Minor Anomalies Research Articles

External Ear Anomalies and Minor Physical Anomalies in Depressive Disorder Patients and Healthy Controls

External Ear Anomalies and Minor Physical Anomalies in Depressive Disorder Patients and Healthy Controls

Potential for Maternally Administered Vaccine for Infant Group B Streptococcus

BackgroundNatural history studies have correlated serotype-specific anti–capsular polysaccharide (CPS) IgG in newborns with a reduced risk of group B streptococcal disease. A hexavalent CPS–cross-reactive material 197 glycoconjugate vaccine (GBS6) is being developed as a maternal vaccine to prevent invasive group B streptococcus in young infants.MethodsIn an ongoing phase 2, placebo-controlled trial involving pregnant women, we assessed the safety and immunogenicity of a single dose of various GBS6 formulations and analyzed maternally transferred anti-CPS antibodies. In a parallel seroepidemiologic study that was conducted in the same population, we assessed serotype-specific anti-CPS IgG concentrations that were associated with a reduced risk of invasive disease among newborns through 89 days of age to define putative protective thresholds.ResultsNaturally acquired anti-CPS IgG concentrations were associated with a reduced risk of disease among infants in the seroepidemiologic study. IgG thresholds that were determined to be associated with 75 to 95% reductions in the risk of disease were 0.184 to 0.827 μg per milliliter. No GBS6-associated safety signals were observed among the mothers or infants. The incidence of adverse events and of serious adverse events were similar across the trial groups for both mothers and infants; more local reactions were observed in the groups that received GBS6 containing aluminum phosphate. Among the infants, the most common serious adverse events were minor congenital anomalies (umbilical hernia and congenital dermal melanocytosis). GBS6 induced maternal antibody responses to all serotypes, with maternal-to-infant antibody ratios of approximately 0.4 to 1.3, depending on the dose. The percentage of infants with anti-CPS IgG concentrations above 0.184 μg per milliliter varied according to serotype and formulation, with 57 to 97% of the infants having a seroresponse to the most immunogenic formulation.ConclusionsGBS6 elicited anti-CPS antibodies against group B streptococcus in pregnant women that were transferred to infants at levels associated with a reduced risk of invasive group B streptococcal disease. (Funded by Pfizer and the Bill and Melinda Gates Foundation; C1091002 ClinicalTrials.gov number, NCT03765073.)

FEATURES OF THE DEVELOPMENT AND HEALTH CONDITION OF CHILDREN CONCEIVED BY IN VITRO FERTILIZATION

Aim: To study the anamnesis, development parameters and health condition in the first year of life of the children conceived by IVF. Materials and Methods: 116 children born by IVF and 46 children born in natural pregnancy were examined. Results: In most cases of our study, children after IVF were born prematurely from women with a bad obstetric and gynecological history and had a low birth weight. The period of early adaptation in premature infants born after assisted reproductive technologies was complicated by respiratory distress syndrome. Most often the children after IVF had such pathologies as central nervous system damage, deficiency anemia and minor anomalies of heart development in the neonatal period. Compared with children born in natural pregnancy, infectious diseases were more often detected in newborns after IVF. The development of bronchopulmonary dysplasia was significantly more frequent in children after IVF within a month of life. At six months, most of the IVF babies had low parameters of physical development, whereas weight and growth indicators did not differ significantly from the general population indicators by the first year of life. Most of the children born after IVF had neurological outcomes, such as delayed psychomotor development, malfunctioning of the autonomic nervous system, convulsive syndrome by the year of life. Conclusion: Children born after IVF have features of somatic status, neuropsychiatric and physical development, which indicates the need for targeted monitoring and continued research in this group of children to minimize health risks.

O-079 Perinatal and postnatal outcomes up to the third year of life after the transfer of mosaic embryos compared with euploid embryos

Abstract Study question Are perinatal and postnatal outcomes different following the transfer of blastocysts diagnosed as low-grade mosaic compared to euploid embryos? Summary answer Our study did not show any significant difference between children conceived after transferring low-grade mosaic versus euploid embryos regarding perinatal outcomes and physical health. What is known already A considerable percentage of embryos are classified as mosaic in IVF-cycles with preimplantation genetic testing for aneuploidy (PGTA). Although societies, such as Preimplantation Genetic Diagnosis International Society (PGDIS), have proposed recommendations for the transfer of these embryos, there is no worldwide consensus on the classification, especially in terms of the level of mosaicism, and their clinical management. There are studies on clinical outcomes in terms of implantation and pregnancy, and some of them have reported the birth of healthy children. However, studies evaluating perinatal outcomes and, physical health and development during childhood are limited. Study design, size, duration This retrospective cohort study includes 172 children born after the transfer of a single embryo analysed with PGT-A using next-generation sequencing (NGS), between October-2017 and August-2022. Children were divided into two groups, according to whether they were classified as euploid (n = 115) or mosaic embryo (n = 57) after PGT-A. All mosaic embryos carried a level of mosaicism below 50%. Data related to the level of mosaicism, number of chromosomes involved or type of alteration were reviewed. Participants/materials, setting, methods This study analyses clinical parameters/outcomes during gestation, birth and postnatal period, including prenatal test, pregnancy and delivery complications, type of delivery, breastfeeding, incubator/neonatology stay, congenital anomalies, maternal and gestational age, birth weight, height and head circumference, Apgar-score and health problems or chronic diseases until today. The oocyte/sperm age and their origin were also analysed. The differences between groups were evaluated by R (4.2.0). In children from mosaic embryos, postnatal karyotyping was offered to the parents. Main results and the role of chance According to mosaicism characteristics, 61.4% of embryos had 25-39% of mosaicism and 38.6% had 40-50%, 82.5% had one chromosome affected and 17.5% two chromosomes. No significant differences were observed between the euploid and mosaic groups in pregnancy and delivery complications, type of delivery and gestational age (39.22±1.92 weeks in euploid group vs 39.00±1.78 in mosaic), however maternal age was higher in mosaic group (40.07±3.32y vs 38.27±3.06y, p < 0.001). Regarding newborn parameters, no differences were reported in birth weight, height and head circumference in euploid group compared to mosaic group (3222±581 vs 3227±530g, 49.92±2.67 vs 50.13±2.65cm, 34.50±1.87 vs 34.50±1.86cm; p > 0.05), neither in the Apgar-score (8.58±2.48 vs 8.96±1.79, p > 0.05) nor in the incubator/neonatology stay. With regard to congenital anomalies, their incidence was similar in both groups (8.7%, euploid vs 7.0%, mosaic) and in all cases were minor anomalies. No health problems/chronic diseases were recorded in either group, with the average age of the child at present being 3.48±0.81y in euploid group and 2.92±1.32y in mosaic. Prenatal testing was higher in the mosaic group, being carried out in 49.1% of pregnancies (23 non-invasive test and 4 amniocentesis) with normal result. Moreover, postnatal karyotype was performed in 6 children from mosaic group with normal result. Limitations, reasons for caution This study was limited by the sample size. Further larger studies are needed to ensure that the health outcome of children conceived after low-grade mosaic embryo transfer is comparable with children conceived after euploid embryo transfer. Wider implications of the findings Data following the transfer of blastocysts diagnosed as mosaic remain limited, especially in terms of neonatal/early-childhood outcomes. Our study suggests that the transfer of low-grade mosaic embryos lead to healthy children and provides further perinatal and postnatal clinical data. The normal prenatal/postnatal karyotype in the analyzed cases provides further reassurance. Trial registration number Not applicable

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.

Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease. To perform a cross sectional comparison of ECG abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing ECG patterns specific of the progressive AFD stages. 189 AFD patients from a multicenter cohort underwent comprehensive ECG analysis, echocardiography, and clinical evaluation. The study cohort (39% males, median age 47 years, 68% classical AFD) was divided into 4 groups according to different degree of left ventricular (LV) thickness: group A ≤ 9 mm (n = 52, 28%); group B 10-14 mm (n = 76, 40%); group C 15-19 mm (n = 46, 24%); group D ≥ 20 mm (n = 15, 8%). The most frequent conduction delay was right bundle branch block (RBBB), incomplete in groups B and C (20%,22%) and complete RBBB in group D (54%, p < 0.001); none of the patients had left bundle branch block (LBBB). Left anterior fascicular block, LVH criteria, negative T waves, ST depression were more common in the advanced stages of the disease (p < 0.001). Summarizing our results, we suggested ECG patterns representative of the different AFD stages as assessed by the increases in LV thickness over time (Central Figure). Patients from group A showed mostly a normal ECG (77%) or minor anomalies like LVH criteria (8%) and delta wave/slurred QR onset + borderline PR (8%). Differently, patients from groups B and C exhibited more heterogeneous ECG patterns: LVH (17%; 7% respectively); LVH + LV strain (9%; 17%); incomplete RBBB + repolarization abnormalities (8%; 9%), more frequently associated with LVH criteria in group C than B (8%; 15%). Finally, patients from group D showed very peculiar ECG patterns, represented by complete RBBB + LVH and repolarization abnormalities (40%), sometimes associated with QRS fragmentation (13%). ECG is a sensitive tool for early identification and long-term monitoring of cardiac involvement in patients with AFD, providing "instantaneous pictures" along the natural history of AFD. Whether ECG changes may be associated with clinical events remains to be determined.

Eye dominance and minor physical anomalies in schizophrenia: relations between two biological markers of abnormal neurodevelopment

Background To investigate the frequency of left eye dominance and minor physical anomalies (MPAs) in schizophrenia patients and control subjects and determine the interrelations of these two biological markers of neuronal dysontogenesis in schizophrenia. Subjects and methods Three tests for eye dominance were administered as performance tasks, not preference questionnaires. Seven MPAs were examined. The sample consisted of 180 (98 schizophrenia patients and 82 control subjects). Several statistical methods for examining the eye tests separately and together were used to assess the difference in left-eyedness between schizophrenia patients and control subjects. Results Left eye dominance is significantly higher in schizophrenia subjects. Left-eyed subjects are more stigmatized with MPAs. There is a strong positive correlation between left-eyedness and stigmatization with MPAs in schizophrenia patients. Conclusion As hand dominance is under cultural pressure, eye dominance is culturally independent and is useful and reliable indicator of altered hemispheric lateralization. The significant positive correlations between left-eyedness and MPAs and the high concurrence of these biological markers in schizophrenia patients are a potent indicator of underlying aberrant neurodevelopment.

Adverse infant outcomes following low-risk pregnancies in England: a retrospective cohort study

BackgroundThere are limited data describing adverse infant outcomes in infants born to women with a low risk of complications during pregnancy, such as those who may be enrolled in maternal immunization trials. This retrospective study estimated incidence proportions of infant outcomes in different cohorts of liveborn infants in England between 2005 and 2017.MethodsThe incidence proportions of 10 infant outcomes were calculated for liveborn infants from pregnancies represented in the Clinical Practice Research Datalink (CPRD) Mother-Baby Link (MBL) and linkage to Hospital Episode Statistics (HES). Three infant cohorts were designed: (1) the all pregnancies infants cohort (N = 185,119), (2) the all pregnancies with a gestational age (GA) ≥ 24 weeks infants cohort (N = 183,869), and (3) the low-risk pregnancies infants cohort (LR infants cohort, N = 121,871), which included pregnancies with a GA ≥ 24 weeks and no diagnosis of predefined high-risk medical conditions until 24 weeks GA.ResultsThe most common adverse infant outcome in the three infant cohorts was macrosomia (e.g., 1,085.9/10,000 live births in the LR infants cohort), followed by minor congenital anomalies (e.g., 800.6/10,000 in the LR infants cohort), very low/low birth weight (e.g., 400.6/10,000 in the LR infants cohort), and major congenital anomalies (e.g., 270.4/10,000 in the LR infants cohort). The incidence proportions for early-onset sepsis, very low/low birth weight, and minor and major congenital anomalies were lower in the LR infants than in the other cohorts (non-overlapping confidence intervals [CIs]). The incidence proportions of neonatal death, infant death, late-onset sepsis, macrosomia, small for GA, and large for GA were similar between cohorts (overlapping CIs).ConclusionsThis study generated background rates of adverse infant outcomes from liveborn infants of all and low-risk pregnancies represented in the CPRD Pregnancy Register MBL and linkage to HES. The results indicate lower incidence proportions of several adverse infant outcomes in infants from low-risk pregnancies compared to all pregnancies, illustrating the importance of considering maternal risk factors. These background rates may facilitate the interpretation of safety data from maternal immunization trials and of pharmacovigilance data from maternal vaccines. They may also be of interest for other interventions studied in pregnant women.

Prevalence of different echocardiographic abnormalities in a large Turkish workers population.

We aimed to investigate the echocardiographic characteristics of workers with resting major electrocardiography (ECG) anomalies and risk factors of sudden cardiac death in the large Turkish workers population in different heavy industry sectors. Between April 2016 and January 2020, 8668 consecutive ECGs were obtained and interpreted during health examinations of working in İstanbul, Turkey. ECGs were classified as major, minor anomaly, and normal according to the Minnesota code criteria. The workers with major anomaly on ECGs, recurrent syncope attacks, and family history (FH) of sudden or inexplicably death under the age of 50 and with a positive FH of cardiomyopathy were also referred to further transthoracic echocardiographic (TTE) examination. The mean age of the workers was 30.47±9.4years, most of them were male (97.1%) and under the age of 30 (54.2%). Major ECG changes were detected in 4.6%, and minor anomalies were 28.3%. A total of 663 workers were referred to our cardiology clinic for advanced TTE examination, but only 578 (87.17% of the selected) attended the appointment. Four hundred and sixty-seven (80.7%) echocardiography examinations were within normal limits. Echocardiographic imaging revealed abnormal findings in 98 cases (25.7%) in the ECG abnormalities group, three (4.4%) in the syncope group, and 10 (7.6%) in the positive FH group (p<.001). This work demonstrated the ECG findings and echocardiographic features of a large sample of Turkish workers from high-risk employment sectors. This is the first study conducted in Turkey on this subject.

IDENTIFICATION OF THE ANCIENT LAKES BASED ON GRAVITY METHODS IN BOROBUDUR TEMPLE

Indonesia is a country that's well known for its heritages. One of the heritages is Borobudur Temple. Several studies say that the Borobudur was enclosed by a lake. Therefore, this study aims to see the remains of an ancient lake below the surface with gravity method. The process stage begins with obtaining the CBA (Complete Bouger Anomaly) and continues by separating the anomaly with a Bandpass Filter, and followed with 3D inverse modeling and FHD (First Horizontal Derivative) analysis. According to the residual map, there are only minor anomalies in the west, south, and east, ranging in magnitude from -0.539 to (-0.209) mGal. This anomaly is consistent with the location of the ancient lake around Borobudur. In the meantime, the 3D modeling of the FHD study reveals a geologic structure surrounding the Borobudur with an anomaly ranging from 0.00289 to 0.00480 mGal. A deposit layer thought to be an ancient lake is visible between 50 and 525 meters in depth over the east and west sides of the Borobudur temple, and beneath it is visible between 250 and 525 meters. This depth map provides additional evidence that the ancient lake beneath the Borobudur is located between 250 and 525 meters.

A Study of the Clinical Profile and Management of Children With Anorectal Malformations.

Introduction The diagnosis of anorectal malformations (ARMs) antenatally is rare, and most of these cases are diagnosed in theneonatal period. The defects range from easily treated minor anomalies with good prognosisto those that are difficult and complex. The associated anomalies in these malformations are important determinants for the prognosis and outcome of these cases. Material and methods The present study was carried out in the department of pediatric surgery in a tertiary care institute. Patients presenting with ARMs in the neonatal period, those reported for definitive surgery, and patients for colostomy closure surgery were included. Patients who died before surgical treatment were excluded from the study. Convenience sampling of 100 patients who met the inclusion criteria was performed until the sample size was reached. Results Out of 63 cases of high variety, 84.12% were males and 15.87% were females. Out of 37 patients of low variety, 43.24% were males and 56.75% were females.The anomaliesof the urogenital system were present in 22 (34.92%) out of 63 cases of high ARMs and 10 (27.02%) out of 37 cases of low ARMs. In the male patients,anocutaneous fistula was in 16 (23.18%) of cases. Out of 31 females in the present study, anorectal agenesis with anovestibular fistula was seen in 19 (61.29%) cases. In the early complications, significant bleeding and urethral injury were seen in one (2.63%) patient each. However, among thelatecomplications, anal stenosis, mucosal prolapse, and wound infection were seen in seven (18.42%), five (13.15%), and four (10.52%) patients, respectively. Conclusion A holistic approach to the management of ARMs is needed with a long-term goal of achieving urinaryand fecal continence with good quality of life.The outcome of surgery is dependent on the specific type of malformation, but the results are better when intervention is done early.

Multifaceted case management during pregnancy is associated with better child outcomes and less fetal alcohol syndrome

Background Pregnant women participated in multifaceted case management (MCM) to prevent Fetal Alcohol Spectrum Disorders (FASD). Methods Women recruited from antenatal clinics for a longitudinal child development study were screened for alcohol use. Forty-four pregnant women were defined as high-risk drinkers on the Alcohol Use Disorder Identification Test (AUDIT) by an AUDIT score ≥8 and participated in 18 months of MCM to facilitate reduction or cessation of alcohol consumption. Forty-one women completed MCM. Fifty-five equally high-risk women who received standard antenatal care comprised the comparison/control group. Development in offspring was evaluated by a blinded interdisciplinary team of examiners through 5 years of age. Results At five years of age, more children (34%) of MCM participating women did not meet the criteria for FASD vs. non-MCM offspring (22%). Furthermore, a statistically significant (p = .01) lower proportion of MCM offspring (24%) was diagnosed with fetal alcohol syndrome (FAS) compared to controls (49%). Children of MCM participants had significantly (p < .05) better physical outcomes: lower total dysmorphology scores, larger head circumferences, longer palpebral fissures, and higher midfacial measurements. Neurodevelopment results showed mixed outcomes. While Bayley developmental scores indicated that MCM offspring were performing significantly worse on most domains through 18 months, group scores equalized and were not significantly different on Kaufman Assessment Battery neurobehavioral measures by five years. Regression analyses indicated that offspring of women who received standard antenatal care were associated with significantly more negative outcomes than MCM offspring: a diagnosis of FAS (OR = 3.2; 95% CI: 1.093–9.081), microcephaly (OR = 5.3; 95% CI: 2.1–13.5), head circumference ≤10th centile (OR = 4.3; 95%CI: 1.8–10.4), and short palpebral fissures (OR = 2.5; 95% CI: 1.0–5.8). Conclusion At age five, proportionally fewer children of MCM participants qualified for a diagnosis of FAS, and proportionally more had physical outcomes indicating better prenatal brain development. Neurobehavioral indicators were not significantly different from controls by age five. KEY MESSAGES Multifaceted Case Management (MCM) was designed and employed for 18 months during the prenatal and immediate postpartum period to successfully meet multiple needs of women who had proven to be very high risk for birthing children with fetal alcohol spectrum disorders (FASD). Offspring of the women who participated in MCM were followed up through age five years and were found to have significantly better physical outcomes on multiple variables associated with fetal alcohol syndrome (FAS) and FASD, such as larger head circumferences and fewer minor anomalies, than those children born to equally at-risk women not receiving MCM. Fewer children of women receiving MCM were diagnosed with FASD than the offspring of equally-at-risk controls, and significantly (p = .01) fewer MCM offspring had FAS, the most severe FASD diagnosis.

Chemical vectoring in continental geothermal systems: Composition of altered rocks and illite as guides to magmatic degassing

The Taupō Volcanic Zone, New Zealand, is one of the most voluminous volcanic regions on Earth. Over the last 1.8 Myr, bimodal volcanism in this rifted-arc setting has been dominated by voluminous rhyolite ignimbrite eruptions (>6000 km3 cumulative) and minor arc-type andesite and dacite, underpinned by basaltic intrusions. The combination of the magmatism and extensionally thinned arc crust with high heat flow has resulted in more than 23 active geothermal fields in the region. The fluids sampled in the geothermal systems are dominated by dilute meteoric fluids that are low in components such as acids, alkalis, and some trace metals commonly ascribed to magmatic sources but can contain large amounts of deep sourced magmatic volatiles such as CO2.This study was designed to assess the long-term (>20,000yr) fluid and metal input into two Taupō geothermal systems, and the amount and proportion of magmatic-derived components in these fluids. We collected major and trace element compositions of hydrothermal altered whole rocks and clay minerals from two active geothermal systems and compared them with hydrothermally altered rocks of the fossil (0.6 Ma) Ngatamariki magmatic-hydrothermal system, which has a demonstrated large magmatic contribution. The Ohaaki and Rotokawa geothermal systems have both been drilled to a depth of 3000 m, with sampled reservoir fluids containing low concentrations of chloride (∼1000 mg/kg) but high levels of gas (CO2, N2) that have previously been interpreted to reflect subduction components derived from arc-type magmas. Whole-rock samples lack enrichment in chloride-transported metals such as Cu, Pb or Zn but have minor anomalies of bisulfide-complexed Au, Sb, and As in the uppermost 1500 m of the geothermal reservoirs. Hydrothermal water-rock interactions in the deep reservoirs of both geothermal systems at temperatures between 220 and 300 °C produced assemblages of illite + albite + adularia + calcite + pyrite that are in equilibrium with the observed neutral to slightly acidic pH (6 ± 1) of the present-day fluids. In the lower temperature end of this range, Mg and Fe increasingly enter the illite crystal lattice via Tschermak-type (phengite) substitution, whereas a few high-temperature (>300 °C) samples contain scarce muscovite compositions. The illites commonly have low contents of most trace metals, although minor amounts of Cs, Li, Cu, Sb and Sn occur in near-surface samples. Based on these data, over the >20,000-year lifetime of the Ohaaki and Rotokawa geothermal systems, fluids were dominated by chloride-poor meteoric water and contained little magmatic contributions other than conducted heat, some gases (CO2 - N2 ± H2S), and a small fraction of the total H2O of geothermal waters. Therefore, the inferred magma bodies of intermediate to silicic composition that lie at shallow depth beneath these geothermal systems currently are not, and likely have not been for >20,000 years, degassing significant water and chloride despite the high water and chloride contents of the magmas. By inference, the intermediate to silicic magmas at depth have not transferred large amounts of volatiles to the geothermal systems over this period, and rather are storing them in the magmatic bodies to be released in volcanic eruptions that are commonly explosive and pyroclastic in nature and highly hazardous.

Evaluation of fetal cardiac anomalies and their outcomes in isolated cardiac anomalies and non-isolated groups and based on minor and major abnormalities

Background: This study was aimed to evaluate the characteristics and outcomes of isolated CHD and non isolated CHD and also compare with major and minor cardiac anomalies.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome-wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human phenotype ontology terms used in genomic analysis were aggregated and analyzed. Clinicians were surveyed regarding changes in management and other care changes. Fifteen infants met inclusion criteria. KS was not suspected prior to genomic sequencing. Variants were classified as Pathogenic (n=10) or Likely Pathogenic (n=5) by American College of Medical Genetics and Genomics Guidelines. Fourteen variants were de novo (KMT2D, n=12, KDM6A, n=2). One infant inherited a likely pathogenic variant in KMT2D from an affected father. Frequent findings involved cardiovascular (14/15) and renal (7/15) systems, with palatal defects also identified (6/15). Three infants had non-immune hydrops. No minor anomalies were universally documented; ear anomalies, micrognathia, redundant nuchal skin, and hypoplastic nails were common. Changes in management were reported in 14 infants. Early use of unbiased genome-wide sequencing enabled a molecular diagnosis prior to clinical recognition including infants with atypical or rarely reported features of KS while also expanding the phenotypic spectrum of this rare disorder.

Mental Disorders in Children with Nonspecific Connective Tissue Dysplasia

Background: mental disorders in children, accompanied by a whole range of disorders, are not uncommon in the clinical practice of a child psychiatrist. The aim was to describe the clinical features of mental disorders in early and preschool age that occur against the background of connective tissue diathesis, using a specific clinical example. Patients and methods: clinical observations of children at risk for the development of mental pathology, including autism spectrum disorders, anxiety-depressive disorders, hyperactivity syndrome. Results: the article presents a brief review of literature data on certain differentiated syndromes of connective tissue dysplasia (CTD), in the clinical symptoms in addition to phenotypic signs and minor developmental anomalies, there are mental disorders. A clinical illustration of the combination of CTD syndrome and clinical manifestations of psychopathological disorders in a 5-year-old girl with development of the type of “schizotypal diathesis”, having various connective tissue anomalies, is given. Conclusion: the study of connective tissue diathesis in the structure of premorbid risk factors for mental diseases, including endogenous diseases, will clarify the nature of these conditions, expand our understanding of possible ways of prevention and therapy.

НАРУШЕНИЯ РИТМА И ПРОВОДИМОСТИ У ПАЦИЕНТОВ С ЭЛЕКТРОКАРДИОГРАФИЧЕСКИМ ФЕНОМЕНОМ РАННЕЙ РЕПОЛЯРИЗАЦИИ ЖЕЛУДОЧКОВ

The frequency and nature of cardiac arrhythmias and conduction disturbances in children and adolescents with electrocardiographic syndrome of early ventricular repolarization were studied. It has been determined that cardiac rhythm and conduction disturbances in patients with early ventricular repolarization syndrome are quite common, with a predominance of arrhythmias caused by a change in the automatism function of the sinus node and the presence of intraventricular blockades. It was revealed that in children with this electrocardiographic phenomenon, in the vast majority of cases, there are manifestations of the syndrome of connective tissue dysplasia - minor anomalies in the development of the heart – 84.1%, (p &lt; 0.001), and additional chords are most often recorded in the cavity of the left ventricle – 85.6% (p &lt; 0.001), both isolated and in combination with other anomalies and congenital heart defects. It was found that cardiac rhythm and conduction disturbances in patients with electrocardiographic syndrome of early ventricular repolarization are quite common (78.6±1.84%), with a predominance of cases of arrhythmias caused by changes in the automatism function of the sinus node (p &lt; 0.001) and the presence of intraventricular blocks. In children and adolescents with early ventricular repolarization, additional chords are most often recorded (85.6%, (p &lt; 0.001)), both isolated and in combination with other heart anomalies. The data obtained indicate the presence of a relationship between the early ventricular repolarization syndrome and connective tissue dysplasia, which makes it possible to attribute this electrocardiographic syndrome to the conditions associated with this syndrome.

Клинико-функциональное состояние сердечно-сосудистой системы у мужчин призывного возраста

Aim. To assess the clinical and functional status of the cardiovascular system in military aged men in Berdsk (Novosibirsk Region). Design. Observational analytical cohort study. Materials and methods. We observed 184 young men (18–27 years old) who were referred by medical examining boards of the recruitment offices to the Berdsk Central City Hospital. The study analysed the incidence of minor heart anomalies, various rhythm and conductivity disorders, and cardiovascular risk factors. We measured mean systolic blood pressure (SBP) and diastolic blood pressure (DBP) upon admission and following 24-hour monitoring, with the evaluation of the outpatient antihypertensive therapy. Echocardiography, Holter monitoring, electrocardiography were performed as well. Results. The risk factor assessment demonstrated smoking in 92 (50%) subjects, low physical activity — in 112 (60.9%) subjects, poor daily regimen and diet — in 130 (70.6%) subjects, not enough sleep — in 40 (21.7%) subjects, hereditary arterial hypertension — in 80 (43.5%) subjects. 141 (76.6%) persons had subjective symptoms. 103 (56%) conscripts had minor heart anomalies: mitral valve prolapse — 45 (24.5%) subjects, supplemental chord of the left ventricle — 49 (26.6%) subjects, while a combination of these heart anomalies was observed in 40 (21.7%) subjects. Besides, 9 (4.9 %) subjects had a functional foramen oval. Mean systolic BP upon admission was 162.0 ± mm Hg, diastolic BP — 91.2 ± mm Hg. 24-hour BP monitoring demonstrated daily mean SBP of 156 mm Hg, DBP — 86 mm Hg. Grade I AH was diagnosed in 80 (43.5%) conscripts, grade II AH — in 56 (30.4%), grade III AH — in 3 (1.6%). Antihypertensive therapy was prescribed to 65 (35.3%) young men, while symptomatic treatment — to 30 (16.3%) young men. Conclusion. Military aged men demonstrated high incidence of arterial hypertension in some risk factors, mostly genetic predisposition, sleep disorders, poor labour and rest regimen, physical inactivity. Minor heart anomalies are not uncommon. This population needs comprehensive modifiable risk factor programs, including body weight correction, smoking cessation, lipid-lowering diet, and increased physical activity. Keywords: arterial hypertension, cardiovascular diseases, smoking, young age, military age, risk factors.

Congenital Craniofacial Anomalies amongst Neonates at Major Government Hospital in Bengaluru: A Cross-Sectional Study

Introduction: Craniofacial anomalies (CFAs) are a manifold group of malformations in the growth of the head and face. Congenital anomalies are the major cause for pregnancy termination, infant mortality as well as childhood morbidity. The occurrence of congenital CFAs in the Indian population remains unlashed. Objectives: The objective of the study is to assess the frequency of incidence and types of CFAs and also their association with maternal risk factors. Materials and Methods: A cross-sectional survey was conducted on the mothers/babies delivered for 60 days at Vanivilas Hospital, Bengaluru. The anomalies were broadly classified as major and minor, further by structure as cranial, oral, nasal, auricular, and ocular. Data were analyzed to determine the association of these anomalies with mother’s age, gestational age, gender, and weight of the baby. Results: Out of 2251 deliveries, 158 were dead of which 12 (7.6%) had major CFAs. About 0.8% of major anomalies and 3.0% of minor anomalies occurred. The most common major craniofacial anomaly observed was anencephaly. In minor anomalies, anomalies of the oral cavity included gingival cyst, tongue-tie, epulis, and natal teeth. Mothers with age &gt;35 years and gestational age &lt;37 weeks had higher risk for major CFAs. Conclusions: This study provides baseline information for future prevention and better management of patients likely to have babies with congenital major and minor CFAs.

МАЛЫЕ АНОМАЛИИ СЕРДЦА У ДЕТЕЙ: ОСОБЕННОСТИ ДИАГНОСТИКИ, ЛЕЧЕНИЯ И НАБЛЮДЕНИЯ

Dysplastic lesion of the connective tissue accounts for 5 % of all systemic dis-eases. It is caused by a genetic breakdown, therefore, it requires monitoring and treatment throughout life. One of the manifestations of dysplasia on the part of the heart and large vessels is the presence of small anomalies. Such anomalies are mild forms of pathology, they are not hemodynamically significant and are not fatal, but require constant maintenance therapy. There is no specific prevention of connective tissue dysplasia and minor heart anomalies. Leading is a healthy lifestyle. Modern drugs and medical procedures allow maintaining the quality of life of patients at a high level.

Research on the evaluation method of steam power system operation status based on the theory of deterioration degree and health value.

The evaluation of the steam power system is very important for the operator to understand the operating status of the system, but the lack of consideration of the fuzziness of the complex system and the impact of the indicator parameters on the whole system makes the evaluation difficult. In this paper, an indicator system for evaluating the operation status of the experimental supercharged boiler is established. After discussing several methods of parameter standardization and weight correction, a comprehensive evaluation method based on the deterioration degree and health value is proposed while considering the deviation of the indicator and the fuzziness of the system. The comprehensive evaluation method, the linear weighting method and the fuzzy comprehensive evaluation method are respectively used to evaluate the experimental supercharged boiler. The comparison of the three methods shows that the comprehensive evaluation method is more sensitive to minor anomalies and faults and can draw quantitative health assessment conclusions.