Family Anamnesis Research Articles

Cardiac rhythm and conduction disturbances in children with bradyarrhythmias during long-term ECG monitoring

The syncope in children with bradyarrhythmias can be life-threatening and their differentiation is important in the evaluation of any child with syncope. In children risk factors for the poor prognosis and progression of bradyarrhythmias leading to the development of arrhythmogenic syncope have not been definitively determined. The aim was to determine the diagnostic significance of the implantable cardiac monitors (ICM) method and identify electrocardiographic and electrophysiological predictors of the development of syncope in children with bradyarrhythmias. Material and methods. The authors analyze the group of 191 children with bradyarrhythmias, recurrent syncope and ICM. The examination of patients included electrocardiography (ECG), echocardiography (ECHO-CG), Holter monitoring (HM) of rhythm, electrophysiological study (EHS), exercise test, and analysis of family anamnesis data. Results. 96 out of 191 children had positive result of long-term cardiac monitoring. 16 out of 96 children had structural heart deseases – congenital heart defects, cardiomyopathies. Episodes of arrhythmias were documented in 30% of children during syncope and asymptomatic arrhythmias were observed in 43% of children. Arrhythmogenic syncope accounts for 7,5% of all registered syncope and 5% of positive monitoring results. Sinus rhythm during syncope was registered in 48% of children, and 2% of patients had a combination of arrhythmogenic and non-arrhythmogenic syncope. The heart rhythm characteristics of standard ECG and HM in patients with symptomatic arrhythmias did not differ significantly from either patients with asymptomatic episodes of arrhythmias or patients with sinus rhythm during syncope. Conclusion. The diagnostic significance of the ICM for identifying the cause of recurrent syncope in children with bradyarrhythmias is 50%. Arrhythmogenic genesis of syncope has been confirmed in 7.5% of children with bradyarrhythmias. The heart rate characteristics and electrophysiological parameters of the previous examination are not predictors of the development of syncope in children with bradyarrhythmias. Long-term cardiac monitoring of ICM can identify children with life-threatening arrhythmogenic syncope from all patients with bradyarrhythmia and make the prevention of sudden cardiac death (SCD).

Kidney involvement in rare hereditary diseases

Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.g. neurosensory deafness in Alport syndrome or photofobia in nephropathic cystinosis. Diagnosis of monogenic inherited diseases should be verified by genetic testing. Specific drugs are available for treatment of certain hereditary diseases involving kidney, e.g. Fabry disease, cystinosis, primary hyperoxaluria I type and atypical hemolytic uremic syndrome.

Role of Extended Family for Intrafamilial Transmission of Helicobacter pylori Infection in Bulgarian Children

Helicobacter pylori infection is one of the most common chronic bacterial infections worldwide. The infection is usually acquired during the first years of childhood and transmission from infected mother is considered an important epidemiological factor. The aim of this study was to assess the H. pylori positivity in Bulgarian symptomatic children in association with the presence or absence of family anamnesis of gastroduodenal diseases among their parents, siblings and grandparents. H. pylori infection was evaluated in 362 children in two groups: 181 children with family anamnesis of gastroduodenal diseases and 181 children without family anamnesis. All patients underwent esophagogastroduodenoscopy and gastric biopsy samples for microbiological examination for H. pylori were taken. H. pylori infection among children with family history of gastroduodenal diseases was significantly more frequent (69.1%) compared with the group of patients without a family anamnesis (21.0%, p <0.0001). In addition to the significance of the infected parents (69.4%) and siblings (52.0%), infected grandparents were also associated with high prevalence of the infection (77.8%, 21/27 cases) in the children. In conclusion, H. pylori infection among children with family history of gastroduodenal disease was 3.3-fold higher than that in the group without family anamnesis. The significance of the grandparents in the extended family households should be considered.

The child and adolescent hypertension as a world-wide problem: prevalence, risk factors including neonatal ones

The children hypertension is a serious threat to population health because uncontrolled children hypertension can result in exponential increasing of cardiovascular and cerebrovascular diseases, progression of kidney failure and premature death in adulthood. The main risk factors for primary children and adolescent hypertension are considered as cardiovascular biomarkers (fibro-blast growth), obesity, especially central obesity, overweight, low birth weight, high sodium intake, sedentary lifestyle, lack of physical activity, socioeconomic and ethnic factors, as well as family anamnesis. The special place in studying children hypertension is occupied by problem of neonatal hypertension. The most common causes of neonatal hypertension are umbilical catheter-related thrombosis, renal parenchymal disease and chronic lung disease (bronchopulmonary dysplasia), as well as low birth weight, post-menstrual age and some other maternal factors, as well as medications (inotropic medicines, caffeine) and regulation of fluid intake.

Редкие (орфанные) наследственные заболевания с поражением почек: подходы к диагностике и лечению

Many rare inherited disorders can be associated with the various types of kidney involvement, including glomerular disease, tubulopathies, congenital anomalies of the kidneys and urinary tract, urolithiasis, multiple cysts, malignant and benign tumors. Hereditary nephropathy should be always considered in children, adolescents and young patients with the kdineys or urinary tract disorders and/or patients with positive family anamnesis although certain genetic diseases can manifest in adult or even in the elderly whereas proband family members frequently show no signs of the disease. Extrarenal manifestations can be a valuable clue for diagnosis of various genetic disorders, e.g. neurosensory deafness in Alport syndrome, cornea verticillata and angiokeratoma in Fabry disease, photofobia in nephropathic cystinosis. Genetic tests are essential for verification of monogenic inherited diseases. In the nearest future, whole-exome or genome sequencing at constantly decreasing cost may replace targeted sequencing of the known causal gene(s) or gene panels, particularly when various inherited disorders present with the similar clinical phenotypes.

Medical and social characteristics of risk factors of family history of adolescents

High frequency of risk factors in the socio-economic and socio-psychological status of modern families determines the need for careful collection of family anamnesis and the reflection of relevant information in primary medical records. What is of particular importance, is the assessment of the dynamics of the family anamnesis during the "crucial" periods of the child's life related to adaptation to the new micro-social conditions of educational institutions. A medical-psychological and sociological questionnaire was carried out on 795 children aged from 12 to 14 and their parents, and a study was carried out on the nature of the disturbances in types of family upbringing. The social history was analysed on the basis of primary medical records. Some form of adverse family history was present in 87% of families; more than a third of the children experienced fears related to family relationships, with half of the childish fears were related to disagreements with their parents, insecurity about intimacy and support from close friends. When family upbringing was analysed, disturbances were absent in only a third of adolescents. The direct influence of parental attitudes on the formation of a dysthymic and anxious type of accentuation of the child's character is shown. Integration of information which reflects peculiarities of family anamnesis and serves to create personalised programmes of medical and social support for children, including family counselling practices and educational activities for parents on the spectrum of problems identified, is essential. Psycho-social support individualisation is an effective way of optimal self-actualisation of the child, its social relatedness, positive forms of behaviour, which can serve as a basis for socio-psychological adaptation, a guarantee of harmonisation of personality and the basis of mental health.

Metabolic syndrome in children: risk factors, diagnostic features and treatment

Introduction: The prevalence of metabolic syndrome in children is increasing, in parallel with the increasing trends of obesity rates and his fact requires the early diagnosis of risk factors through the use of non-invasive biomarkers. Aim of the study: Estimation of risk factors contributing to the onset of metabolic syndrome in children, as well as some particularities of diagnosis and treatment. Material and methods: The results are obtained from the research project titled «Evolutionary aspects of the metabolic syndrome in children under treatment with gastrointestinal lipase inhibitors», with code 20.80009.8007.33, within the State Program 2020-2023, carried out in the scientific laboratory of pediatric cardiology of the IMSP Institute of Cardiology, Republic of Moldova. The study included 43 children aged 10-18 years (general research group), diagnosed with metabolic syndrome (MS), estimated according to the IDF 2007 criteria. The gender ratio was: 24 (55.8%) boys and 19 (44.2%) girls. The control group consisted of 50 children (normotensive and normoweight), of similar age (25 children each (50% in each age category) - 26 (52%) boys and 24 (48%) girls), without hereditary and family anamnesis aggravated by cardiovascular pathologies, obesity and type II diabetes. Depending on the treatment received in addition to the non-pharmacological treatment, the children were divided into 3 groups: group I received ACE inhibitors (angiotensin converting enzyme inhibitors), group II - gastrointestinal lipase inhibitors (orlip), group III - ACE inhibitors and gastro lipase inhibitors -intestinal (orlip). Risk factors were assessed according to a specially developed questionnaire. Serum adipokines (leptin, adiponectin) and TNF-α were evaluated by the immunoenzymatic ELISA method, hs-CRP by the latex-immunoturbidimetry method, and serum insulin by the immunochemical method with electrochemiluminescence detection (ECLIA). The study protocol was approved by the Medical Ethics Committee. Results: Most of the children were sedentary, had poor nutrition, as well as a hereditary history aggravated by hypertension and obesity. Also, in the families of these children, more harms were encountered: chronic stress (divorced parents, conflicts with parents, schoolmates, teachers, etc.), as well as exposure to passive smoking. The serum level of leptin (35,4±2,61 vs 7,9±0,23 ng/ml; p<0.001), hs – CRP (3,0±0,44 vs 0,2±0,01 mg/l; p<0.001), TNFα (9,1±0,43 vs 3,1±0,09 pg/ml; p<0.001) was higher, and adiponectin (5,1±0,38 vs 11,0±0,33 μg/ml; p<0.001) lower in children with metabolic syndrome, compared to the control group. Regardless of the medication administered, all drug combination formulas contributed to the decrease in the degree of obesity, blood pressure values, blood fat levels, as well as serum insulin values in the interval of 3 months after the initiation of the medication. Conclusion: The causes of metabolic syndrome in children are multiple and involve interactions between genetic, environmental (sedentary, high-calorie diet), hormonal and metabolic factors that ultimately lead to the appearance of the conditions that characterize this syndrome. Hypoadiponectinemia, hyperleptinemia, and increased serum PCRhs and TNFα values suggested that these adipokines/cytokines contribute to subclinical inflammation in children with MS and may also serve as biomarkers of MS. In combination with a low-calorie diet, regular exercise, and behavioral changes, treatment with gastrointestinal lipase inhibitors may help reduce the degree of obesity and hypertension, respectively.

Vzaiemozviazok mizh problemamy zi somatychnym zdoroviam u ditei doshkilnoho viku ta porushenniamy psykhomotornoho rozvytku

Introduction. Multiple studies show the presence of interconnection between co-morbidity and psychomotor development disorders in children. The aim of the study. To identify the relationships between the problems with somatic health in preschool children (3-7 years old) and disorders of their psychomotor development. Materials and methods. Clinical and laboratory examination of 70 children was carried out in a randomized manner with preliminary stratification according to the presence of psychomotor development disorders regarding the somatic and infectious diseases and birth defects they had at the time of the examination and in the anamnesis. The examined group consisted of 70 children of preschool age (3-7 years) with psychomotor development disorders. Statistical processing included calculations using R. E. Fisher’s angular transformation and correlation analysis. Results. The results of the multiple conducted researches prove that the frequency of comorbidities, primarily somatic, in children with psychomotor development disorders is higher than in the general population. The combined influence of adverse environmental conditions, perinatal factors, nutritional disorders, nutritional behavior, reduced motor activity, neuroinflammation, immune response disorders, abnormalities in the quantitative and qualitative species composition of the intestinal microbiota, the phenomenon of an abnormally high microbial load on the organism, violations of interaction in the brain-gut axis, autonomic and mitochondrial dysfunctions, oxidative stress, sensory hypersensitivity, behavioral problems, sleep disorders, increased anxiety and irritability inherent in this children, can be the main reason for this. It is also worth to mention the presence of atopy and dyspeptic manifestations in many examined children, which, presumably, can be components of the food allergy complex of symptoms. It is worth noting, that in most of the subgroups we selected, there were children with physical development disorders, in all subgroups cases of infectious diseases were found in the anamnesis of children, as well as burdened family and allergic anamnesis, which can be caused by both adverse environmental factors and peculiarities, inherent in children with psychomotor development disorders. Among somatic diseases, respiratory ailments dominate in all studied subgroups. There is also a significant share of children with a burdened family and allergy history, atopic dermatitis, lesions of the ears and throat. We found full dependence, as well as medium strength and weak direct reliable correlation between somatic and infectious diseases, present in a significant part of the examined children with psychomotor development disorders, burdened allergic anamnesis and burdened family anamnesis (which conforms with a higher susceptibility to allergic diseases in children with psychomotor development disorders, in particular with mental retardation and ASD) in all subgroups, and also physical development disorders. It is necessary to include a personalized approach into the complex of rehabilitation of children with psychomotor development disorders, with simultaneous correction of existing comorbid pathological symptoms and neurological disorders, inherent in this category of children. Conclusions. Correlation between respiratory infections and a number of somatic and infectious diseases, disorders of physical development, burdened allergic and family history among the examined children in all the subgroups selected by us, which consists in the detection of complete dependence and a reliable correlation of varying strength, have been established.

An Induced Pluripotent Stem Cell Line (ICGi023-A) Obtained from a Patient with Parkinson’s Disease Associated Polymorphisms in <i>LRRK2</i> and <i>PINK1</i> Genes

Parkinson’s disease is a neurodegenerative disorder with a range of causes, only 5% of which can be explained by known genetic variants. We revealed polymorphisms in LRRK2 and PINK1 genes of a person with parkinsonism cases in family anamnesis. PBMCs of the patient were reprogrammed with a non-integrating episomal vectors to generate an induced pluripotent stem cell (iPSC) line. The iPSC line showed typical morphology and normal karyotype, expressed pluripotency markers, and was capable to differentiate into three germ layers. The iPSCs represent a valuable tool for investigating a potential implication of the genetic variants into the Parkinson’s disease pathogenesis.

Риски венозных тромбоэмболических событий при больших акушерских синдромах

Aim: Based on the study of the history, course of pregnancy and childbirth, to assess the risks of venous thromboembolic events among women with major obstetric syndromes. Design: Retrospective cohort study using the continuum sampling method. Materials and methods. 200 birth histories were analyzed: group 1 — 55 women with great obstetric syndromes, group 2 — 145 pregnant without them. The history of women, pregnancy outcomes were studied, and an analysis of the risks of venous thromboembolic complications was carried out. Results. Anamnestic risk factors for major obstetric syndromes were a family history aggravated by early thromboembolic events (RR = 3,13; 95% CI: 1,34–7,30), unemployed status (RR = 1,73; 95% CI: 1,32–2,65), preeclampsia in the past (RR = 23,46; 95% CI: 1,28–428,80), first pregnancy (RR = 1,63; 95% CI: 1,04–2,55), chronic arterial hypertension (RR = 8,45; 95% CI: 1,76–40,66). There was a significant increase in the risk of venous thromboembolic complications in patients of group 1 during pregnancy (1 (1–2) points; p < 0.001) and in the postpartum period (3 (1–4) points; p < 0.001). Conclusion. Prognostic markers of great obstetric syndromes were aggravated family and personal obstetric anamnesis, parity, low social status, chronic arterial hypertension. A significant increase in the risk of venous thromboembolic complications in pregnant women and puerperas with major obstetric syndromes was revealed. Keywords: great obstetric syndromes, preeclampsia, risk factors, venous thromboembolic complications.

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Background: Colorectal cancer (CRC) is the third most common cancer in Estonia in both women and men. According to the Estonian National Institute for Health Development, in 2017, there were 357 new colon cancer only cases in women and 282 in men. For colorectal cancer, the number for men and women altogether was 1040 in the same year. In 2018, there were over 1.8 million new cases worldwide. The Mayo Clinic found in a prospective, two-year multi-site study of CRC patients that 15.5% of patients carried pathogenic germline variants (PGV), using an >80 gene Next Generation Sequencing (NGS) panel. Material and methods: This retrospective study aimed to analyse the estimated prevalence of pathogenic/likely pathogenic germline variants in Estonian colorectal cancer patients using NGS in a routine clinical setting. We gathered five-year data (July 2016-July 2021) of colorectal cancer patients (mostly not selected for age or family history) tested with either Illumina TruSight Cancer (94 genes) or TruSight Hereditary Cancer (113 genes) NGS panels. Results: Three hundred and fourteen NGS analyses were performed due to either CRC or polyposis in anamnesis and/or family anamnesis, including 126 CRC cases and 44 colorectal polyposis cases, while 144 were either healthy family members or had other types of cancers. While a known disease-causing variant was identified in 16.4% of all cancer patients tested, we found that 21.4% of CRC patients had such a variant. Among the 44 colorectal polyps cases MLH1, gene was the most affected one (25%), the second and third most affected genes were MSH2 and CHEK2. Other genes with disease-causing variants found in CRC patients included APC, BLM, BMPR1A, BRCA1, FANCM, MSH6, MUTYH, PMS2, SMAD4, SPINK1 and VHL. Conclusion: Our result give an overview of genetic testing of CRC patients, the prevalence of disease-causing variants and their landscape in Estonia. According to Estonian data, only 2.7-6.1% of CRC patients are genetically tested, which is around ten times less frequently than breast cancer patients and their family members. The diagnostic yield of CRC patients is 21.4%, suggesting that genetic testing will likely improve timely diagnosis and outcomes.

Спадкова мікросфероцитарна гемолітична анемія в дітей: діагностичний алгоритм типового та атипового перебігу

Anemic syndrome in a child in the practice of a primary care doctor is a frequent problem that requires a balanced differential diagnosis. Features of the course and difficulties in the diagnosis of hemolytic anemia require attention to key points. Hemolytic anemia is characterized by a reduction in the life span of erythrocytes, which is clinically manifested by jaundice due to indirect hyperbilirubinemia, splenomegaly, and skeletal deformities during a long course. Considering the seriousness of the prognosis for hemolytic anemia, it was considered appropriate to demonstrate specific practical nuances of managing such patients in specific clinical cases. Clinical cases clearly demonstrate the need for careful collection of family anamnesis and additional examination of brothers/sisters, parents when hereditary microspherocytosis is suspected. Diagnostic criteria of hereditary hemolytic anemia are: jaundice (due to indirect hyperbilirubinemia), splenomegaly, anemia, reticulocytosis, similar cases in the family. It is presented a case when hemolytic crises in a child were accompanied by a transient increase in liver transaminases, in the absence of changes in ultrasound examination and negative markers of viral hepatitis. Conclusions. An anemic syndrome established in a child in combination with reticulocytosis requires a targeted examination for hemolytic genesis of anemia. At the same time, it should be remembered that in the case of an atypical course of hereditary microspherocytosis, the patient needs a comprehensive examination and dynamic monitoring of the course of hemolytic anemia in order to prevent serious complications. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the author.

Personalized target therapy for severe bronchial asthma in combination with polypous rhinosinusitis

Bronchial asthma is a current problem of health care in connection with high prevalence and heterogeneity of a disease. Development and deployment in clinical practice of genetically engineered biological medicines for treatment of patients with severe eosinophilic bronchial asthma allowed to change cardinally the course of a disease and to considerably improve quality of life of such patients. The presented clinical case focuses on the experience of using benralizumab, an interleukin-5 receptor antagonist in a patient with T2-endotype of severe bronchial asthma in combination with polypous rhinosinusitis. The diagnosis of bronchial asthma was established to the patient in 36 years. The patient had the burdened allergological personal and family anamnesis, intolerance of nonsteroid anti-inflammatory medicines, polyps in a nose were revealed later. It is known that the clinical phenotype of a combination of bronchial asthma to a polypous rhinosinusitis is difficult for treatment in connection with the inflammation which was more expressed, difficult giving in to control in airways. Over time the course of a disease was made heavier, control of symptoms was lost and, despite the therapy volume corresponding to the 5th step on GINA, including reception of system glucocorticosteroids, an exception of all factors interfering achievement of control regular symptoms and frequent aggravations remained. In accordance with the Federal Guidelines, the patient was prescribed targeted therapy with benralizumab, which suppresses eosinophilic inflammation in the respiratory tract. During the treatment, a rapid significant improvement in the patient’s condition was noted in the form of a decrease in asthma symptoms, normalization of spirography indicators, and cessation of exacerbations. The persistent clinical effect allowed to abandon the use of systemic glucocorticosteroids without losing control of the disease. There were no adverse reactions to the drug administration. Thus, therapy with benralizumab in patients with the T2-endotype of severe bronchial asthma in combination with polypous rhinosinusitis is safe and highly effective and allows it to be recommended for widespread use in clinical practice.

28 Osteoarticular manifestations simulating JIA in acute leukemia: case report and literature review

BackgroundThe osteoarticular manifestations are proven during hematological malignancies in children, they can be the revealing symptom of the disease, and they may simulate a full clinical picture of Juvenile Idiopathic Arthritis (JIA), especially if no blasts are found in blood smear. Some therapies are common to both diseases, which commonly delay diagnosis for a couple of months and worsens the prognosis of these malignancies. We report three observations of patients treated for JIA which turned out to be acute leukaemia.Clinical caisesThe first patient is a 7-year-old male followed in pediatric rheumatology consultation for a monoarticular onset JIA. Since the patient did not respond to indomethacin, a bone marrow examination (BME) was performed before corticosteroid therapy (CST), no blasts were found. The patient received 01 month of CST which led to the amendment of clinical and biological signs, however, joint pain and bicytopenia reappeared after we started CST reduction. Blood and blood marrow smear were performed, leading to the diagnosis of acute B-lymphoblastic leukaemia.The second patient is a 4 years old male admitted for exploration of polyarthritis with cervical lymphadenopathy, the initial assessment allowed the diagnosis of JIA with polyarticular onset. Indomethacin is prescribed, without any improvement. Radiological assessment was performed, as well as a complete blood count (CBC) which found neutropenia with lymphopenia, and blasts were discovered in the second BME.The third patient is a 6-year-old female admitted for exploration of arthralgia and pathological fractures. Radiological signs in favor of leukaemia and normochromic aregenerative normocytic anaemia were revealed, allowing the diagnosis of ALL B to be made after several consultations in rheumatology.DiscussionJoint damage during leukaemia, called leukaemic arthritis, is frequent, complicating 12% to65% of pediatric leukaemia, most often ALL. It is linked to specific damage by leukaemic infiltration of the synovium or less likely to a synovial reaction to adjacent periosteal or capsular infiltration. In JIA there are incomplete or atypical forms, the differential diagnoses to be sought are numerous and depend on age, personal and family anamnesis and clinical, biological, hematological and radiological signs. The dread of a haematological malignancy must constantly be sought and excluded before the use of CST, which is one of the therapeutic weapons in ALL, thus causing the blasts to disappear and delaying the diagnosis.ConclusionThe diagnosis of JIA must be made with caution, raise the possibility of haematological malignancy in children in the absence of response to usual treatments, in the presence of systemic signs such as fever or a persistent biological syndrome or atypical radiological lesions, hence the correct analysis of the CBC and the blood and marrow smears is clearly important.

Features of a clinical flow and diagnostics of patients with the family anamnesis of inactive adenomas of hypophysis (IAH)

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Abnormal uterine bleeding during puberty: to the pathogenesis and diagnosis

The objective: to study the genetic aspects of the pathogenesis of abnormal uterine bleeding during puberty (AUB PP) and to evaluate the effectiveness of diagnostic measures taking into account the presence or absence of mutations in the MTHFR C677T gene.Materials and methods. Sixty girls with a history of AUB PP were included in the main group and 30 healthy girls without AUB consisted the control group. The main group is divided into three subgroups: the 1st subgroup (n=20) – the girls with AUB PP, born from the mothers with physiological pregnancy; the 2d subgroup 2 (n=20) – the girls with AUB PP, born form the mothers whose pregnancy was complicated by preeclampsia; the 3d subgroup (n=20) – the girls with AUB PP, born from the mothers with a history of miscarriage.All persons were examined with the study of reproductive and menstrual functions, the assessment of hormonal status, family and hereditary anamnesis, ultrasound examination of the pelvic organs in the dynamics of the menstrual cycle. Depending on the duration of bleeding and the severity of compensatory disorders, the severity of anemia the mutations in the MTHFR C677T gene and homocysteine ​​concentration were determined in girls and their mothers in the blood, the assessment of menstrual blood clotting and morphological status of the endometrium were performed.Results. The mothers of girls with AUB PP had pregnancy complications significantly more often (reccurent miscarriages – 28.0 %, preeclampsia - 25.8 %) than mothers of healthy girls (14.0 % and 12.2 %, respectively), in 55,0 % of cases a mutation in the MTHFR C677T gene was detected, which is absent in mothers of healthy girls. The majority of girls with AUB PP born from the mothers with a history of miscarriage (70.0 %) or preeclampsia (60.0 %) was 7 and 6 times more likely to have mutations in the MTHFR C677T gene, respectively, than girls with AUB PP who were born from the mothers with physiological pregnancies without complications (10.0 %). Mutation of the MTHFR C677T gene was found in 3.3 % of healthy girls.Serum homocysteine ​​levels in girls and their mothers who had the MTHFR C677T gene mutation were 6.0±1.2 and 8.0±1.0 μmol/L, respectively, and did not differ significantly from those in girls and mothers without the mutation. The clinical picture and state of the hemostasis system in girls with AUB PP and the presence of mutations in the MTHFR C677T gene also did not differ significantly from the clinical picture of girls with AUB PP without this mutation and healthy girls. But in the menstrual blood of girls with AUB PP and mutations in the MTHFR C677T gene, hyperfibrinolysis was significantly more pronounced than in the menstrual blood of healthy girls and girls with AUB PP without gene mutations.Conclusions. The analysis of the presence of mutations in the MTHFR C677T gene in girls with AUB PP demonstrates that mutation in this gene is 6 times more often in patients who were born from the pregnancies complicated by preeclampsia, and 7 times more often in girls with AUB PP who were born from the mothers with pregnancy loss in the anamnesis, in comparison with those who were born from physiologically normal pregnancy.

The prediction of different phenotypes of preeclampsia in the first trimester of pregnancy (two-center retrospective study)

AIM: The aim of this study was to determine the effectiveness of predicting the development of placental or maternal preeclampsia (PE) by clinical and anamnestic risk factors and results of the combined screening in first trimester of pregnancy.
 MATERIALS AND METHODS: This two-center retrospective case-control study included the data analysis of somatic status, the obstetric and gynecologic anamnesis, and the results of the combined screening of 373 women in the first trimester of pregnancy. The control group consisted of 200 women with physiological course of pregnancy and labor. The main group comprised 173 patients whose pregnancy was complicated by early-onset (n = 44, 25%) or severe late-onset (n = 129, 75%) PE. We analyzed more than 100 clinical and anamnestic risk factors for PE implementation and evaluated the risk of developing PE at 11.0-13.6 weeks of gestation using the Fetal Medicine Foundation calculator.
 RESULTS: Maternal risk factors for PE development are identical for clinical phenotypes, except for the family anamnesis of arterial vascular accidents in first-line relatives under 45 years of age, which are significantly interfaced to risk of placental PE development (OR 6.38, 95% CI 2.002.28; p = 0.0017). A comprehensive assessment of clinical and anamnestic data at 11.0-13.6 weeks of gestation allows for predicting the implementation of maternal severe PE in 36.7% of cases and placental PE in 29.6% of cases with an identical false positive rate of 10.5%. Carrying out the combined screening in the first trimester allows for determining the risk of PE development up to 37 weeks without differentiation by clinical phenotypes, with a test sensitivity of 53.9% at a false positive rate of 34.7%.
 CONCLUSIONS: The prediction of placental or maternal PE development in the first trimester of pregnancy is possible only by maternal, clinical and anamnestic risk factors with a low predictive value of the test. Carrying out the combined screening with the inclusion of maternal risk factors, uterine artery pulsation index and pregnancy-associated plasma protein-A level increases the predictive value of the test for PE development up to 37 weeks from 37.6% to 53.6% at a high rate of false positive results. Validation of medical technologies for predicting clinical PE phenotypes in the population of women, taking into account a territorial origin and risk factors, will allow for defining the shortcomings of the model and improving its predictive value.

ВОЗМОЖНОСТИ МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКОГО АНАЛИЗА ДЛЯ ПРЕНАТАЛЬНОЙ ДИАГНОСТИКИ

Many genetic disorders are found in the prenatal period. The ability to detect them has increased significantly as molecular genetic testing methods have been improved and introduced into clinical practice. Indications for prenatal genetic testing vary widely, and include abnormalities found on ultrasound or aneuploidy screening, family anamnesis of genetic disorders in the parents, advanced age of the mother and/or father. Interpretation of genetic variants identified in the prenatal period presents a unique challenge due to the need to make important decisions regarding pregnancy continuation and perinatal management. This review analyzes the methods that are used for genetic testing, including preimplantation genetic testing of embryos, cell-free DNA testing, as well as diagnostic procedures such as chorionic villus sampling, amniocentesis or percutaneous umbilical cord blood sampling, which provide samples for a wide range of genetic tests. The analysis of the advantages and disadvantages of various fetus genetic diagnostic methods, as well as strategies for their optimal use during perinatal care, was carried out.

Proposal of a Basic Documentation for Child, Adolescent and Family Psychosomatics Based on a Synopsis of Basic Documentations for Children, Adolescents and Adults

In psychiatry, psychosomatics and psychotherapy, basic documentation (BaDo) is used as a quality assurance tool. For the field of child, adolescent and family psychosomatics, there is no uniform BaDo that can be used across facilities and care areas. The aim of the study was to propose a catalog of characteristics for the context of psychosomatic treatment of children and adolescents on the basis of a synoptic comparison of established BaDos METHODS: In the context of a qualitative document analysis, BaDo items from the children/youth and adult sector were evaluated in content analysis along a category system. The resulting aspects were then classified according to age and multidisciplinary content and evaluated with regard to their child/youth specificity. Descriptive statistical analysis of the results was performed RESULTS: Aspects of the categories Family Anamnesis and Biographical Anamnesis specified a BaDo for children and adolescents. For BaDos from the psychosomatic field, a record of pre-treatments was accentuated across age groups. The recording of socio-demographic data had to be adapted conceptually to the age-related needs of children and adolescents. CONCLUSION: On the basis of an empirical approach, a modular BaDo for child, youth and family psychosomatics could be formulated that enables institutional, sectoral and interdisciplinary evaluations. In a next step, the instrument should be evaluated in an application study and be consented to on a broad level.

Харчова поведінка та якість життя школярів старших класів м. Львова

Актуальність. Негативна динаміка захворюваності дитячого населення та щорічне її збільшення свідчать про необхідність посилення уваги до проблеми, передусім до забезпечення дієвого профілактичного компонента. Аналізуючи причини негативної динаміки показників стану здоров’я дітей та молоді в Україні, не можна ігнорувати спосіб життя, що в структурі чинників впливу на формування стану здоров’я займає провідні позиції. Мета дослідження — вивчення особливостей способу життя, харчової поведінки школярів старших класів та їх впливу на основні показники якості життя. Матеріали та методи. Спосіб життя та харчову поведінку 80 здорових дітей віком 14–17 років було вивчено за допомогою анкети, що містила питання про сімейний анамнез, житлово-побутові умови, харчування та режим дня. Для оцінки основних параметрів якості життя було використано опитувальник MOS SF-36. Результати. Аналіз опитування показав, що 45 % дітей щоденно вживають м’ясні продукти промислового виробництва. Страви з риби в щоденному раціоні дітей наявні лише в 13,8 % випадків. Молоко і молочні продукти відзначені в щоденному раціоні менше ніж у половини опитаних дітей (35 %). Виявлено високий відсоток вживання підлітками слабоалкогольних напоїв (15 %). З’ясовано, що 45 % дітей проводять більше 3 годин на день за комп’ютером або біля телевізора, лише 22,5 % гуляють на свіжому повітрі більше 2 годин на добу. Показники якості життя були вірогідно вищі за шкалою життєздатності в дітей при тривалості прогулянок більше 2 годин на день. У дітей, які повноцінно обідають щодня, вірогідно вищі показники соціальної активності, значення за шкалою психологічного здоров’я і шкалою життєздатності. Відзначено вірогідне зниження показника життєздатності в групі дітей із тривалим перебуванням біля комп’ютера (3 години і більше). У школярів, які займаються в спортивних секціях, вірогідно вищі показники якості життя за шкалою психологічного здоров’я і шкалою загального здоров’я. У дітей із тривалістю нічного сну 8 годин відзначена вірогідно вища емоційна стабільність за шкалою емоційного функціонування (р < 0,05). Висновки. Раціон харчування сучасних школярів не відповідає встановленим нормативам. Це може бути фактором ризику гастродуоденальної патології в майбутньому, тому потребує систематичної корекції. Крім раціонального харчування, чинниками, що впливають на самопочуття та психоемоційний статус школярів, є дозовані фізичні навантаження, регулярні прогулянки на свіжому повітрі та обмежене користування комп’ютером. Оцінка якості життя є простим та інформативним методом комплексного вивчення стану здоров’я школярів і може бути рекомендована до широкого застосування в педіатрії.