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Academic literature on the topic 'Considered a birth defect'
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Journal articles on the topic "Considered a birth defect"
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Mafruchati, Maslichah, Mas’ud Harijadi, Widjiati Widjiati, and Boerhan Hidayat. "The Potency of ∆F 508-T Gen Mutant the Coding of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) As Prototype at the Congenital Bilateral Absence of Vas Deferens (CBAVD) Disease in Indonesia." KnE Life Sciences 3, no. 6 (2017): 139. http://dx.doi.org/10.18502/kls.v3i6.1123.
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Birth defect (congenital defect / congenital condition) is an anomaly appearing at birth and able to cause the physical or mental defect or death. Birth defect generally can be detected during the prenatal period. However, if this cannot be detected during the prenatal period, it can be identified at the post natal examination. Congenital Bilateral Absence Vas Difference (CBAVD) is of one the congenital defects characterized by Azoospermia causing the occurrence of infertility. This congenital defect can bring impact to the structural, functional and metabolism anomalies. Approximately 7.9 million children in the world (about 6% of the whole anomalies in the world) were born with serious congenital defects every year due to genetic anomaly or other post-conception. The determination of optimal output from PCR optimization to obtain the location of ∆F 508-T mutant on CBAVD patients in Indonesia is conducted pursuant to the gene target. The conclution were influence of various factors as the indicator specifying the mutation of ∆F 508-T mutant needs to be considered in making a decision for the preliminary research on CBAVD in Indonesia.
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Afroze, Sharmin, MA Mannan, Sanjoy Kumer Dey, et al. "Risk Factors and Complications of Newborns with Birth Defect: A Hospital based Case-Control Study." Bangladesh Journal of Medical Science 19, no. 1 (2019): 133–40. http://dx.doi.org/10.3329/bjms.v19i1.43886.
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Background: Birth defect is one of the most important causes of neonatal mortality worldwide. In a developing country like Bangladesh many possible factors for birth defects are present which should be identified. This study was performed to determine those risk factors of birth defect and complications associated with it.
 Materials and Methods: A hospital based matched case-control study was conducted from August 2015 to July 2016 in department of Neonatology along with Obstetrics and Gynecology at BSMMU. A total of 98 mother-infant pair (49 babies with birth defect as cases and 49 healthy babies without any birth defects as controls) was included in the study. For each case, a gestational age, sex and post-natal age matched control was taken. Data was collected by face to face interview. Univariate and multivariate conditional logistic regression models were computed to examine the effect of independent variables on outcome variable using SPSS 23.0. Variables with p-value <0.05 were considered statistically significant.
 Results: The mean (± SD) birth weight for cases and controls were 2718.37 (±756.9) grams, and 2617.14 (±978.8) grams respectively. Cardiovascular system was the predominant system (21%) involved in birth defects. Maternal age between 20-29 years (AOR: 4.69; 95% CI 1.078, 20.448), less than four antenatal care visits (AOR: 10.07; 95% CI 2.816, 36.0), no multivitamin intake (AOR: 7.38; 95% CI 1.791, 30.365) and presence of maternal diabetes (AOR: 0.194; 95% CI 0.047, 0.799) were significantly associated with birth defects among newborns. Sepsis, asphyxia, hypoglycemia and dyselectrolytemia were the most prevalent problems among these babies. The need of intravenous fluid, thermal care, antibiotics and mechanical ventilation was also high among the cases.
 Conclusion: Birth defect is an upcoming issue in current newborn health situation which need to be prioritized. Significant risk factors should be addressed timely for early diagnosis and proper management of these babies can help in reduction of mortality.
 Bangladesh Journal of Medical Science Vol.19(1) 2020 p.133-140
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Vukusic, Sandra, Patricia K. Coyle, Stephanie Jurgensen, et al. "Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience." Multiple Sclerosis Journal 26, no. 7 (2019): 829–36. http://dx.doi.org/10.1177/1352458519843055.
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Background: Teriflunomide is contraindicated in pregnancy. Some pregnancies have occurred despite guidance to use effective contraception. Objectives: To report outcomes of pregnancies occurring in teriflunomide clinical trials and the post-marketing setting. Methods: Outcomes are summarized for pregnancies in teriflunomide monotherapy clinical trials and the post-marketing setting (data cutoff: December 2017). Results: Of 437 confirmed teriflunomide-exposed pregnancies, 222 had known outcomes (70 from clinical trials; 152 from the post-marketing setting); 161 were reported prospectively and 61 retrospectively. There were 107 (48.2%) live births, 63 (28.4%) elective abortions, 47 (21.2%) spontaneous abortions, 3 (1.4%) ectopic pregnancies, 1 (0.5%) stillbirth, and 1 (0.5%) maternal death leading to fetal death. Four birth defects were reported among cases with known pregnancy outcome: ureteropyeloectasia (only defect considered major); congenital hydrocephalus; ventricular septal defect; and malformation of right foot valgus. A case of cystic hygroma was identified on antenatal ultrasound (pregnancy outcome unknown). One elective abortion followed prenatal diagnosis of fetal anomaly (blighted ovum). The risk of major birth defects in prospectively reported live birth/stillbirth outcomes was 3.6% (1/28) in clinical trials and 0.0% (0/51) in post-marketing reports. Conclusions: Outcomes were consistent with the general population. Current human data do not indicate a teratogenic signal in teriflunomide-exposed pregnancies.
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Prcic, Sonja, Aleksandra Matic, Sladjana Jablanovic, Milan Matic, Zorica Gajinov, and Natasa Stasuk. "Bullous aplasia cutis congenita: A report of two cases and brief review of the selected literature." Vojnosanitetski pregled 76, no. 3 (2019): 345–48. http://dx.doi.org/10.2298/vsp170201076p.
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Introduction. Aplasia cutis congenita (ACC) is a rare condition characterized by the focal absence of skin, and sometimes other underlying structures at birth. It may occur as an isolated defect or associated with other anomalies and defects. Bullous ACC (BACC) is a clinical subtype of the condition with few cases reported in the literature. It presents as a bullous lesion at birth which gradually transforms into an atrophic scar covered by a thin epithelial membrane. It is considered as cutaneous sign of possible neural tube dysraphism. Some cases present with a dark hair around the lesion (the hair collar sign), which can be even more indicative of neural tube defect. However, cases of BACC reported till today are inconclusive regarding this connection. Case report. We report a two cases of BACC of the scalp, in one patient associated with hair collar sign without neural tube defects and the other with hemangioma and we give a brief review of the selected literature. Conclusion. Bullous or membranous aplasia cutis congenita is benign condition, but may represent as a cutaneous marker of occult neural tube defect. Recognising the condition is important in order to rule out associated anomalies.
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Wang, Xike, Haitao Wei, Yue Wu, Ying Tian, and Lei Luo. "Thymidylate synthase gene variation is associated with the risk for conotruncal heart defects in Chinese population." Cardiology in the Young 29, no. 3 (2018): 280–85. http://dx.doi.org/10.1017/s1047951118002184.
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AbstractConotruncal heart defects are considered to be one of the most common types of birth defect worldwide. Genetic disturbances in folate metabolism such as Thymidylate synthase may increase risk for conotruncal heart defects. We evaluated two common Thymidylate synthase polymorphisms, including the 28 bp tandem repeat in the promoter enhancer region of the 5′-untranslated region and the 6 bp deletion in the 3′-untranslated region, as risk factors of conotruncal heart defects including various subtypes of malformations, in a total of 193 mothers with conotruncal heart defect in offspring and 234 healthy controls in the Chinese population. Logistic regression analyses revealed that mothers who were homozygotes with deletion (−/−) had a 1.8-fold (odds ratio: 1.8; 95% confidence interval: 1.0–3.0, p = 0.040) increased risk for conotruncal heart defect in offspring, respectively, when compared with mothers carrying the wild type (+/+) genotype. Consistently, individuals carrying the genotype −/− of the Thymidylate synthase 6 bp deletion also had higher plasma homocysteine levels compared to the mothers carrying the genotype +/+ in the control and conotruncal heart defect groups (p = 0.006 and p = 0.004, respectively). However, our results showed that Thymidylate synthase 28 bp tandem repeat polymorphism was not associated with risk for conotruncal heart defect and plasma homocysteine level. In conclusion, our data suggest that the maternal Thymidylate synthase 6 bp deletion polymorphism might be associated with plasma homocysteine level and risk for conotruncal heart defect in offspring.
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Heseker, Helmut B., Joel B. Mason, Jacob Selhub, Irwin H. Rosenberg, and Paul F. Jacques. "Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid." British Journal of Nutrition 102, no. 2 (2008): 173–80. http://dx.doi.org/10.1017/s0007114508149200.
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Some countries have introduced mandatory folic acid fortification, whereas others support periconceptional supplementation of women in childbearing age. Several European countries are considering whether to adopt a fortification policy. Projections of the possible beneficial effects of increased folic acid intake assume that the measure will result in a considerable reduction in neural-tube defects (NTD) in the target population. Therefore, the objective of the present study is to evaluate the beneficial effects of different levels of folic acid administration on the prevalence of NTD. Countries with mandatory fortification achieved a significant increase in folate intake and a significant decline in the prevalence of NTD. This was also true for supplementation trials. However, the prevalence of NTD at birth declined to approximately five cases at birth per 10 000 births and seven to eight cases at birth or abortion per 10 000 births. This decline was independent of the amount of folic acid administered and apparently reveals a ‘floor effect’ for folic acid-preventable NTD. This clearly shows that not all cases of NTD are preventable by increasing the folate intake. The relative decline depends on the initial NTD rate. Countries with NTD prevalence close to the observed floor may have much smaller reductions in NTD rates with folic acid fortification. Additionally, potential adverse effects of fortification on other vulnerable population groups have to be seriously considered. Policy decisions concerning national mandatory fortification programmes must take into account realistically projected benefits as well as the evidence of risks to all vulnerable groups.
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Hoeltzenbein, Maria, Marie-Louise Lehmann, Evelin Beck, Katarina Dathe, and Christof Schaefer. "Ivabradine use in pregnant women—treatment indications and pregnancy outcome: an evaluation of the German Embryotox database." European Journal of Clinical Pharmacology 77, no. 7 (2021): 1029–37. http://dx.doi.org/10.1007/s00228-020-03066-w.
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Abstract Purpose Ivabradine has been approved for the treatment of chronic heart failure and chronic stable angina pectoris in Europe. Based on adverse outcomes of reproductive animal studies and the lack of human data, ivabradine is considered contraindicated during pregnancy. The aim of this observational study is to analyse ivabradine use before and during pregnancy. Methods We evaluated all ivabradine-related requests to the German Embryotox Institute from 2007 to 2019. Exposed pregnancies were analysed as to their outcome. Results Off-label use for supraventricular tachycardia was frequent in women of childbearing age. Of 38 prospectively ascertained pregnancies with ivabradine exposure and completed follow-up, 32 resulted in live births, 3 in spontaneous abortions, and 3 were electively terminated. One neonate presented with major birth defects (atrial septal defect and cleft palate). In 33/38 patients, ivabradine was discontinued after confirmation of pregnancy without cardiac deterioration and 5/38 women continued ivabradine throughout pregnancy. In addition, there were 3 retrospectively reported pregnancies including one major birth defect (tracheal atresia). Conclusion This case series represents the largest cohort of ivabradine-exposed pregnancies, published so far. According to our findings, ivabradine appears not to be a major teratogen. However, established drugs of choice with strong evidence of low risk for the unborn should be preferred in women planning pregnancy. After inadvertent exposure during pregnancy or lack of treatment alternatives, fetal ultrasound for structural anomalies and growth restriction is recommended. In addition, close monitoring is necessary in pregnant women with supraventricular arrhythmias or cardiac disease.
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Hu, Zhao X., Yi N. Ye, Wei G. Wu, et al. "Real-Life State of Anti-Hepatitis B Virus Drug Choice in Child-Bearing Age Male Patients and Effect on Fertility and Fetal Safety." Canadian Journal of Gastroenterology and Hepatology 2019 (April 1, 2019): 1–8. http://dx.doi.org/10.1155/2019/9703907.
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Research on effects of anti-hepatitis B virus (HBV) nucleoside analogs on male fertility and birth defects is limited and safety of nucleoside analogs in pregnancy is still a concern. Chronic hepatitis B (CHB) patients in Guangdong province were surveyed using a structured questionnaire. We collected data including medication type, fertility, and birth defects. Moreover, a survey of the knowledge of antiviral nucleoside analogs safety in fertility of male patients was conducted among physicians nationwide. Semen samples of 30 patients were collected. We screened 1050 HBV-positive male patients. Reasons for not receiving antivirals in 150 patients were “did not meet criteria for antiviral therapy,” fertility, and financial. Furthermore, 900 participants received antivirals (85.71%, 900/1050), including 792 patients with children and 15.15% (120/792) took anti-HBV treatment when preparing for pregnancy. Based on whether they received antiviral therapy during conception or not, we divided patients into two groups. In the child-bearing age group, 88.33% (106/120) of patients received telbivudine (LDT), whereas the other group mainly received entecavir (ETV) (87.20%, 586/672). No significant difference occurred in birth defect incidence rates between both groups. Furthermore, 558 physicians completed questionnaires. Reasons that influenced drug selection were “patient’s condition,” “fertility demand,” “financial condition,” and “compliance.” Telbivudine was the first-choice drug (32.80%, 183/558) while tenofovir (TDF) was the second (2.69%, 15/558). Additionally, 61.47% of physicians considered telbivudine or tenofovir as the first choice for male patients who met antiviral criteria, whereas 19% suggested delayed therapy and follow-up until childbirth. No significant changes occurred in semen volume, concentration, mobility, and percentage before and after administration of anti-HBV nucleoside analogs, which did not affect male fertility and birth defect incidence while the desire for pregnancy influenced drug selection and timing of administration. Further research on the effects of analogs on male fertility and fetal safety is required.
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Kurosawa, Tsumugi Anne, Tamilselvam Gunasekaran, Robert Sanders, and Elizabeth Carr. "Common Arterial Trunk in a 3-Day-Old Alpaca Cria." Case Reports in Veterinary Medicine 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/4609126.
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A 3-day-old alpaca cria presented for progressive weakness and dyspnea since birth. Complete bloodwork, thoracic radiographs, and endoscopic examination of the nasal passages and distal trachea revealed no significant findings. Echocardiogram and contrast study revealed a single artery overriding a large ventricular septal defect (VSD). A small atrial septal defect or patent foramen ovale was also noted. Color flow Doppler and an agitated saline contrast study revealed bidirectional but primarily right to left flow through the VSD and bidirectional shunting through the atrial defect. Differential diagnosis based on echocardiographic findings included common arterial trunk, Tetralogy of Fallot, and pulmonary atresia with a VSD. Postmortem examination revealed a large common arterial trunk with a quadricuspid valve overriding a VSD. Additionally, defect in the atrial septum was determined to be a patent foramen ovale. A single pulmonary trunk arose from the common arterial trunk and bifurcated to the left and right pulmonary artery, consistent with a Collet and Edwards’ type I common arterial trunk with aortic predominance. Although uncommon, congenital cardiac defects should be considered in animals presenting with clinical signs of hypoxemia, dyspnea, or failure to thrive.
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Sugianto, Prajitno. "HUBUNGAN UKURAN DEFEK OMPHALOCELE TERHADAP KELAINAN KONGENITAL PENYERTA." JURNAL KEDOKTERAN 5, no. 2 (2020): 31. http://dx.doi.org/10.36679/kedokteran.v5i2.222.
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Background: Omphalocele is often associated with the presence of other congenital anomalies. One study says that a small of defect omphalocele is often accompanied by intestinal disorders and have a better prognosis. Based on this study the researcher wants to review the relationship between the size of omphalocele defect and the presence of associated congenital anomaly in Hasan Sadikin Hospital. Methods: This is a retrospective cross-sectional study. All patient with omphalocele between January 2007 – March 2012 were included in this study. Data collected were patient demographics, size of omphalocele defect and congenital anomalies identified. In this study, patients were designated as those with small (4 cm and less) or large (greater than 4 cm) defect omphaloceles. This study analyzed correlation between size of defect with associated anomaly using Fisher exact test and p < 0.05 is considered to be significant. Results: There were 52 omphalocele cases (24 girls, 28 boys), median birth weight 2710gr (range 1300gr–4000gr). Twenty seven patients were classified as small defect, with 25 classified as large defect. Anomaly found in the small defect groups consists of facial anomaly (7%); cardiac anomaly (7%); intestinal disorder (22%,P=0,02) include patent omphalomesentericus duct, anorectal malformation and cloaca extrophi; limb anomaly (7%). Meanwhile, anomalies identified in the large defect group consist of facial anomaly (8%); cardac defect (32%) include dextrocardi and tetralogi Fallot; limb anomaly (16%).In this study, cardiac defects was significantly higher in the large defect group, meanwhile intestinal diorder is statistically significant in small defect groups. Conclusion: Small defect omphalocele correlates with an increased prevalence of associated gastrointestinal anomalies and a lower prevalence of cardiac anomalies.