Congenital Abnormalities In Children Research Articles

Safety of Vedolizumab and Ustekinumab Compared With Anti-TNF in Pregnant Women With Inflammatory Bowel Disease

Background and aimsLimited data are available on the consequences of prenatal exposure to vedolizumab and ustekinumab. We aimed to compare the safety of vedolizumab and ustekinumab with that of anti-TNF, in pregnant women with inflammatory bowel diseases (IBD). MethodsUsing nationwide, comprehensive data of the EPI-MERES registry, we identified pregnancies in women with IBD in France, exposed to anti-TNF, vedolizumab, and ustekinumab between 2014 and 2021. We compared pregnancy outcomes and complications in the offspring according to treatment exposure during pregnancy. We applied a propensity score matching for maternal, IBD, and pregnancy characteristics. Results398 pregnancies exposed to vedolizumab were compared to 1,592 pregnancies exposed to anti-TNF; 464 pregnancies exposed to ustekinumab were compared to 1,856 pregnancies exposed to anti-TNF. Overall, compared to anti-TNF, neither vedolizumab nor ustekinumab were associated with increased risks of abortion, caesarean section, stillbirth, preterm birth, serious infections, malignancies, or congenital abnormality in children. Women exposed to ustekinumab had an increased risk of small for gestational age births. ConclusionsOverall, the safety of vedolizumab and ustekinumab compared to anti-TNF use during pregnancy is reassuring. Further studies are needed to confirm these findings.

A Case Report : Patent Foramen Ovale Closure in Young Male Patient with Recurrent Cryptogenic Stroke

Patent foramen ovale is one of the most common congenital abnormalities in children. In PFO, there is a valve-like opening between the atrial septum secundum and primum at the fossa ovalis of the heart. A cryptogenic stroke is a stroke for which no clear cause can be identified. In some cases, the PFO can be wide open, allowing paradoxical embolism to pass from the vein into the arterial circulation, that cause cryptogenic stroke. The prevalence of PFO associated with cryptogenic stroke are relatively high, especially in young age. The thorough evaluation was needed to assure the causative relationship between the PFO and stroke or just a merely coincident, which can help to decide the best treatment strategy. Many studies recommend the closure of PFO in patient with cryptogenic stroke to prevent recurrent incident of stroke. This case report transcatheter PFO closure in a young male patient with history of recurrent stroke after serial examination to evaluate the likelihood of PFO as the cause of his stroke.

EDUCATIONAL PROGRAMM TO IMPROVE COPING MECHANISMS OF PARENTS WITH CHILDREN WITH CONGENITAL HEART DISORDERS

Congenital heart disease (CHD) is one of the most common congenital abnormalities in children with a chronic course of disease. CHD almost always causes problem psychologically either for patients and their families. Education about CHD in children addressed to their parents and caregivers could help to overcome the emotional problems that arise while caring for children with CHD. This study was at a time to review the educational programm that can be used to improve the parental coping mechanism of children with CHD. This study is a literature review sourced from PubMed, Google Scholar andScience Directdatabases, with inclusion criteria as follows: articles published in 2015-2020, available in full text and published in Indonesian and English. Our results found 169 articles, of them only 3 that met the inclusion criteria. Implementation of empowerment-based education program was proved to improve the knowledge, parenting behavior, and self-efficacy of parents and caregivers of children with CHD. Education with audiovisual media such as photos related to diagnostic procedures could be an important first step. The level of parental anxiety was lower in the intervention group than the control group (M=63, SD=3.5 vs M=70, SD=2.8). Module-based and workshop-based intervention programs such as the Congenital Heart Disease Intervention Program (CHIP)-Family intervention or education with evidence-based Families coping programs have been shown to improve mental health and coping mechanisms for parents of children with CHD. Nursing education using various media has been proven to improve the coping mechanisms of parents of children with CHD
 Keywords: Education; Media; Parents; Family; Coping Mechanisms; CHD

Association of maternal age and presence of non-communicable diseases in consanguineous marriage with congenital abnormalities in infants

Consanguineous marriages are most common among communities where most families are of traditional and extended types. It has been seen that females who conceive at a very young age or have any non-communicable disease have higher chances to have off springs with congenital abnormalities. Objective: To find out the association between maternal age and non-communicable diseases with congenital abnormalities in children. Methods: It is a cross-sectional study performed at District Head Quarter Hospital, Okara, including 100 married participants in the age range of 19-55 years after obtaining their informed consent Results: It was observed that 57% of mothers were below 20 at marriage, 42% were above 20 at marriage and 1% of mothers were above 30 at marriage, were having children with congenital abnormalities. 22 out of 100 mothers had obesity, 15 had diabetes and 21 had CVD when pregnant. The infants born to these mothers suffered from brain anomalies, cleft lip and cleft palate, CVD and diabetes. The results were obtained with p less than 0.05. Conclusion: Congenital abnormalities were more common among children with mothers aged below 20 or 25 and suffering from any metabolic or genetic disorder.

Glycemic Control in Pregnancies Complicated by Pre-Existing Diabetes Mellitus and Congenital Malformations: A Danish Population-Based Study.

PurposeTo study the occurrence of major congenital abnormalities in children of women with type 1 and type 2 diabetes and investigate the association between glycated haemoglobin (HbA1c) and major congenital malformations according to type 1 diabetes and type 2 diabetes separately.Patients and methodsIn this register-based study, all singletons born alive from January 1, 2000 to December 31, 2015 in the North Denmark and Central Denmark regions of Denmark and their mothers were included. We used data from Danish health registers and the LABKA database. Logistic regression models were used to compute crude and adjusted prevalence odds ratios (cORs and aORs) with 95% confidence intervals (CIs) for major congenital malformations overall and for subtypes, by type of maternal pre-existing diabetes and HbA1c levels.ResultsAmong 314,245 infants included, 2020 (0.64%) had mothers with type 1 diabetes and 498 (0.16%) had mothers with type 2 diabetes. We found an aOR of 2.9 (95% CI: 2.5, 3.5) and 1.9 (95% CI: 1.3; 2.8) for major malformations for type 1 and type 2 diabetes, respectively. The highest occurrence was seen for major congenital heart diseases, but we also observed higher occurrence of several other non-cardiac malformations. For both type 1 and type 2 diabetes, the prevalence of major congenital malformations increased with higher levels of maternal HbA1c with no safe threshold level. Mothers with type 1 diabetes had higher risks than those without diabetes irrespective of HbA1c, and women with HbA1c levels ≥9.5% had 8 times the odds of major congenital malformations [aOR 8.7 (95% CI: 5.4; 14.5)].ConclusionsThe prevalence of major congenital malformations progressively increased with poorer glycemic control during pregnancy, with no obvious safe threshold level, for both type 1 and type 2 diabetes.

Ovarian inguinal hernia.

Indirect inguinal hernia is a common congenital abnormality in children. In female infants, herniation of the ovaries, fallopian tubes and uterus has been reported. Herniation of the ovaries is a rare congenital condition that may be complicated by strangulation, torsion, and infertility. A 6-week-old female infant presented with visible swelling in the right inguinal region. This case highlights the utility of ultrasonography as a cheap and easily available imaging technique that can be used for the characterization of the hernial contents, and guide the management, further accentuated by the use of color Doppler imaging, of this subtle but crucial entity.

Faktor-Faktor Yang Berhubungan Dengan Kelainan Kongenital Pada Anak di RSPAD Gatot Soebroto

There are several methods for detecting congenital abnormalities, the most popular method at present is 3-dimensional ultrasound, MRI. The purpose of this study was to determine the factors associated with congenital abnormalities in children at Gatot Soebroto Central Jakarta Hospital in 2013. The design of this study was quantitative with a cross sectional approach. Population in the study were all children who had been treated in the Gatot Soebroto Children's Hospital recorded in the medical record for the period of January- December 2013 there were 707 children with 264 children with congenital abnormalities and 443 children without congenital abnormalities, the number of samples taken was 100 children using systematic random sampling. Data were analyzed by univariate, bivariate and multivariate analysis. The results were obtained as many as 57 (57%) who did not experience congenital abnormalities and 43 (43%) had congenital abnormalities. There is a relationship between education and congenital disorders. After multivariate analysis, the dominant variable is the labor variable associated with congenital abnormalities in children with p =0.039 and OR = 3.705 (95% CI: 1.067-12.870), while the variables of education, maternal age, gestational age, occupation, parity, income, LBW is a confounding variable. More complete information about the importance of knowing congenital abnormalities in children can be detected early and can be avoided if the mother consumes nutritious food, does not smoke, does not take medicine without the knowledge of the doctor, vaccination.
 
 Keywords: Congenital Disorders, Children

Consanguinity and congenital heart disease in offspring

Background Congenital heart disease (CHD) is a common congenital abnormality in children. Consanguineous marriage has been identified as a risk factor of CHD. There was an autosomal recessive pattern of inheritance seen in children with some forms of congenital heart disease.Objective To assess the possible association between consanguineous marriage and congenital heart disease incidence in the offspring.Methods A case-control study was conducted from March to May 2016 on pediatric patients at H. Adam Malik General Hospital, Medan. Subjects were allocated into two groups, 100 children with CHD in the case group, and the rest in the control group. Data were analyzed using Chi-square and logistic regression tests. In the present study, P value less than 0.05 was considered statistically significant.Results In the case group, 14 patients (14%) were born of consanguineous marriages. In the control group, only 5 patients (5%) were born of consanguineous marriages. There was a significant association between consanguineous marriage and CHD (OR 1.551; 95%CI 1.138 to 2.113). Based on the result of multivariate analysis, consanguineous marriage was a risk factor for CHD in offspring (Wald=4.525; P=0.033).Conclusion Consanguineous marriage is a risk factor for CHD in offspring.

Mixed "Antiandrogenic" Chemicals at Low Individual Doses Produce Reproductive Tract Malformations in the Male Rat.

Biomonitoring efforts have clearly shown that all humans are exposed to chemical mixtures. Of concern is whether or not exposure to mixtures during pregnancy contributes to congenital abnormalities in children even when each chemical is at an individual dose that does not affect the fetus. Here, we hypothesized that in utero exposure to a mixture of chemicals covering multiple "antiandrogenic" mechanisms of action at doses that individually have no adverse effect would result in permanent reproductive tract alterations in the male rat after birth. Pregnant dams were exposed to a range of dilutions (100%, 50%, 25%, 12.5%, 6.25%, or vehicle control) of a mixture containing pesticides, phthalates, and drugs (p, p'-DDE, linuron, prochloraz, procymidone, pyrifluquinazon, vinclozolin, finasteride, flutamide, simvastatin, and 9 phthalates [dipentyl, dicyclohexyl, di-2-ethylhexyl, dibutyl, benzyl butyl, diisobutyl, diisoheptyl, dihexyl, and diheptyl]). The top dose contained each chemical at 20% of its lowest observed adverse effect level (LOAEL) for the most sensitive male reproductive alteration following in utero exposure. We found that male rat offspring displayed a variety of neonatal, pubertal, and permanent adult effects across all dose levels. Even at the lowest dose (each chemical approximately 80-fold below lowest observed adverse effect level) there were permanent reductions in several reproductive tract tissue weights. In the top dose group, 100% of male offspring displayed permanent severe birth defects including genital malformations. Despite acting via 5 different molecular initiating events, a mixture of 18 chemicals can combine to produce additive effects even when each compound is at is at a relatively low dose.

THE QUALITY OF LIFE OF TODDLER POST COLOSTOMY IN BANDUNG

Congenital abnormalities in children are still quite high in Indonesia such as hirschsprung disease and anorectal malformations which require the fabrication of colostomy as bowel decompression and faecal expenditure alternatives. Stoma fabrication can have a physical or psychosocial impact on a child's life. This study aimed to determine the perception of parents on the quality of life in toddler-aged children with post colostomy. The method of this research was quantitative descriptive with 35 respondents obtained by consecutive sampling technique. The participants involved in this study were the parents of toddler-aged children who had experienced colostomy surgery. The data were collected using a Pediatric Quality of Life Inventory (Peds QL) questionnaire. The data were analyzed with descriptive statistics. The results showed that 19 people (54.28%) of toddler-aged children who had experienced colostomy surgery had poor quality of life with the lowest score on cognitive function. The conclusions of this study indicated that most of parents perceived the quality of life of toddler-aged children who had experinced colostomy surgery in the bad category. The poor quality of life can affect the child growth. One of the efforts to improve the quality of life of children is by providing psychological therapy to help children deal with negative emotions and providing psychoeducation to parents about the importance of providing stimulus in toddler-aged childern so that children can have a better quality of life.

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children

Multidisciplinary Management of Breast Cancer During Pregnancy.

Although breast cancer during pregnancy (BCDP) is rare (occurring with only 0.4% of all BC diagnoses in female patients aged 16-49 years), management decisions are challenging to both the patient and the multidisciplinary team. Experts in breast cancer at the University of North Carolina conducted a targeted literature search regarding the multidisciplinary treatment approaches to BCDP: medical, surgical, and radiation oncology. Supportive care, including antiemetic agents, and imaging approaches were also reviewed. Review of the literature revealed key points in the management of BCDP. Surgical management is similar to that in nonpregnant patients; pregnant patients may safely undergo breast-conserving surgery. Recommendations should be tailored to the individual according to the clinical stage, tumor biology, genetic status, gestational age, and personal preferences. Anthracycline-based chemotherapy can be safely initiated only in the second and third trimesters. The rate of congenital abnormalities in children exposed to chemotherapy is similar to the national average (approximately 3%). Dosing of chemotherapy should be similar to that in the nonpregnant patient (i.e., actual body surface area). Antihuman epidermal growth factor receptor 2 therapy, radiation, and endocrine treatment are contraindicated in pregnancy and lactation. Care should include partnership with obstetricians. The literature regarding prognosis of BCDP is mixed. To maximize benefit and minimize risk to the mother and fetus, an informed discussion with the patient and her medical team should result in an individualized treatment plan, taking into account the timing of the pregnancy and the stage and subtype of the breast cancer. Because BCDP is rare, it is essential to collect patient data in international registries. The Oncologist 2017;22:324-334 IMPLICATIONS FOR PRACTICE: Breast cancer during pregnancy is a major ethical and professional challenge for both the patient and the multidisciplinary treatment team. Although the oncologic care is based on that of the non-pregnant breast cancer patient, there are many challenges from regarding the medical, surgical and radiation oncology and obstetrical aspects of care that need to be considered to deliver the safest and best treatment plan to both the mother and developing fetus.

Congenital anomalies in Primorsky region.

Congenital anomalies in Primorsky region.

A female infant with an inguinal hernia containing the uterus and bilateral ovaries

Indirect inguinal hernia is one of the most common congenital abnormality in children. In approximately 15–20% of female patients, the hernia sac contains an ipsilateral ovary, but a few cases have been reported in which the uterus and both ovaries are within the hernia sac. Ultrasonography is a very effective tool to detect prolapsed organs in inguinal hernia; however, detection may be difficult in infants. The present study describes a rare case of inguinal hernia containing the uterus and both ovaries. The hernia was sliding hernia and Bevan's technique was adopted for radical herniorrhaphy. The clinical features of the disease are discussed. • In indirect inguinal hernia the hernia sac containing the uterus and both ovaries is quite rare. • Ultrasonography is a very useful tool to detect the prolapsed organs. • If the reproductive organs prolapsed as incarcerated hernia emergency operation is recommended. • Bevan's technique for radical herniorrhaphy is recommended if the sliding hernia exists.

Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran.

Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of these disorders through application of molecular methods. This cross-sectional and explanatory study was carried out on a study population of 65 affected children, 130 respective parents and 50 healthy individuals between 2009 and 2012 at Tabriz University of Medical Sciences, IR Iran. After DNA extraction, amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism (RFLP)-PCR were used respectively to investigate the C677T and A1298C mutations for the MTHFR gene. There was a significant difference in the rates of the C677T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=0.44) (OR=0.64). However, there was no significant difference observed in the rate of this mutation between the patients' mothers and the control group (OR=1.35). In addition, the abnormality rate was higher in patients with the A1298C mutation and their parents, when compared with the control group. This abnormality rate was higher for the affected children and their fathers in comparison with their mothers (Fathers, OR=0.26; Mothers, OR=0.65; Children, OR=0.55). No significant difference was seen in the rate of the polymorphism C677T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A1298C mutation. An association was seen between the A1298C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship between the C67TT mutation and these abnormalities in other countries, which could be explained by racial differences. Moreover, this association was more notable between the affected children and their fathers than their mothers. The findings in this study may be helpful in future studies and screening programs.

A Surgical Technique for Congenital Preauricular Sinus.

BackgroundPreauricular sinuses represent a common congenital abnormality in children. Classically, a preauricular sinus manifests as a small opening, usually near the anterior limb of ascending helix. The difficulty in the surgical treatment of preauricular sinus is the high recurrence rate. The aim of this article is to review the outcomes of preauricular sinus and to introduce our surgical technique and its prognosis.MethodsA single-institutional retrospective review was performed for all patients who had undergone excision of congenital periauricular sinus between October 2007 and April 2014. Medical records were reviewed for demographic information, wound complication, and recurrence rate. The sinus tract was visualized with the aid of preoperative dye instillation and intraoperative probe insertion. The skin next to the sinus opening was incised elliptically, and the tract itself was dissected medially to the end of the sinus tract and posteriorly to the cartilage of the ascending helix.ResultsThe review identified 44 patients for a total of 57 preauricular sinus tracts. The mean age at time of operation was 16.3 years with a range from 9 months to 65 years. Unilateral preauricular sinus tract was present in 31 patients (11 right and 20 left preauricular tract), and 13 patients had bilateral sinus tract. None of the patients had experienced wound issues postoperative, and there were no recurrent sinus tract formation or infection.ConclusionUsing a combination of dye instillation, probe insertion, and modified dissection, we were able to achieve a recurrence free series of preauricular sinus tract excision among a heterogenous group of patients. A large patient series is necessary to replicate the results of this study.

BMP-7 Signaling and its Critical Roles in Kidney Development, the Responses to Renal Injury, and Chronic Kidney Disease.

Chronic kidney disease (CKD) is a significant health problem that most commonly results from congenital abnormalities in children and chronic renal injury in adults. The therapeutic potential of BMP-7 was first recognized nearly two decades ago with studies demonstrating its requirement for kidney development and ability to inhibit the pathogenesis of renal injury in models of CKD. Since this time, our understanding of CKD has advanced considerably and treatment strategies have evolved with the identification of many additional signaling pathways, cell types, and pathologic processes that contribute to disease progression. The purpose of this review is to revisit the seminal studies that initially established the importance of BMP-7, highlight recent advances in BMP-7 research, and then integrate this knowledge with current research paradigms. We will provide an overview of the evolutionarily conserved roles of BMP proteins and the features that allow BMP signaling pathways to function as critical signaling nodes for controlling biological processes, including those related to CKD. We will discuss the multifaceted functions of BMP-7 during kidney development and the potential for alterations in BMP-7 signaling to result in congenital abnormalities and pediatric kidney disease. We will summarize the renal protective effects of recombinant BMP-7 in experimental models of CKD and then propose a model to describe the potential physiological role of endogenous BMP-7 in the innate repair mechanisms of the kidneys that respond to renal injury. Finally, we will highlight emerging clinical approaches for applying our knowledge of BMP-7 toward improving the treatment of patients with CKD.

Prospective identification and culture of rat enteric neural stem cells (ENSCs).

Hirschprung's disease (HD), a very common congenital abnormality in children, occurs mainly due to the congenital developmental defect of the enteric nervous system. The absence of enteric ganglia from the distal gut due to deletion in gut colonization by neural crest progenitor cells may lead to HD. The capacity to identify and isolate the enteric neuronal precursor cells from developing and mature tissues would enable the development of cell replacement therapies for HD. However, a mature method to culture these cells is a challenge. The present study aimed to propose a method to culture enteric neural stem cells (ENSCs) from the DsRed transgenic fetal rat gut. The culture medium used contained 15% chicken embryo extract, basic fibroblast growth factor, and epidermal growth factor. ENSCs were cultured from embryonic day 18 in DsRed transgenic rat. Under inverted microscope and fluorescence staining, ENSCs proliferated to form small cell clusters on the second day of culture. The neurospheres-like structure were suspended in the medium, and there were some filaments between the adherent cells from day 3 to day 6 of the culture. The neurospheres were formed by ENSCs on day 8 of the culture. Network-like connections were formed between the adherent cells and differentiated cells after adding 10% FBS. The differentiated cells were positive for neurofilament and glial fibrillary acidic protein antibodies. The present study established a method to isolate and culture ENSCs from E18 DsRed transgenic rats in the terminal stage of embryonic development. This study would offer a way to obtain plenty of cells for the future research on the transplantation of HD.

The longer-term health outcomes for children born as a result of IVF treatment: Part I–General health outcomes

BACKGROUND Several million children have been born from in vitro fertilization (IVF) treatment, but limited data exist regarding their health and development beyond the first year of life. It has been alleged that IVF may lead to long-term adverse consequences, in addition to the documented worse perinatal outcome and increased risk of congenital abnormalities in children born resulting from IVF treatment. METHODS A search strategy restricted to studies relating to the medical condition of children of at least 1 year of age born as a result of IVF treatment was performed to include case series, data linkage and prospective studies published 1 January 2000-1 April 2012. RESULTS Limited long-term follow-up data suggest that there is potentially an increase in the incidence of raised blood pressure, elevated fasting glucose, increase in total body fat composition, advancement of bone age and potentially subclinical thyroid disorder in the IVF offspring. Whether these potential associations are related to the IVF treatment per se, the adverse obstetric outcomes associated with IVF treatment or are related to the genetic origin of the children is yet to be determined. CONCLUSIONS This review provides evidence to suggest that the short-term health outcome for children born from IVF treatment is positive. However, it is expected that the cardiovascular and metabolic risk factors found in childhood and tracking into adulthood could be worse in later life, and may be responsible for chronic cardiometabolic disease. These observations need to be addressed by further studies.

Has the Prevalence of Congenital Abnormalities after Intracytoplasmic Sperm Injection Increased? The Leuven Data 1994–2000 and a Review of the Literature

Background: Although intracytoplasmic sperm injection (ICSI) is now accepted as the treatment of choice for severe male infertility, concerns about its safety and the potential risks for the offspring remain. We reviewed the literature with respect to the prevalence of major congenital malformations after the ICSI technique and supplemented these data with the results of a prospective follow-up study performed in our center. Methods: From January 1994 till June 2000, 776 ICSI cycles were carried out at the Leuven University Fertility Center. The resulting pregnancies (n = 172) were followed for biochemical and obstetrical parameters, prenatal diagnosis and congenital abnormalities. Results: A total of 134/172 (78%) ongoing pregnancies resulted in 132 deliveries of 166 live born children. Two terminations of pregnancy were carried out due to the presence of major congenital anomalies, diagnosed at prenatal ultrasound. Prenatal diagnosis was carried out in 55 fetuses. Two de novo chromosomal aberrations were found. Major congenital abnormalities were observed at birth in 9/150 (6.0%) children. The total malformation rate was 6.5%. Conclusions: The prevalence of congenital abnormalities in children born after ICSI in our center (6.5%) was comparable to the prevalence of congenital abnormalities after ICSI reported in the literature.