development of a severe form of congenital cholestatic hepatitis. The diagnosis was established on the basis of histopathological and immunohistochemical examination of the skin nodules. The child on the background of therapy under the Langerhans cell histiocytosis III program achieved a partial response, which was manifested by a reduction of granulomatous formations on the skin, elimination of liver failure, but retained hepatosplenomegaly, specific lesions of the lung parenchyma, liver, and left kidney. Against the background of cytostatic therapy, the patient developed secondary pancytopenia, perianal ulcerative-necrotic dermatitis with lesions on buttocks, stomatitis, protein-energy deficiency, acute liver failure. coagulopathy, disseminated intravascular coagulation syndrome, acute renal failure, respiratory failure of III degree, cardiovascular insufficiency of III degree, pulmonary edema, cerebral edema, cerebral coma of II-III degree, enterocolitis, intestinal paresis. Despite multicomponent intensive care, the child's condition progressively deteriorated, and the patient died. The aspects of differential diagnosis of neonatal systemic juvenile xanthogranuloma are discussed.

Features of diagnosis and adverse course of neonatal juvenile xanthogranuloma: case report.

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. Materials and methods: 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. Results: 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). Conclusions: in cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling.

Spectrum of Mutations and Clinical Manifestations of Rett Syndrome in Girls from Western Ukraine

Prostate cancer (PCa) is one of the most common malignancies among men worldwide. Its etiology is multifactorial, but genetic variations play a critical role in disease development and progression, particularly mutations in BRCA1/2, HOXB13, ATM, CHEK2, and TP53. In Ukraine, PCa ranks as the second leading cause of cancer-related death and the most frequently diagnosed malignancy in males. 
A systematic search on PubMed, MEDLINE, Embase, Web of Science, Google Scholar, and CENTRAL (up to April 19, 2025) was conducted without language or date restrictions to identify studies on prostate cancer in adults (≥18 years) carrying HOXB13 and TP53 mutations, excluding other cancer types. 
A 68-year-old Ukrainian male presented in January 2020 with urinary symptoms and back pain. Digital rectal examination revealed an enlarged prostate with nodules. Biopsy confirmed acinar adenocarcinoma, Gleason score 8 (4+4). CT showed stage T4N1M1 disease with bone and retroperitoneal lymph node metastases. Family history revealed paternal lymphoma at the age of 71. Blood genetic testing identified HOXB13 c.251G>A (p.Gly84Glu) and TP53 c.581T>G (p.Leu194Arg) mutations. Over four years, the patient underwent orchiectomy, hormonal therapy, radiation and chemotherapy, but died of progressive PCa at the age of 72, 57 months after diagnosis. 
The coexistence of HOXB13 and TP53 mutations likely contributed to the aggressive tumor phenotype. HOXB13 variants are linked to hereditary and early-onset PCa, while TP53 mutations promote progression and therapy resistance. This case highlights the clinical value of genetic testing in aggressive prostate cancer and underscores the need for research into targeted therapies for genetically predisposed patients.

PROSTATE CANCER ASSOCIATED WITH TWO MUTATIONS: HOXB13 c.251G>A and TP53 c.581T>G (A CASE-BASED REVIEW)

Influence of marital status on longevity in ukraine

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