Congenital Anomalies In Children Research Articles

Rare Case of Annular Pancreas

One of the rare disorders noted during birth is Annular pancreas. In this disorder a slender band of pancreatic tissue engulfs the duodenum. This congenital anomaly in children produces symptoms like duodenal obstruction but mostly they produce symptoms in later stages of life. This is one of the rare clinical diagnosis. But once diagnosed immediate treatment can reduce the morbidity risk.

Avascular necrosis after surgery of developmental dysplasia of the hip in children after walking age: incidence and risk factors

Introduction Developmental dysplasia of the hip (DDH) is a common congenital anomaly in children. It includes a spectrum of anatomic abnormalities ranging from acetabular dysplasia to frank hip dislocation. Avascular necrosis (AVN) is one of the main complications associated with the treatment of DDH. It is a devastating problem that can lead to acetabular dysplasia and joint incongruity and cause premature osteoarthritis. The study aims to evaluate the incidence and risk factors of AVN after open reduction of developmental dislocation of the hip in children after walking age. Patients and methods Between the period of April 2014 and April 2019, a retrospective cohort evaluation of DDH cases was managed by surgery in the form of open reduction and pelvic osteotomy with or without femoral shortening. All grades of Tönnis classification were included. This study included 200 cases with an age range from 1 to 7 years, and the average age is 3.5 years at the time of last follow-up. The mean follow was 2.29 years, which ranged from 1 to 4 years. Plain radiography obtained in anteroposterior and frog lateral views after 1 year follow-up to diagnosis AVN as established in the literature. Results In this study, the mean time of intervention was 2.26 ± 0.97 years with an age range from 1 to 5 years. Twenty-six (13%) cases were managed only by open reduction and capsulorrhaphy, 174 (72.5%) cases had pelvic osteotomies, either Salter or Dega osteotomy, of whom 104 had femoral shortening and derotational osteotomy (59.77%). No AVN was reported in 159 (79.5%) cases, while AVN was evident in 41 (20.5%) cases. Discussion Incidence of AVN after open reduction depend on variable factor discussed in this study with total incidence of AVN 41 (20.5%) cases. This result is similar to other studies, with the incidence of AVN ranging from 15 to 30%. In the present study, the incidence of AVN increased 17 times in cases with postoperative immobilization in the hip spica more than or equal to 60° in the form of 21 cases showed AVN. Conclusion Postoperative hip immobilization in spica less than 60° as children with postoperative hip abduction more than or equal to 60° showed an increase incidence of AVN.

Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study

PurposeWe assessed the risk of congenital anomalies in children who have a sibling with cancer. MethodsWe performed a matched cohort study of children born between 2006 and 2022 in Quebec. The exposure was having a sibling with cancer. Exposed children were matched to unexposed children based on sex, number of siblings, birth order, and year. The outcome included heart defects, orofacial clefts, and other anomalies. Using conditional logistic regression, we estimated odds ratios (OR) and 95 % confidence intervals (CI) for the association between having a sibling with cancer and the likelihood of having a congenital anomaly. ResultsA total of 2403 children who had a sibling with cancer were matched to 240,257 unexposed children. Congenital anomalies were more frequent in children who had a sibling with cancer compared with unexposed children (10.3 % vs 8.9 %). Overall, having a sibling with cancer was only weakly associated with congenital anomalies (OR 1.18, 95 % CI 1.04–1.35). Exposed children tended to have greater odds of polydactyly/syndactyly (OR 1.89, 95 % CI 1.11–3.21) and urinary defects (OR 1.50, 95 % CI 1.09–2.08) compared with unexposed children. ConclusionsChildren who have a sibling with cancer have an only weakly elevated risk of congenital anomalies.

Risk for Congenital Anomalies in Children Conceived With Medically Assisted Fertility Treatment

(Abstracted from Ann Intern Med 2023;176:1308–1320) In the United States, more than 2% of all infants are conceived by assisted reproductive technology (ART). Children born from ART have been shown to have up to 50% increased risk for congenital anomalies (CAs) compared with naturally conceived children.

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the ‘Ages and Stages Questionnaire (ASQ)’ and ‘ASQ: Social–Emotional’

BackgroundThe purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers.AimThe objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development.MethodsOur study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social–Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files.ResultsThe study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age.ConclusionsIn children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.

Evaluation of Prevalence of Congenital Anomalies in Children and Infants Admitted to NICU and IPD of Bamyan Provincial Hospital in 2018- 2023

Evaluation of Prevalence of Congenital Anomalies in Children and Infants Admitted to NICU and IPD of Bamyan Provincial Hospital in 2018- 2023

#298 : Congenital Anomalies in Children Born after Assisted Reproduction in the Czech Republic

Background and Aims: The number of children conceived by assisted reproduction techniques (ART) is increasing in the Czech Republic. However, several studies reported an increased incidence of congenital anomalies in ART-conceived children. The main goal of this study was to evaluate this theoretical risk using population-based data from Czech medical registries. Method: The retrospective epidemiological analysis was performed using data from the National Registry of Congenital Anomalies and the National Registry of Newborns, run by the Institute of Health Information and Statistics of the Czech Republic. All diagnoses of congenital anomalies (Q00-Q99) were included. The registration process is population-wide and compulsory by Czech law. We compared the incidences of congenital anomalies in naturally conceived children and ART-conceived children born in the Czech Republic for 8 years period (2013–2020). Statistical analysis was performed by Fisher’s exact test. Results: In our study, we demonstrated a higher incidence of congenital anomalies in the children born after ART (4.35%) compared to the incidence in the group of children born after spontaneous conception (3.90%). This difference was statically significant (p &lt; 0.05). In the group of children born after ART, congenital defects of the central nervous system, congenital heart defects, and congenital defects of the gastrointestinal tract were diagnosed more frequently. In some groups of congenital defects, a higher proportion of males compared to females and a higher representation of cases with a congenital defect in children born from multiple pregnancies were also found. Conclusion: The results from our population-based study confirm that the incidence of selected groups of congenital anomalies may be higher in children born after ART.

Risk for Congenital Anomalies in Children Conceived With Medically Assisted Fertility Treatment : A Population-Based Cohort Study.

More than 2 million children are conceived annually using assisted reproductive technologies (ARTs), with a similar number conceived using ovulation induction and intrauterine insemination (OI/IUI). Previous studies suggest that ART-conceived children are at increased risk for congenital anomalies (CAs). However, the role of underlying infertility in this risk remains unclear, and ART clinical and laboratory practices have changed drastically over time, particularly there has been an increase in intracytoplasmic sperm injection (ICSI) and cryopreservation. To investigate the role of underlying infertility and fertility treatment on CA risks in the first 2 years of life. Propensity score-weighted population-based cohort study. New South Wales, Australia. 851 984 infants (828099 singletons and 23885 plural children) delivered between 2009 and 2017. Adjusted risk difference (aRD) in CAs of infants conceived through fertility treatment compared with 2 naturally conceived (NC) control groups-those with and without a parental history of infertility (NC-infertile and NC-fertile). The overall incidence of CAs was 459 per 10 000 singleton births and 757 per 10 000 plural births. Compared with NC-fertile singleton control infants (n= 747 018), ART-conceived singleton infants (n= 31256) had an elevated risk for major genitourinary abnormalities (aRD, 19.0 cases per 10 000 births [95% CI, 2.3 to 35.6]); the risk remained unchanged (aRD, 22 cases per 10 000 births [CI, 4.6 to 39.4]) when compared with NC-infertile singleton control infants (n= 36251) (that is, after accounting for parental infertility), indicating that ART remained an independent risk. After accounting for parental infertility, ICSI in couples without male infertility was associated with an increased risk for major genitourinary abnormalities (aRD, 47.8 cases per 10 000 singleton births [CI, 12.6 to 83.1]). There was some suggestion of increased risk for CAs after fresh embryo transfer, although estimates were imprecise and inconsistent. There were no increased risks for CAs among OI/IUI-conceived infants (n= 13574). This study measured the risk for CAs only in those children who were born at or after 20 weeks' gestation. Observational study design precludes causal inference. Many estimates were imprecise. Patients should be counseled on the small increased risk for genitourinary abnormalities after ART, particularly after ICSI, which should be avoided in couples without problems of male infertility. Australian National Health and Medical Research Council.

Neurodevelopmental assessment of children with congenital heart diseases using Trivandrum developmental screening chart.

Congenital heart diseases (CHDs) are one of the most important congenital anomalies in children which have high-risk for neurodevelopment delay. This study was conducted to determine the proportion of developmental delay in children with CHD and comparison of delay between acyanotic and cyanotic heart diseases in children. A cross-sectional study was conducted on children admitted in pediatric ward of rural hospital from 6 month to 6 years of age who are diagnosed with CHD by 2D ECHO and further classified into acyanotic congenital heart disease (ACHD) and cyanotic congenital heart disease (CCHD). Neurodevelopmental assessment was done using Trivandrum development screening chart (TDSC). Out of total 50 children in study population, 24 children had TDSC delay, distribution as 11 (22%) ACHD and 13 (26%) CCHD. Out of 24 children in the age group of 0-3 years, 13 (54.2%) were ACHD and 11 (45.8%) were CCHD. Out of 26 children in the age group of 3-6 years, 15 (57.7%) were ACHD and 11 (42.3%) were CCHD. Among different ACHD included in the study population (0-3 years) children with ventricular septal defect (VSD) were maximum (n = 5) next in the decreasing order was atrial septal defect (ASD) (n = 3). ACHD included in the study population (3-6 years) children with VSD was maximum (n = 6) next in the order was ASD (n = 4). Proportion of delay in children with ACHD was 22% as compared to 26% in children with CCHD. There is a high proportion of neurodevelopmental delay in children with CHD which can be detected using TDSC which is a simple screening tool and can be used by any health-care professional without training for the assessment of neurodevelopmental outcome in these children. Delay was more in children with CCHD than ACHD.

Frequency of Various Congenital Anomalies and Associated Maternal Risk Factors, an Experience at Tertiary Care Hospital

Objective: To determine frequency of congenital anomalies in children and associated risk factors of mothers. Setting: Department of obstetrics and gynecology Rai Medical College Sargodha. Study design: Descriptive observational study. Duration: July 2022 to December 2022. Methodology: All babies with congenital anomalies born within study duration and their mothers were included in this study. Anomalies of neonates were evaluated after proper clinical evaluation by a neonatologist. A questionnaire was designed to evaluate maternal risk factors. All collected data was analyzed using SPSS version 20. Results: Total 1900 babies delivered during this study period and out of them congenital anomalies were found in 31 (1.6%) cases. Most common anomaly was hydrocephalus in 10(32.2%) and meningomyelocele in 6(19.3%) cases. Most common maternal risk factor was consanguineous marriage in 15(48.3%) cases. Most commonly mothers with the age of 19-30 years were having babies with congenital anomalies. Practical Implication: This study helps us to understand the importance of avoiding consanguineous marriages, screening of high risk cases using various diagnostic techniques like ultrasonography during 16-20 weeks, use of folic acid supplements and in case of detecting congenital anomalies option of selective termination of pregnancy can be offered to the parents. Proper awareness of the parents and their counselling after birth of a baby with anomaly can prevent its recurrence in their future pregnancies Conclusion: Most common congenital anomaly reported in this study was hydrocapahlus followed by meningocele and most common maternal risk factor associated with these anomalies was consanguineous marriage. Keywords: Congenital anomaly, consanguineous marriage, Maternal risk factor, Neural tube defects

Challenges of having a child with congenital anomalies in Saudi Arabia: a qualitative exploration of mothers' experience.

Congenital anomalies in children lead to morbidity, mortality, or lifelong disabilities. Mothers of children with congenital anomalies face considerable obstacles in parenting their children because of their lack of knowledge about such health conditions, lack of family support, and lack of health, rehabilitation, and social care support. In Saudi Arabia, less attention are given to researching this important issue. In this context, the purpose of the study was to explore mothers' experiences and perceptions toward children with congenital anomalies. We employed a qualitative phenomenological study design. We purposively recruited 10 mothers of children with congenital anomalies from different cities in Saudi Arabia. We interviewed the mothers with an in-depth interview guideline. The interview questions were designed to explore their perception of congenital anomalies in children and their experience of parenting and seeking health, rehabilitation, education, and social care services for children with such anomalies. Analysis of our data suggest that mothers of children with congenital anomalies face considerable challenges because of a lack of medical, rehabilitation, and social care support, lack of knowledge about these conditions and their management, lack of responsiveness of the healthcare providers, lack of support from the family and the stigma associated with such conditions. Consequently, mothers experience poor mental and social well-being. Mothers are facing considerable challenges in raising children with congenital anomalies. Regular screening for early detection of congenital anomalies, counseling support for mothers, and improving healthcare providers' responsiveness, knowledge, and skills are necessary. In addition, appropriate awareness-raising programs need to be implemented at the community level to counteract the stigma and negative attitudes of the community toward children with congenital anomalies and their families.

Dynamics of the incidence of congenital malformations in children in Chelyabinsk based on the results of epidemiological monitoring in 2012–2017

Congenital malformations are not only a medical, but also a serious social problem, since this pathology is a leading cause of perinatal, neonatal, and infant morbidity, disability, and mortality.Purpose. To analyze the variation dynamics in the incidence of groups of congenital malformations, the structure of congenital malformations according to the average incidence, and the consistency of changes in the incidence of individual groups of congenital anomalies in children of Chelyabinsk based on the results of epidemiological monitoring in 2012–2017.Material and methods. To assess the frequencies of congenital malformations, we used the monitoring data of the Regional Medicaland Genetic Consultation Office in Chelyabinsk for the period from 2012 to 2017, for Down syndrome (T21) from 2012 to 2018. The total number of newborns over the six-year period was 102,308, of which 2101 children were registered with congenital malformations, including live-born, stillborn children, and fetuses with malformations identified through prenatal diagnostics. Clinical data on newborns was grouped into 11 congenital malformations categories based on the International Classification of Diseases. The statistical analysis of the monitoring results was carried out using methods of descriptive statistics, samples comparisons, correlation, and cluster analysis.Results. The incidence of all registered congenital malformations in newborns in Chelyabinsk was 20.7 per 1000 births (95% CI: 17.4–25.4) during the study period. In newborns of the Chelyabinsk city in 2012–2017, the prevalence of congenital malformations of the circulatory system (42.8%), chromosomal abnormalities (11.9%), and anomalies of the musculoskeletal system (10.3%) was observed. The relative frequency of Down syndrome for the period from 2012 to 2018 ranged from 1.51‰ to 2.42‰, considering both children born with this pathology and the data on prenatal diagnostics.Conclusion. The hierarchy of congenital malformations was reproduced from year to year with a predominance of circulatory anomalies, chromosomal anomalies, and musculoskeletal anomalies of the system. The overall incidence of all congenital malformations in Chelyabinsk in 2012–2017 does not exceed the average values for the Russian Federation, while the incidence of Down syndrome exceeded the average national level.

AN OBSERVATIONAL STUDY OF SPECTRUM OF CONGENITAL SPINAL DEFECTS IN CHILDREN ATTENDING PAEDIATRIC OUTPATIENT OF A TERTIARY CARE HOSPITAL IN SOUTHERN INDIA

Congenital anomalies in children are not infrequent and the birth defects of cardiovascular and digestive systems are the most common. Congenital spinal defects have prevalence and incidence of about 2.74% and 1-3 per 1000 live births respectively. The range of spinal defects may vary from a tuft of hair with an underlying spina bida to various types of spinal dysraphism. This observational study was undertaken to study the spectrum of neural tube defects among children attending the pediatric outpatient of a tertiary care hospital. Twenty-one children were included in the study. Fourteen infants were less than 1-year old and seven were between 2-7 years of age. Fourteen children had meningomyelocele (MMC). The commonest site was in the lumbosacral region. Seven patients of MMC had associated hydrocephalus, and seven had talipes deformity. Other accompanying defects included pes cavus, pectus carinatum, polydactyly and congenital heart defects, seen in one case each. Soft uctuant swelling over the spine, kyphoscoliosis, accid paralysis of lower extremities, and incontinence of urine were the cardinal symptoms. CT Scan and MRI in these children helped us to assess the quantum of decit involving the vertebra and spinal cord. This paper highlights the range of spinal abnormality seen in children with the similar clinical presentation, and therefore the need for neuroimaging in all cases with suspected neural tube defect (NTD) for proper management and prognostication.

Parental perceptions and experiences of an oral health care promotion intervention for children with congenital heart defects

ABSTRACT Purpose Congenital heart disease (CHD) is one of the most common congenital anomalies in children. Children with major CHD are at risk for developing endocarditis. Acute endocarditis may be life threatening and lead to heart failure. The purpose of this study was to explore parental perceptions and experiences of an early oral health promotion intervention (OHPI) targeting children with major CHD at risk for developing endocarditis later in life, and use this information to examine intervention feasibility. Methods Nine parents (three fathers and six mothers) participating in a one and a half year OHPI were purposefully selected for qualitative evaluation of intervention feasibility using semi-structured interviews. The interviews were analysed with an inductive content analysis method. Results The analysis resulted in four main categories and 14 subcategories that describe parental perceptions and experiences of the OHPI. The four main categories were timing of first intervention contact, effortlessness of intervention process, individuality of support, and relevancy of support. Conclusion Parents of children with CHD perceived the OHPI as important and feasible to be implemented in daily life in children with systemic diseases overall. Further studies on timing of first contact and use of additional Web-based support are needed.

Epigenetic Modifications, A New Approach to Male Infertility Etiology: A Review.

Recent studies have indicated that epigenetic alterations are critical for normal function and development of spermatozoa during the fertilization process. This review will focus on the latest advances in epigenome profiling of the chromatin modifications during sperm development, as well as the potential roles of epigenetic mechanisms in the context of male infertility. In this review, all data were collected from published studies that considered the effect of epigenetic abnormalities on human spermatogenesis, sperm parameters quality, fertilization process, embryo development and live births. The database PubMed was searched for all experimental and clinical studies using the Keywords “epigenetic modifications”, “male infertility”, “spermatogenesis”, “embryo development” and “reproductive function”. Post-translational modifications of histone, DNA methylations and chromatin remodeling are among the most common forms of epigenetic modifications that regulate all stages of spermatogenesis and fertilization process. Incorrect epigenetic modifications of certain genes involved in the spermatogenesis and sperm maturation may be a main reason of male reproductive disorder and infertility. Most importantly, abnormal patterns of epigenetic modifications or transgenerational phenotypes and miRNAs expression may be transmitted from one generation to the next through assisted reproductive techniques (ART) and cause an increased risk of birth defects, infertility and congenital anomalies in children. Epigenetic modifications must be considered as a one of the main factors of unexplained male infertility etiology. Due to high risk of transmitting incorrect primary imprints to offspring, there is a need for more research into epigenetic alterations in couples who benefit of ART support.

MEDIASTINAL ENTERIC CYST: AN UNCOMMON CAUSE OF RECURRENT LOWER RESPIRATORY TRACT INFECTIONS IN CHILDREN

Enteric cysts in posterior mediastinum are rare congenital anomalies in children. A wide range of clinical manifestations can be found ranging from absence of symptoms to life threatening respiratory distress. We report a child case who had recurrent lower respiratory tract infections due to mediastinal enteric cyst accompanied by vertebral defects. A 6-year-old girl presented to the Clinic with a history of cough, fever and left chest pain. She had recurrent episodes of lower respiratory tract infections in the past. On physical examination no breath sounds were heard over the left chest. Chest x-ray revealed a left upper lobe atelectasis. A chest computed tomography scan showed a cystic mass in the left posterior mediastinum associated with cervicothoracic vertebral malformations. Thoracotomy was performed and the cyst was excised. Histopathology report revealed the diagnosis of enteric cyst. The patient recovered well from the surgery and was free of respiratory symptoms after that. Although mediastinal enteric cysts are uncommon conditions, it is essential to be considered in the differential diagnosis of respiratory distress among children. Clinicians should always keep in mind that the presence of associated cervical or thoracic vertebral anomalies may represent an important early clue to the diagnosis. The tendency of mediastinal enteric cyst to enlarge and cause subsequent respiratory distress is sufficient reason for early operative treatment and should be undertaken before the complications occur. Key words: Enteric cyst, lower respiratory tract infections, thoracotomy, children.

A Genetic study in assisted reproduction and the risk of congenital anomalies

In vitro fertilization is one of the most common and effective procedure for thousands of couples worldwide who want to have a child and are unable to do so for various reasons. Diverse studies show that couples who conceive naturally after one year of trying had newborns with an increased risk of prematurity and low birth weight, compared with couples who conceived before completing one year of trying. Children from assisted reproduction (AR), have a 30% increased risk of prematurity and low birth weight, compared with children from infertile fathers. Regarding the conflicting results the present study aimed to record the frequency of genetic, congenital anomalies in children and adolescents who had examined in the last decade to the Clinical Genetics Clinic of the National and Kapodistrian University of Athens whose mothers had undergone assisted reproduction. The research process was conducted at the "Aghia Sofia" Children's Hospital based in Athens. However, the cases that were studied came from all over Greece. Initially, the researcher recorded the cases that came to the clinic of Clinical Genetics and whose conception occurred after technical assisted reproduction. After telephone communication and the consent of the parents, a live appointment was scheduled. In this meeting-interview all the provisions of the investigation and the protocol were asked and some elements of the medical history of the cases were confirmed. The total sample included 230 children and adolescents. The resulting data were recorded on a printed form/questionnaire. Then, they were registered electronically in the program SPSS 25.0 (Statistical Package for Social Sciences) with a specific unit code for each case/patient, followed by the processing and statistical analysis of the data as well as the recording of the results. The gender of the participants was male for 118 participants (51.3%) and 112 females (48.7%). Mean and standard deviation (SD) of maternal, paternal (at the time of delivery) age was equal to 36.38 (5.94) and 39.94 (6.58) respectively. The observed abdormalities were 35.53% psychomotor retardation, 23.68% facial abnormalities, 23.68% spinal cord abnormalities, 21.05% morphological abnormalities, 20.61% short stature, 19.74% developmental disorders, 19.30% heart disease, 16.67% neurological diseases, 14.47% genetic syndromes, 11.40% genital abnormalities, 8.33% limb abnormalities, 7.46% dermatological abnormalities, 6.14% eye abnormalities, 6.14% hypothyroidism, 5.70% endocrine disorders, 5.26%otolaryngology abnormalities, 2.63% disease of kidney, intestine, 2.19% vascular malformations. Regarding the karyotype chromosome analysis by G-banding technique, from the 230 children in: 24 (10.43%) a pathological result was found, in 158 children (68.70%) it was found normal (46, XX or 46, XY by case) without other findings, while in 48 children (20.87%) the test was not performed for various reasons. Regarding the results of molecular analysis (DNA) from the 230 children, in 50 (21.74%) a pathological finding was found, in 56 children (24.35%) no abnormalities were found and in 124 children (53.91%) no molecular analysis was performed for various reasons. In conclusion, the sample of this descriptive study is characterized as uniform in terms of the method of assisted reproduction since 96.24% had followed the classic IVF. Full-term pregnancy was associated with the appearance of malignancy and head morphological abnormalities (64.6%), normal pregnancy was associated with genetic syndromes (18.2%) and facial abnormalities (11.1%). It is recommended the screening oocyte and sperm donors in order to help protect the safety and health of donors, recipients, and future offspring. The present study confirms the association of the presence of congenital anomalies after in vitro fertilization (IVF). However, the absolute risk of developing severe dysplasias after an IVF procedure is limited.

THORACOSCOPIC EXCISION OF SYMPTOMATIC ESOPHAGEAL DUPLICATION CYST IN ADULT POPULATION-EXPERIENCE FROM A TERTIARY CARE CENTER

Gastrointestinal duplications are rare congenital anomalies in children. The most common site being jejunum and ileum, followed by mediastinum, colon, stomach, duodenum and rectum. Esophageal duplication cysts accounts for twenty percent. Majority of them are detected in childhood and treated. A very small percentage can present in adult population posing diagnostic challenges due to the clinical presentations. Minimal access surgery has obviated the need for thoracotomy. Herein we share our experience of treating four symptomatic esophageal duplication cysts in adults, by minimally invasive approach.

Оценка репродуктивной способности самцов крыс при остром токсоплазмозе

Toxoplasmosis is a parasitic disease of humans and animals caused by Toxoplasma gondii. Toxoplasma is an intracellular parasite that belongs to the simplest and has a complex development cycle. Infection with Toxoplasma is possible orally, transplacentally, percutaneously (if the integrity of the skin is damaged). This invasion is often the cause of problems with bearing pregnancy, as well as the development of congenital anomalies in children. The purpose of the study was to study the reproductive ability of male rats in acute toxoplasmosis. Materials and methods. The experiment was performed on 90 female and 45 male Wistar rats with a body weight of 180-200 g. The intact control males were orally injected with 2 ml of 0.2% starch gel. Experimental groups of males were infected with an invasive Toxoplasma gondii culture at a dose of 25 tachyzoites per 1 g of body weight (5000 tachyzoites per rat) and 50 tachyzoites per 1 g of body weight (10000 tachyzoites per rat). Then the males of all groups were coupled with the females for 3 days. The effect of toxoplasmas on the reproductive ability of male rats was assessed by the development of pregnancy and changes in the levels of pre- and post-implantation embryo death in female rats on the 7th, 14th, and 21st days after pregnancy. To account for changes in the pre- and post-implantation death of embryos in female rats after removal from the experiment, the uterus and ovaries were isolated, the uterine horns were opened, the number of implantation sites, the total number of embryos, the number of living and dead embryos, the number of resorption, and the number of yellow bodies in the ovaries were determined. Results and discussion. In the females of the 4th, 5th and 6th groups (coupling with males infected at the dose of 25 tachyzoites per 1 g of body weight), a decrease in the number of implantation sites in the uterus, the total number of embryos and the number of live embryos was recorded by 1.8-1.9 times compared to the control parameters. In female rats of the 7th, 8th and 9th groups (coupling with males infected at the dose of 50 tachyzoites per 1 g of body weight), there was a decrease in the number of implantation sites in the uterus, the total number of embryos and the number of live embryos by 5.6-6.8 times compared to the control. When compared to the results obtained from the females of the 4th, 5th and 6th groups, a decrease in these indicators was recorded by 3.1-3.5 times. Conclusion. Toxoplasma gondii has an effect on reproductive capacity in male rats expressed in changes of the levels of preimplantation mortality in female rats. The obtained effect depends on the dose of infection and the period of parasitosis development in males

708Incidence of congenital anomalies in children born after assisted reproduction in the Czech Republic

Abstract Background The number of children conceived by assisted reproduction techniques (ART) is increasing in the Czech Republic. However, several studies reported increased incidence of congenital anomalies in ART conceived children. The main goal of this study was to evaluate this theoretical risk using population-based data from Czech medial registries. Methods The retrospective epidemiological analysis was performed using data from the National Registry of Congenital Anomalies and National Registry of Newborns, run by the Institute of Health Information and Statistics of the Czech Republic. All diagnoses of congenital anomalies (Q00-Q99) were included. We compared the incidences of congenital anomalies in naturally conceived children and ART conceived children born in the Czech Republic during 5 years period (2013-2017). Statistical analysis was performed by Fisher's exact test. Results During the selected period there were 547 675 children born in the Czech Republic (531 064 were naturally conceived children and 16 611 were ART conceived children). The incidence of congenital anomalies was 3.90% in naturally conceived children group and 4.35% in ART conceived children. This difference is statistically significant (p = 0.003). Conclusions In our population-based study, we confirmed a significantly higher general incidence of congenital anomalies in ART conceived children. Key messages The general incidence of congenital anomalies in ART conceived children is higher (compared to the incidence of congenital anomalies in naturally conceived children). Possible causes of this phenomenon shall be further analysed.