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1
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.
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Horie, Kenji, Hironori Takahashi, Daisuke Matsubara, et al. "Absent Ductus Venosus Associated with Partial Liver Defect." Case Reports in Obstetrics and Gynecology 2018 (June 13, 2018): 1–4. http://dx.doi.org/10.1155/2018/6591025.
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Absent ductus venosus (ADV) is a rare vascular anomaly. We describe a fetus/neonate with ADV with a partial liver defect. A 41-year-old woman was referred to our institute because of fetal cardiomegaly detected by routine prenatal ultrasound, which revealed absence of ductus venosus with an umbilical vein directly draining into the right atrium, consistent with extrahepatic drainage type of ADV. She vaginally gave birth to a 3,096-gram male infant at 38 weeks of gestation. Detailed ultrasound examination revealed a defect of the hepatic rectangular leaf at half a month postnatally. He showed normal development at 1.5 years of age with the liver abnormality and a Morgagni hernia. Liver morphological abnormality should also be considered as a complication of ADV.
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Lastivka, I., A. Babintseva, Y. Hodovanets, M. Soboleva, and D. Koliubakin. "EDWARDS SYNDROME LETHAL CASE OF A NEWBORN GIRL." Neonatology, surgery and perinatal medicine 10, no. 4(38) (2020): 92–97. http://dx.doi.org/10.24061/2413-4260.x.4.38.2020.11.
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Summary. Edwards syndrome is a hereditary disease characterized by trisomy of the 18th chromosome (trisomy 18). The occurrence of Edwards syndrome is 1 per 6 000 live births, the proportion of girls to boys is 3:1.
 In 95 % of all the cases of Edwards syndrome development, an extra copy of the 18th chromosome is present in the cells (complete trisomy), in 2 % the translocation of another chromosome on the 18th one is found; in 3 % of cases “mosaic trisomy” is found when the additional 47th chromosome is found not in all the cells but in a part of them. The most important, but not a single risk factor promoting the development of trisomy 18 is a woman’s age over 40. Prenatal diagnostics of Edwards syndrome includes USD and biochemical screening of a pregnant woman during the 11-13th weeks of gestation studying the levels of β-chorionic human gonadotrophine and plasma protein А, associated with pregnancy, as well as karyotype detection of the fetus in pregnant women from risk groups. 
 The article presents a clinical case of Edwards syndrome of a newborn girl born from I pregnancy (anemia of pregnancy, early toxicosis, maternal chronic pyelonephritis, parental contact with industrial harmful factors), І physiological labour on the 40-41st week with breech presentation, body weight of 1480 g and body length of 40 cm, and 4/4 Apgar score.
 The woman was found to be registered regarding pregnancy since the 15th week of gestation, she positively refused screening examinations. The first USD was performed during the 30th week of gestation. It found complicated congenital developmental defects of the heart and retarded development of the fetus syndrome. The risk of a child’s birth with congenital pathology was considered to be high.
 The child’s condition at birth and during the whole period of treatment and care in the neonatal resuscitation unit was assessed as severe with progressive negative dynamics at the expense of deterioration of multiple organ failure signs. Examination of the patients found multiple dysmorphic signs including narrow eyelid openings, low-set ears, microstomy, micrognathia, deformities of the limbs. By means of instrumental methods of examination semilobar shape of the holoprosencephaly (Patau's syndrome), double origin of the major vessels from the right ventricle, defect of the interatrial septum, subaortal defect, right ventricular hypertrophy, defect of the intraventricular septum, the signs of pulmonary hypertension were found; cytogenetic examination detected -47, ХХ, +18, Edwards syndrome.
 Considering the severity of multiple developmental defects, in spite of initiated treatment, the girl died at the age of 29 days 3 hours, and 30 minutes. The underlying disease and the cause of death of a term, morphologically immature girl with a low body weight at birth was the chromosome defect – trisomy 18 (Edwards syndrome) complicated by the development of multiple organ failure. 
 The clinical case presented illustrates an untimely diagnostics of Edwards syndrome (trisomy 18) due to late registration of the pregnant woman, her refuse from screening examinations, including USD, and detection of levels of β-chorionic human gonadotropin and plasma protein A associated with pregnancy. Late prenatal diagnostics of multiple congenital developmental defects of the fetus, lack of prenatal invasive examination with cytogenetic analysis, and diagnostics of chromosome pathology of the child after birth are associated with the solution of ethical issues concerning the choice of “aggressive” therapeutic tactics or giving palliative aid to the child with Edwards syndrome.
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Villa, Elena, and Paulo R. Rios. "TRANSFORMATION KINETICS FOR NUCLEATION ON RANDOM PLANES AND LINES." Image Analysis & Stereology 30, no. 3 (2011): 153. http://dx.doi.org/10.5566/ias.v30.p153-165.
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Birth and growth processes are known in materials science as nucleation and growth processes. In crystalline materials nucleation almost always takes place in an internal crystalline defect. These defects are classified according to their dimensionality: point, line or planar defects. Therefore, investigating nucleation on sets of dimensionality lower than the set in which the transformation takes place is of paramount importance. Cahn (1956) in a classical work derived expressions for transformation kinetics when nucleation took place on random planes and on random straight lines. He used these expressions to describe nucleation in polycrystalline materials. He considered that nucleation on grain faces could be treated as nucleation on random planes and, likewise, nucleation on grain edges could be treated as nucleation on random lines. The present work revisits and generalizes Cahn’s treatment of nucleation on planes and lines. First a general expression for the case of nucleation on lower dimensional sets is obtained. After that general expressions for nucleation on random planes and random lines are given. This paper provides the mathematical basis for the development of more specific expressions to be used in practical applications. Although this work has been done bearing applications to materials science in mind the results obtained here may be applied to birth and growth processes in any field of science.
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Poly, Ferdousi Hossain, Syeda Afroza, Hasanur Rahman, and Md Imran Hassan. "Study of Risk Factors for Conegnital Heart Defect in a Tertiary Level Hospital." Journal of Dhaka Medical College 27, no. 1 (2018): 51–56. http://dx.doi.org/10.3329/jdmc.v27i1.38946.
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A congenital heart defect is a heart problem which is present at birth, caused by improper development of the heart during fetal development. In majority of cases there is no known reason for the heart to develop improperly. Some type of congenital heart defects are related to chromosomal abnormality(5-6%), some are to single gene defect(3-5%) or environmental factors(2%). In 85-90% of cases there is no identifiable cause and are generally considered to be caused by multifactorial inheritance. There are some maternal factors which have some role in cardiovascular malformations. These include high maternal age(above 30 years), maternal obesity, consanguinity among the parents, fever during pregnancy, gestational diabetes mellitus, smoking, alcohol consumption, ingestion of any teratogenic drug including homeopathy and herbal medicine.
 Objective of the study: To evaluate the risk factors associated with congenital heart disease.
 Methodology: A case control study was conducted at paediatric department of Sir Salimullah Medical College & Mitford Hospital following approval of the protocol from 1st January 2013 to 30th June 2014. Children fulfilling the inclusion criteria-(0-5 year old children of both sexes admitted in paediatric units of Mitford Hospital with any type of congenital heart disease confirmed by echocardiography) were considered as cases. A similar number of age and sex matched children admitted in Mitford Hospital without any cardiac defect were considered as controls. Data were collected by questionnaire.
 Results: The results show that majority of the cases are male. Maternal age (27.09 ± 4.63) and BMI (24.10 ± 2.28) both are significantly higher in cases than those of controls. Among the cases 31.8% mothers had consanguineous marriage (p=0.001) and 27.1% mothers had history of fever during pregnancy whereas it was present in 9.3% mothers of controls, the difference is significant statistically (p=0.001). Among the cases 34.6% mothers had history of gestational diabetes mellitus and only 18.9% controls had so and the difference is significant statistically (p=0.014).
 Conclusion: Relatively old age and more weight during pregnancy, consanguinity between parents, fever during pregnancy, history of gestational diabetes mellitus are the main risk factors of congenital heart defects in children
 J Dhaka Medical College, Vol. 27, No.1, April, 2018, Page 51-56
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Duke, C. Wes, Adolfo Correa, Paul A. Romitti, Joyce Martin, and Russell S. Kirby. "Challenges and Priorities for Surveillance of Stillbirths: A Report on Two Workshops." Public Health Reports 124, no. 5 (2009): 652–59. http://dx.doi.org/10.1177/003335490912400507.
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Stillbirths, those with and without birth defects, are an important public health topic. The National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention conducted two workshops during April and July 2005. Both workshops explored the challenges of conducting surveillance of stillbirths. Workshop participants considered an approach that added the surveillance of stillbirths, those with and without birth defects, as part of existing population-based birth defects surveillance programs in Iowa and Atlanta. The workshops addressed three key aspects for expanding birth defects programs to conduct active, population-based surveillance on stillbirths: ( 1) case identification and ascertainment, ( 2) data collection, and ( 3) data use and project evaluation. Participants included experts in pediatrics, obstetrics, epidemiology, maternal-fetal medicine, perinatology and pediatric pathology, midwifery, as well as practicing clinicians and pathologists. Expanding existing birth defects surveillance programs to include information of stillbirths could potentially enhance the data available on fetal death reports and also could benefit such programs by improving the ascertainment of birth defects.
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Wataya, Takafumi, Kyohei Horikawa, Masashi Kitagawa, and Yuzuru Tashiro. "Thoracic meningocele in lumbo-costo-vertebral syndrome in a child: possible enlargement with repeated motion by anchoring to the diaphragm." Journal of Neurosurgery: Pediatrics 18, no. 2 (2016): 183–86. http://dx.doi.org/10.3171/2016.2.peds15598.
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Lumbo-costo-vertebral syndrome (LCVS) is a rare disorder in children that is characterized by hemivertebrae, congenital absence of ribs, meningocele, and hypoplasia of the truncal and abdominal wall presenting as a congenital lumbar hernia. An otherwise healthy 12-month-old girl was referred to the authors' hospital with soft swelling on her left middle back; scoliosis had been present since birth. Imaging revealed a thoracic meningocele, ectopia of the spleen suggesting lumbar hernia, multiple anomalies of the thoracic vertebral columns, and defects of the ribs; thus, LCVS was diagnosed. Surgical observation revealed that the meningocele was firmly anchored to part of the diaphragm, which created stretching tension in the meningocele continuously with exhalation. Once detached, the meningocele shrank spontaneously and never developed again after cauterization. In this case, continuous or pulsatile pressure in the presence of a vertebral defect was thus considered to be an important factor for formation of the thoracic meningocele.
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Harsono, Mimily, David Yanishevski, and Massroor Pourcyrous. "Congenital Perineal Groove Defect in Monozygotic Twin Infants: A Literature Review." American Journal of Perinatology Reports 11, no. 01 (2021): e54-e57. http://dx.doi.org/10.1055/s-0041-1727145.
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AbstractPerineal groove is a rare benign congenital anomaly with lesion that resembles perforation of mid-perineum or perineal raphe area. Most reported cases of congenital perineal groove presented as an isolated defect in term or early-term singleton female infants. Thus far, there is no reported case of this anomaly in monozygotic twins. Embryo pathogenesis of this female predominance congenital defect remains controversial. Many clinicians are unfamiliar with this congenital anomaly. This congenital defect tends to get self-resolved at around 2 year of age. Nevertheless, the exposed nonepithelized mucous membrane can carry risk of local infection or irritation with the possibility of requiring early surgical correction. The defect can be infrequently associated with other ano-urogenital malformations that required immediate surgical intervention. Most isolated cases tend to be asymptomatic and self-healed with expectant management. Surgical correction may be considered if not healed after 2 years of age. Early diagnosis at birth is important to avoid misdiagnoses at later age for trauma, dermatitis, sexual abuse, and risk of unnecessary aggressive intervention. Early parental counseling for providing good hygiene and close follow-up is important to prevent infection or inflammation. Presentation of this anomaly in both monozygotic twins may support the hypothesis of potential disruption during embryo morphogenesis stages.
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Bloor, Samuel, Dinesh Giri, Mohammed Didi, and Senthil Senniappan. "Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies." Case Reports in Genetics 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/3941483.
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B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height < 2.5 SD). MRI of the pituitary gland revealed a small anterior pituitary. She has multiple dysmorphic features: anteverted nares, small upturned nose, hypertelorism, slight frontal bossing, short proximal bones, hypermobile joints, and downslanting palpebral fissures. Whole exome sequencing (WES) was performed on the genomic DNA from the patient and biological mother. A heterozygous mutation in B3GAT3 (c.888+262T>G) in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.
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Banu, Tahmina, Tanvir K. Chowdhury, Sahadeb Kumar Das, Md Zonaid Chowdhury, Md Momtazul Hoque, and M. A. Mushfiqur Rahman. "Birth Defects: A Hospital Based Study in Chittagong, Bangladesh." Chattagram Maa-O-Shishu Hospital Medical College Journal 13, no. 3 (2014): 5–10. http://dx.doi.org/10.3329/cmoshmcj.v13i3.20994.
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Introduction: Birth defects are one of the most common causes of disability in developed and developing countries. Birth defects are structural or functional anomalies, including metabolic disorders, which are present at the time of birth. Although the worldwide incidence of birth defects is estimated at 3-7%, the rate varies widely between countries. In this paper, we categorized the birth defects most commonly seen in Bangladesh and their outcome. We hope to use this information to guide the strategies used to manage these problems.Materials and Methods: This hospital based, descriptive study was done in the Department of Pediatric Surgery in Chittagong Medical College and Hospital from January 2008 to December 2012. Records of all patients with birth defects in our hospital and departmental database were reviewed. Types of birth defects, age, sex, surgery performed and outcome were analyzed in patients admitted during this period. Data were analyzed by SPSS 17. Statistical analysis was performed by the chi-square test and mean and percentage values were calculated. P<0.05 was considered to be statistically significant.Results: During this five year period, there were 5661 patients of birth defects admitted in this department. Of these, 5156 had a single congenital anomaly and 505 had multiple congenital anomalies. The male to female ratio was 2.1: 1. Birth defects comprised 44.61% of all Pediatric surgical admissions and 0.90% of total hospital admissions. The gastrointestinal system was the most common organ system involved, followed by the genitourinary system. Inguinal hernias were the most common gastrointestinal abnormality and hypospadias were the most common genitourinary case. A total of 3921 operations were performed for birth defects, representing 69.26% of total admission for birth defects. Most operations were done for gastrointestinal and genito-urinary defects. Inguinal herniotomy was the most commonly performed operation followed by laparotomy for various indications. There were 225 deaths for birth defects. While this is only 3.97% of all admissions for birth defects, this represents 51.49% of all (pediatric) deaths during the study period. The most common cause of death was anorectal malformations followed by gastroschisis.Conclusion: The study helps assess the burden of birth defects in the Bangladeshi society. There is a need for more extensive, nationwide screening studies to determine the birth prevalence, types and distribution of birth defects in Bangladesh.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i3.20994
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Chiorazzi, Nicholas, and Manlio Ferrarini. "Evolving View of the In-Vivo Kinetics of Chronic Lymphocytic Leukemia B Cells." Hematology 2006, no. 1 (2006): 273–78. http://dx.doi.org/10.1182/asheducation-2006.1.273.
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Abstract B-cell chronic lymphocytic leukemia (B-CLL) has long been considered a disease of “accumulation,” due to a presumed defect in programmed cell death. Recent data, however, suggest that B-CLL cells are born at a normal to an accelerated rate, with the rate of proliferation varying among patients. In addition, differences in birth rates, activation state, and inducibility appear to exist among subpopulations of cells within individual leukemic clones. The extent to which such dissimilarities influence clinical course and outcome is still unclear. This review examines the evidence supporting the existence of a proliferative compartment in B-CLL and the role that proliferating cells might play in the progression and evolution of this disease.
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Mhapankar, Sabrina A., Annabelle S. Vadukkut, Utkarsha S. Patil, and Sushil Kumar. "Antenatally diagnosed posterior Meningoencephalocele: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 6, no. 10 (2017): 4697. http://dx.doi.org/10.18203/2320-1770.ijrcog20174467.
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Congenital encephalocele is a neural tube defect which is caused by an embryonic development abnormality. It is characterized by a sac-like protrusion of the brain, meninges and other intracranial structures through the skull. 75% of encephalocoeles are occipital. Pre-natal screening is very essential for timely recognition of the condition. At the same time, proper intake of folic acid in the first few weeks of pregnancy may reduce the occurrence of this form of NTD. The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). A favorable surgical outcome generally follows an accurate strategy taking into account individual features of the lesion. A Caesarian delivery may be considered to allow for less traumatic birth for the fetal head. Here we present a case of a foetus with posterior meningoencephalocoele diagnosed antenatally at 32 weeks of pregnancy. Patient was delivered by elective Cesearian section. The encephalocoele was resected and the defect was closed primarily. The baby was well on the regular follow-up at the neurosurgery outpatient department.
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Togănel, Rodica. "Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease." Acta Medica Marisiensis 59, no. 2 (2013): 121–25. http://dx.doi.org/10.2478/amma-2013-0029.
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Abstract Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.
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Jaffary, Nora E. "Monstrous Births and Creole Patriotism in Late Colonial Mexico." Americas 68, no. 02 (2011): 179–207. http://dx.doi.org/10.1017/s000316150000674x.
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On February 8, 1785, theGazeta de México, one of New Spain's first news periodicals, published an announcement from the city of Guanajuato celebrating the recent birth of a pair of conjoined twins:Doña Rafaela Cortés … has delivered two children from one birth, joined together at the back of their heads by the skull. They received the holy waters of baptism and were christened Joseph Nepomuceno Guadalupe and Joseph Ignacio Guadalupe… Many people, admiring these rare effects of nature, have visited them, and there has been no record in these twins of any deformity or defect in their separate and agile bodies… The few doctors and surgeons residing in the city have considered separating them, but have not found it advisable because of the manner in which they are united, and every day more news circulates about their existence and longevity, causing ever more admiration for them given that the first one was born foot-first, and in delivering him, the midwife discovered the knot that joined the two heads.
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Funk, Anna L., Bruno Hoen, Ingrid Vingdassalom, et al. "Reassessment of the risk of birth defects due to Zika virus in Guadeloupe, 2016." PLOS Neglected Tropical Diseases 15, no. 3 (2021): e0009048. http://dx.doi.org/10.1371/journal.pntd.0009048.
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Background In the French Territories in the Americas (FTA), the risk of birth defects possibly associated with Zika virus (ZIKV) infection was 7.0% (95%CI: 5.0 to 9.5) among foetuses/infants of 546 women with symptomatic RT-PCR confirmed ZIKV infection during pregnancy. Many of these defects were isolated measurement-based microcephaly (i.e. without any detected brain or clinical abnormalities) or mild neurological conditions. We wanted to estimate the proportion of such minor findings among live births of women who were pregnant in the same region during the outbreak period but who were not infected with ZIKV. Methods In Guadeloupe, pregnant women were recruited at the time of delivery and tested for ZIKV infection. The outcomes of live born infants of ZIKV non-infected women were compared to those of ZIKV-exposed live born infants in Guadeloupe, extracted from the FTA prospective cohort. Results Of 490 live born infants without exposure to ZIKV, 42 infants (8.6%, 95%CI: 6.2–11.4) had mild abnormalities that have been described as ‘potentially linked to ZIKV infection’; all but one of these was isolated measurement-based microcephaly. Among the 241 live born infants with ZIKV exposure, the proportion of such abnormalities, using the same definition, was similar (6.6%, 95%CI: 3.8–10.6). Conclusions Isolated anthropometric abnormalities and mild neurological conditions were as prevalent among infants with and without in-utero ZIKV exposure. If such abnormalities had not been considered as ‘potentially linked to ZIKV’ in the original prospective cohort in Guadeloupe, the overall estimate of the risk of birth defects considered due to the virus would have been significantly lower, at approximately 1.6% (95% CI: 0.4–4.1). Trial registration ClinicalTrials.gov (NCT02916732)
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Sharma, Rajan K., Gopal R. Sharma, Prakash Bista, and Rajiv Jha. "A Child with Roberts Syndrome: A Case Report." Nepal Journal of Neuroscience 14, no. 2 (2017): 39–42. http://dx.doi.org/10.3126/njn.v14i2.19734.
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Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb defi ciency, it is important to be identified in order to give accurate genetic counseling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 9 year old female child who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome. Nepal Journal of Neuroscience, Vol. 14, No. 2, 2017 Page: 39-42
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Padberg, Stephanie, Evelin Wacker, Reinhard Meister, et al. "Observational Cohort Study of Pregnancy Outcome after First-Trimester Exposure to Fluoroquinolones." Antimicrobial Agents and Chemotherapy 58, no. 8 (2014): 4392–98. http://dx.doi.org/10.1128/aac.02413-14.
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ABSTRACTFluoroquinolones are avoided during pregnancy due to developmental toxicity in animals. The aim of this study was to assess the fetal risk after intrauterine fluoroquinolone exposure. We performed an observational study of a prospectively ascertained cohort of pregnant women exposed to a fluoroquinolone during the first trimester. Pregnancy outcomes were compared to those of a cohort exposed to neither fluoroquinolones nor teratogenic or fetotoxic drugs. The outcomes evaluated were major birth defects (structural abnormalities of medical, surgical, or cosmetic relevance), spontaneous abortion, and elective termination of pregnancy. Pregnancy outcomes of 949 women with fluoroquinolone treatment were compared with those of 3,796 nonexposed controls. Neither the rate of major birth defects (2.4%; adjusted odds ratio [ORadj], 0.91; 95% confidence interval [CI], 0.6 to 1.5) nor the risk of spontaneous abortion (adjusted hazard ratio [HRadj], 1.01; 95% CI, 0.8 to 1.3) was increased. However, there was a nonsignificant increase in major birth defects after exposure to moxifloxacin (6/93, 6.5%; crude odds ratio [ORcrude], 2.40; 95% CI, 0.8 to 5.6). Neither a critical exposure time window within the first trimester nor a specific pattern of birth defects was demonstrated for any of the fluoroquinolones. The rate of electively terminated pregnancies was increased among the fluoroquinolone-exposed women (HRadj, 1.32; 95% CI, 1.03 to 1.7). The gestational ages at delivery and birth weights did not differ between groups. Our study did not detect an increased risk of spontaneous abortion or major birth defects. These reassuring findings support the recommendation to allow fluoroquinolone use in early pregnancy in selected cases. After the use of moxifloxacin, a detailed fetal ultrasound examination should be considered.
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Motte, Jeremias, Janina Kneiphof, Katrin Straßburger-Krogias, et al. "Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases." Therapeutic Advances in Neurological Disorders 12 (January 2019): 175628641987211. http://dx.doi.org/10.1177/1756286419872115.
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The cblC defect is the most common inborn error of cobalamin (Cbl) metabolism. Clinical severity and presentation of the cblC defect ranges from death to mild disability. Only 71 cases of late-onset cblC defect have been described in the literature. We provide the 41-year follow up of two siblings with a late-onset cblC defect, first described after initial diagnosis in 1996. While one of the siblings showed initial symptoms resembling multiple sclerosis with a good response to corticosteroids, the other sister showed only subclinical signs of the disease. The course of the first case was characterized by a severe deterioration and intensive-care therapy after respiratory failure. After diagnoses and Cbl treatment, the patient survived and showed a pronounced improvement of the symptoms. Both sisters have an active life and gave birth to healthy children. The reason for the initial improvement after corticosteroids could not be explained by the classical metabolic pathways of Cbl. Recent studies have suggested that Cbl plays an important role as a regulator of the balance between neurotrophic and neurotoxic factors in the central and peripheral nervous system (CNS and PNS). This first long-term follow up revealed that ultra-high-dose intramuscular Hydroxocobalamin (OH-Cbl) treatment can effectively protect patients from disease progression. It underlines the importance of diagnostic vigilance and laboratory work up even in cases without typical hematologic signs of Cbl deficiency. Cbl-related diseases are often a chameleon and must always be considered in the differential of demyelinating diseases of the PNS and CNS. The case supports the theory that it is not only the classical biochemical pathways that play a key role in Cbl deficiency, especially with regard to neurological symptoms.
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Yu, Patricia A., Emmy L. Tran, Corinne M. Parker, et al. "Safety of Antimicrobials During Pregnancy: A Systematic Review of Antimicrobials Considered for Treatment and Postexposure Prophylaxis of Plague." Clinical Infectious Diseases 70, Supplement_1 (2020): S37—S50. http://dx.doi.org/10.1093/cid/ciz1231.
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Abstract Background The safety profile of antimicrobials used during pregnancy is one important consideration in the decision on how to treat and provide postexposure prophylaxis (PEP) for plague during pregnancy. Methods We searched 5 scientific literature databases for primary sources on the safety of 9 antimicrobials considered for plague during pregnancy (amikacin, gentamicin, plazomicin, streptomycin, tobramycin, chloramphenicol, doxycycline, sulfadiazine, and trimethoprim-sulfamethoxazole [TMP-SMX]) and abstracted data on maternal, pregnancy, and fetal/neonatal outcomes. Results Of 13 052 articles identified, 66 studies (case-control, case series, cohort, and randomized studies) and 96 case reports were included, totaling 27 751 prenatal exposures to amikacin (n = 9), gentamicin (n = 345), plazomicin (n = 0), streptomycin (n = 285), tobramycin (n = 43), chloramphenicol (n = 246), doxycycline (n = 2351), sulfadiazine (n = 870), and TMP-SMX (n = 23 602). Hearing or vestibular deficits were reported in 18/121 (15%) children and 17/109 (16%) pregnant women following prenatal streptomycin exposure. First trimester chloramphenicol exposure was associated with an elevated risk of an undescended testis (odds ratio [OR] 5.9, 95% confidence interval [CI] 1.2–28.7). Doxycycline was associated with cardiovascular malformations (OR 2.4, 95% CI 1.2–4.7) in 1 study and spontaneous abortion (OR 2.8, 95% CI 1.9–4.1) in a separate study. First trimester exposure to TMP-SMX was associated with increased risk of neural tube defects (pooled OR 2.5, 95% CI 1.4–4.3), spontaneous abortion (OR 3.5, 95% CI 2.3–5.6), preterm birth (OR 1.5, 95% CI 1.1–2.1), and small for gestational age (OR 1.6, 95% CI 1.2–2.2). No other statistically significant associations were reported. Conclusions For most antimicrobials reviewed, adverse maternal/fetal/neonatal outcomes were not observed consistently. Prenatal exposure to streptomycin and TMP-SMX was associated with select birth defects in some studies. Based on limited data, chloramphenicol and doxycycline may be associated with adverse pregnancy or neonatal outcomes; however, more data are needed to confirm these associations. Antimicrobials should be used for treatment and PEP of plague during pregnancy; the choice of antimicrobials may be influenced by these data as well as information about the risks of plague during pregnancy.
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Foresta, Carlo, Daniela Zuccarello, Andrea Garolla, and Alberto Ferlin. "Role of Hormones, Genes, and Environment in Human Cryptorchidism." Endocrine Reviews 29, no. 5 (2008): 560–80. http://dx.doi.org/10.1210/er.2007-0042.
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Abstract Cryptorchidism is the most frequent congenital birth defect in male children (2–4% in full-term male births), and it has the potential to impact the health of the human male. In fact, although it is often considered a mild malformation, it represents the best-characterized risk factor for reduced fertility and testicular cancer. Furthermore, some reports have highlighted a significant increase in the prevalence of cryptorchidism over the last few decades. Etiology of cryptorchidism remains for the most part unknown, and cryptorchidism itself might be considered a complex disease. Major regulators of testicular descent from intraabdominal location into the bottom of the scrotum are the Leydig-cell-derived hormones testosterone and insulin-like factor 3. Research on possible genetic causes of cryptorchidism has increased recently. Abundant animal evidence supports a genetic cause, whereas the genetic contribution to human cryptorchidism is being elucidated only recently. Mutations in the gene for insulin-like factor 3 and its receptor and in the androgen receptor gene have been recognized as causes of cryptorchidism in some cases, but some chromosomal alterations, above all the Klinefelter syndrome, are also frequently involved. Environmental factors acting as endocrine disruptors of testicular descent might also contribute to the etiology of cryptorchidism and its increased incidence in recent years. Furthermore, polymorphisms in different genes have recently been investigated as contributing risk factors for cryptorchidism, alone or by influencing susceptibility to endocrine disruptors. Obviously, the interaction of environmental and genetic factors is fundamental, and many aspects have been clarified only recently.
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Cox, Trevor, Eftychia Eirini Psarelli, Sophie Taylor, et al. "Subclinical ochronosis features in alkaptonuria: a cross-sectional study." BMJ Innovations 5, no. 2-3 (2019): 82–91. http://dx.doi.org/10.1136/bmjinnov-2018-000324.
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BackgroundAlkaptonuria (AKU) is present from birth, yet clinical effects are considered to appear later in life. Morbidity of AKU, considered irreversible, is secondary to ochronosis. Age of ochronosis onset is not clearly known. Nitisinone profoundly lowers homogentisic acid (HGA), the metabolic defect in AKU. Nitisinone also arrests ochronosis and slows progression of AKU. However, tyrosinaemia post-nitisinone has been associated with corneal keratopathy, rash and cognitive impairment in HT 1. The optimal time to start nitisinone in AKU is unknown.MethodsIn an open, cross-sectional, single-site study, 32 patients with AKU were to be recruited. The primary outcome was presence of ochronosis in an ear biopsy. Secondary outcomes included analysis of photographs of eyes/ears, serum/urine HGA, markers of tissue damage/inflammation/oxidation, MRI imaging, gait, quality of life and Alkaptonuria Severity Score Index (qAKUSSI).ResultsThirty patients, with mean age (SD) 38 (14) years, were recruited. Percentage pigmentation within ear biopsies increased with age. Ear pigmentation was detected in a 20-year-old woman implying ochronosis can start in patients before the age of 20. Gait and qAKUSSI were outside the normal range in all the patients with AKU.ConclusionsOchronosis can be present before age 20 years.
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Bower, Carol, and Michèle Hansen. "Assisted reproductive technologies and birth outcomes: overview of recent systematic reviews." Reproduction, Fertility and Development 17, no. 3 (2005): 329. http://dx.doi.org/10.1071/rd04095.
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Several systematic reviews have been published recently on birth outcomes of infants conceived through assisted reproductive technologies (ART), compared with infants conceived spontaneously. These outcomes include perinatal mortality, preterm birth, low birthweight and birth defects. Methodological limitations of many of the individual studies (including small sample size, potential for bias in ascertainment of outcomes and considering singletons and multiples together) were obviated in these reviews by excluding studies where methods were considered inadequate, by conducting meta-analyses using data from all methodologically sound studies (small and large) and by examining singletons separately. Overall, the reviews indicate few differences between outcomes in ART twins compared with twins conceived spontaneously. However, in singleton ART infants, there are around two-fold increases in risk of perinatal mortality, low birthweight and preterm birth, about a 50% increase in small for gestational age and a 30–35% increase in birth defects, compared with singletons conceived spontaneously. Couples considering ART should be counselled about the increased risk of adverse outcomes. Epidemiologists, in conjunction with clinical and laboratory colleagues, should now focus on large, methodologically sound studies with long-term follow up that seek to identify the reasons for these increased risks and their long-term consequences, whether they are associated with particular technologies and causes of infertility, and how they might be reduced.
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Andersen, S. L., and P. Laurberg. "Graves'-Basedow disease in pregnancy." Nuklearmedizin 54, no. 03 (2015): 106–11. http://dx.doi.org/10.1055/s-0037-1616612.
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SummaryThyroid hormones are essential development factors and maternal thyroid dysfunction may cause pregnancy complications and diseases in the fetus/child. In the present review we discuss new data on the incidence of Graves'-Basedow disease (GBD) in and around pregnancy, and how hyperthyroidism may affect the risk of spontaneous abortion and stillbirth.A special concern in pregnant women is the potential side effects from the use of antithyroid drugs (ATDs). One type of side effects is the allergic/toxic reactions to the drugs, which seem to be similar in and outside pregnancy, and another is that ATDs tend to over treat the fetus when the mother with GBD is made euthyroid. To avoid fetal hypothyroidism, the lowest possible ATD dose should be used to keep maternal thyroid function at the upper limit of normality with low serum TSH. Birth defects after the use of methimazole (MMI) (or its prodrug carbimazole) have been considered to be very rare, and no risk has previously been associated with the use of propylthiouracil (PTU). However, a recent Danish national study found that 1/30 of children exposed to MMI in early pregnancy had birth defects associated with this, and many defects were severe. PTU exposure was associated with defects in 1/40, and these defects were less severe. Proposals are given on how to reduce the risk of ATD associated birth defects.
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Poolsawat, S. S., and C. A. Huerta. "Acetaminophen: Abortifacient and embryocidal action." Proceedings, annual meeting, Electron Microscopy Society of America 44 (August 1986): 130–31. http://dx.doi.org/10.1017/s0424820100142293.
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Introduction. Chemical toxicity in the U.S. affects approximately 40% of the nation's 80 million workers who are exposed to toxic chemicals on a full or part-time bases. In 1980, about 40% of this workforce was comprised of women of childbearing ages. Considering such figure of a large number of women exposed to chemical toxins, it is a wonder that we have not had an epidemic of birth defects and organ abnormalities. A study has pointed that about 40% to 50% of all conceptions are eliminated before week 20 of gestation by way of a safety mechanism which helps to reduce the number of birth defects Acetaminophen, considered the safest of all over-the-counter analgesics, has been reported to induce fatal liver necrosis in man and animals.
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Hamet, Pavel, Johanne Tremblay, Stephen C. Pang, Susan V. Walter, and Yuen-I. Wen. "Primary versus secondary events in hypertension." Canadian Journal of Physiology and Pharmacology 63, no. 4 (1985): 380–86. http://dx.doi.org/10.1139/y85-068.
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Functional modifications, such as a reduction in hormonal response, which occur in the cardiovascular system in hypertension, are reflected at the cellular level by anomalies in cyclic nucleotide and other messenger systems. To distinguish between primary and adaptive abnormalities, we pursued three research strategies. (i) Investigations on various models of hypertension. To be considered a primary defect, an abnormality should also be present in other genetically hypertensive models. Indeed, we have confirmed the occurrence of cellular hyperplasia in the heart of spontaneously hypertensive rats (SHR) as well as in spontaneously hypertensive mice (SHM). An increase of calmodulin levels in the heart and kidney is also observed in both the SHR and SHM. (ii) Studies on the evolution of hypertension with age. In humans, a decrease of cAMP levels in response to β-adrenergic stimulation in older patients is contrasted with an excess in younger subjects. In the SHR, protein kinase activity of the heart is lower in the prehypertensive stages, whereas this defect appears much later in the aorta, (iii) Experiments on anomalies in newborns and cultured cells. The heart and kidney in the SHR exhibit significant hyperplasia at birth, and an abnormal growth continues in tissue culture. We hope that these strategies will eventually help to provide biochemical and functional markers for genetic analysis of factors which may be involved in the pathogenesis of hypertension.
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Fragoso, Yara Dadalti, Alessandro Finkelsztejn, Elizabeth Regina Comini-Frota, et al. "Pregnancy and multiple sclerosis: the initial results from a Brazilian database." Arquivos de Neuro-Psiquiatria 67, no. 3a (2009): 657–60. http://dx.doi.org/10.1590/s0004-282x2009000400015.
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PURPOSE: Pregnancy management poses an extra challenge to physicians and their multiple sclerosis (MS) patients. There are few papers reporting databases on the subject. METHOD: Brazilian database from nine MS clinical and research units, with complete data on 47 pregnant women (49 pregnancies). RESULTS: Despite relatively high exposure to MS medications, no birth defects were reported. Low birth weight and prematurity were similar to those for developing countries. Three complications may have been associated with these medications, while three others were considered to be of purely obstetric nature. CONCLUSION: Our results confirm previous findings on lower relapse rate during pregnancy and add to the present literature informing on data related to drug exposure.
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Shafaq, Najibullah, and Walikhan Oryakhil. "Investigating the birth prevalence of congenital club foot in both Paktya and Kapisa provinces of Afghanistan." International Journal of Research in Orthopaedics 7, no. 2 (2021): 264. http://dx.doi.org/10.18203/issn.2455-4510.intjresorthop20210618.
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<p class="abstract"><strong>Background: </strong>congenital talipes equinovarus (CTEV) or Clubfoot is one of the most common birth defects of the musculoskeletal system and affects 1 in every 1000 live births each year that cause mobility impairment. The purpose of this study is to investigating the birth prevalence of congenital club foot in both paktya and kapisa provinces of Afghanistan.</p><p class="abstract"><strong>Methods: </strong>This study is descriptive and cross-sectional that is done on all live birth babies in a one-year period in the Paktya regional hospital (paktya province) and Alberoni teaching hospital (kapisa province) of Afghanistan from September 2019 to September 2020 and in this study, all ethical considerations were considered. The variables that were examined in our study included the following: type of delivery, mother age, gender and birth weight of the baby, newborn legs were photographed on the first day of birth and evaluated by an orthopedic surgeon. Finally, statistical data were analyze by using SPSS software</p><p class="abstract"><strong>Results:</strong> In this study 35 cases of multiple births including 33 cases of twins and 2 cases of triplets were recorded and the rate of cesarean section was 5.96% in this group and data showed 99.65% of infant with no congenital talipes equinovarus or club foot abnormalities Subsequently, 0.35% or 36 people had congenital clubfoot which it had more incidence in male and bilateral form was more common.</p><p class="abstract"><strong>Conclusions: </strong>Based on the results of our study we found that prevalence of clubfoot is about 3.5 per 1000 live birth similar to other low-income country which it’s rate was more. Because diagnosis and treatment of clubfoot in the early stages is more possible Therefore, timely recognition, diagnosis and treatment are significant and helpful to decrease medical expenses. Our result in this study support high prevalence of clubfoot anomaly in mentioned provinces of Afghanistan because of different genetic and environmental risk factor to provide practical suggestions we need more epidemiologic study in all over the Afghanistan to find them.</p>
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O. Odunvbun, Williams, Billy C. Johnson, Daniel W. Kofa, Forkape B. Duyenko, Magdalene E, Odunvbun, and Etedafe P. Gharoro. "A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia." Ghana Medical Journal 55, no. 1 (2021): 77–79. http://dx.doi.org/10.4314/gmj.v55i1.11.
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We report a case of spontaneous rare birth deformity. A case of Amelia and Phocomelia in a neonate. Amelia is a rare congenital disorder, even more so, is the combined amelia and phocomelia in a neonate. True Phocomelia was defined as the total absence of the intermediate segments of the limb. With the hand or foot (normal, almost normal, or malformed), directly attached to the trunk. The common aetiological association with phocomelia is from the use of thalidomide and genetic inheritance, as an autosomal recessive trait, involving chromosome 8. Isolated amelia is not generally considered to be of genetic origin. We present a neonate delivered by a 28-years multipara in Liberia, in West Africa Sub-Region, with amelia involving the two upper limbs, right lower limb and a Phocomelia involving the left lower limb (absence of tibia and fibula and feet with three toes). Africa is the only continent not included in the International Clearinghouse for Birth Defects Surveillance and Research. It is hoped that case reports of congenital limb deformities from Africa, will contribute to the formation of a database for birth defects shortly.
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Sharma, Seema, Vipin Sharma, and Meenakshi Bothra. "Frontonasal dysplasia (Median cleft face syndrome)." Journal of Neurosciences in Rural Practice 03, no. 01 (2012): 65–67. http://dx.doi.org/10.4103/0976-3147.91947.
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ABSTRACTThis is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity and no family history of similar conditions. So inheritance of this case could be considered sporadic. Maxillofacial surgery should be considered for all patients for whom improvement is possible. However, in developing countries where there are considerable limitations in provision of social services, with economic and educational constraints, correction of such major defects remains a challenging task.
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Fukiyama, Yurie, Masahiro Tonari, Junko Matsuo, et al. "A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing." Case Reports in Ophthalmology 9, no. 1 (2018): 108–13. http://dx.doi.org/10.1159/000485964.
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Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus. Examination revealed bilateral fundus oculi albinoticus, mild iridic hypopigmentation, optic atrophy, and poor visual tracking. Genetic testing revealed a deletion in the Prader-Willi syndrome/AS region on chromosome 15, and together with the results of methylation analysis, his condition was diagnosed as AS. Follow-up examinations revealed no change in the fundus oculi albinoticus and optic atrophy, nor did they indicate poor visual tracking. Conclusions: When fundus oculi albinoticus and optic atrophy are observed in patients with multiple malformations, AS should be considered as a differential diagnosis.
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Izmerov, N. F., O. V. Sivochalova, M. A. Fesenko, E. I. Denisov, and G. V. Golovaneva. "THE ISSUES OF WORKERS REPRODUCTIVE HEALTH PROTECTION FROM HARMFUL OCCUPATIONAL END ENVIROMENRAL EXPOSURES." Annals of the Russian academy of medical sciences 67, no. 12 (2012): 47–53. http://dx.doi.org/10.15690/vramn.v67i12.481.
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The problem of workers reproductive health protection from harmful occupational and environmental exposures is amongst the national priorities due to demographic situation in Russia and decrease of the manpower. Some issues of women's reproductive health disorders are considered from occupational health standpoint. The demographic and epidemiological data on pregnancy course and outcome, birth defects, children’s morbidity etc. are presented and discussed. Some proposal as to risk management and medical surveillance of reproductive health, including legal instruments are put forward.
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ALI, Esraa Abd Almuhsen, and Hussein Fadhil ALJAWADI. "PREVALENCE AND RISK FACTORS FOR OCCURRENCE OF CONGENITAL ANOMALIES IN NEONATES AT HOSPITAL FOR CHILD AND MATERNITY IN MISAN PROVINCE." Periódico Tchê Química 17, no. 36 (2020): 1176–85. http://dx.doi.org/10.52571/ptq.v17.n36.2020.1192_periodico36_pgs_1176_1185.pdf.
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Congenital disabilities affect a remarkable proportion of neonates and have a significant role in hospital admission, morbidity, and pediatrics mortality. Besides, the long-term morbidity and disability caused by birth defects may have a considerable effect on the development of the child and family and health care systems. In Misan, congenital disabilities are considered a third common cause of neonatal mortality. This study aimed to estimate the prevalence, types, and risk factors of congenital disabilities to have an action plan toward preventing the occurrence of these defects. A cross-sectional study performed in the neonatal care unit in Misan Hospital for Child and Maternity during the period of two years (2018 and 2019). Misan province is located in the South East of Iraq. The information was collected from the files of patients and registration records. Any delivered a live neonate with birth defects was enrolled in this study. These cases were diagnosed depending on history, clinical examination supported by other investigations, and radiographic studies whenever needed. The prevalence rates of congenital disabilities were 7.1/1000 and 6.6/1000 live birth in 2018 and 2019, respectively. Central nervous system involvement was the most typical pattern. Congenital disabilities were more frequent in male, single, and term babies of maternal age 18-35 years living in an urban area with a consanguinity history. Thus, the prevalence rate of congenital disabilities was notably high in Misan. Efforts toward prevention, as well as improving the prenatal diagnosis, would be essential.
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Sema, Alekaw, Firehiwot Tesfaye, Yalelet Belay, Bezabh Amsalu, Desalegn Bekele, and Assefa Desalew. "Associated Factors with Low Birth Weight in Dire Dawa City, Eastern Ethiopia: A Cross-Sectional Study." BioMed Research International 2019 (December 9, 2019): 1–8. http://dx.doi.org/10.1155/2019/2965094.
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Background. Low Birth Weight (LBW) is a serious public health concern in low- and middle-income countries. Globally, 20 million, an estimated 15% to 20% of babies were born with LBW, and, of these, 13% were in sub-Saharan Africa. Although the World Health Assembly targeted to reduce LBW by 30% by the end of 2025, little has been done on and known about LBW. To meet the goal successfully and efficiently, more research studies on the problem are vital. Hence, the aim of this study was to determine the prevalence and the associated factors of LBW in Dire Dawa city, eastern Ethiopia. Objective. The purpose of this study was to assess the prevalence and the associated factors of low birth weight in Dire Dawa City, eastern Ethiopia, 2017. Method. A cross-sectional study designed was conducted, and using a systematic sampling technique, 431 mothers who gave birth in the public hospitals in Dire Dawa city from July 01 to August 30, 2018, were selected. Stillbirth and infants with birth defects were excluded from the study. Well-trained data collectors collected the data using a structured questionnaire which was pretested. The data were analyzed using SPSS Version 22.0. The Adjusted Odds Ratio (AOR) with 95% confidence interval (CI) was applied in multivariate logistic regression models, and p value less than 0.05 was considered as statistical significant. Result. The prevalence of low birth weight was 21%. Not received nutritional counseling during antenatal care (AOR = 2.03, 95% CI: 1.01, 4.06), preterm birth (AOR = 18.48, 95% CI: 6.51, 52.42), maternal smoking (AOR = 3.97, 95% CI: 1.59, 9.88), and height of the mother less than 150 cm (AOR = 3.54, 95% CI: 1.07, 11.76) were significantly associated with Low birth weight. Conclusion. There was a high prevalence of low birth weight in the study area. Effective dietary counseling and additional diet, implementing proven strategies to prevent preterm birth and avoid smoking during pregnancy might decrease the low birth weight and then enhance child survival.
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Nascimento, Luiz Fernando Costa, Adrian Blanco Machin, and Djalma Antonio Almeida dos Santos. "Are there differences in birth weight according to sex and associations with maternal exposure to air pollutants? A cohort study." Sao Paulo Medical Journal 135, no. 4 (2017): 347–54. http://dx.doi.org/10.1590/1516-3180.2016.0262100317.
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ABSTRACT CONTEXT AND OBJECTIVE: Several effects of exposure to air pollutants on human health are known. The aim of this study was to identify whether exposure of pregnant women to air pollutants contributes towards low birth weight and which sex is more affected. DESIGN AND SETTING: Longitudinal study using data on newborns from mothers living in São José do Rio Preto (SP) who were exposed to air pollutants in 2012-2013. METHODS: A hierarchical model on three levels was built using maternal and newborn variables and environmental concentrations of particulate matter, ozone and nitrogen dioxide in quartiles. Preterm new-borns, twins and newborns with birth defects were excluded and exposure windows of 30, 60 and 90 days before delivery were considered. RESULTS: 8,948 newborns were included: 4,491 males (50.2%) and 4,457 females (49.8%); 301 newborns presented low birth weight (3.4%). The mean weight differed between males (3281.0 g) and females (3146.4 g) (P < 0.001). Exposure to ozone was significantly associated with low birth weight in both sexes in the 30-day window (odds ratio, OR = 1.38) and 90-day window (OR = 1.48); and among females, in the 30-day window (OR = 1.58) and 90-day window (OR = 1.59). Exposure to particulate matter had a paradoxical protective effect. No association was found among male newborns. CONCLUSIONS: Female newborns showed greater susceptibility to maternal exposure to air pollutants. Studies on low birth weight in relation to maternal exposure to air pollutants should deal with males and females separately.
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Kido, Jun, Shirou Matsumoto, and Kimitoshi Nakamura. "Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia." Case Reports in Pediatrics 2020 (March 9, 2020): 1–5. http://dx.doi.org/10.1155/2020/4709548.
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Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ failure or even death, if untreated. A neonate with PA recovered from the first metabolic crisis 3 days after birth but developed a second metabolic crisis during the recovery phase. This patient was considered to have severe PA and was accordingly given carglumic acid treatment in combination with carnitine supplementation and protein restriction, which was expected to prevent a recurrent metabolic attack. The patient did not develop hyperammonemia after receiving carglumic acid and was never hospitalized. Moreover, she did not present with acidosis even during viral infection. At 26 months of age, she led a stable life while receiving carglumic acid and regular rehabilitation. Carglumic acid treatment in combination with carnitine supplementation and protein restriction prevented metabolic decompensation, which would have otherwise required hospitalization, and resulted in improved quality of life and developmental outcomes.
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Sankaran, Deepika, Heather Siefkes, Frank F. Ing, Satyan Lakshminrusimha, and Francis R. Poulain. "Critical Congenital Heart Disease Detection in the Screening Era: Do Not Neglect the Examination!" American Journal of Perinatology Reports 11, no. 02 (2021): e84-e90. http://dx.doi.org/10.1055/s-0041-1727275.
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AbstractPulse oximetry oxygen saturation (SpO2)-based critical congenital heart disease (CCHD) screening is effective in detection of cyanotic heart lesions. We report a full-term male infant with normal perfusion who had passed the CCHD screening at approximately 24 hours after birth with preductal SpO2 of 99% and postductal SpO2 of 97%. Detection of a loud systolic cardiac murmur before discharge led to the diagnosis of pulmonary atresia (PA) with ventricular septal defect (PA-VSD) by echocardiogram. The infant was transferred to a tertiary care center after initiation of prostaglandin E1 (PGE1) therapy. Throughout the initial course, he was breathing comfortably without respiratory distress or desaturations on pulse oximetry. We believe that this is the first documented report of PA missed by CCHD screening. Thorough and serial clinical examinations of the newborn infant proved vital in the timely diagnosis of this critical disease. We review the hemodynamics and the recent literature evaluating utility of CCHD screening in the diagnosis of PA-VSD. Pulse oximetry–based CCHD screening should be considered a tool to enhance CCHD detection with an emphasis on detailed serial physical examinations in newborn infants.
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Tokhtabayeva, Shaizada. "Image of a Blacksmith in the Traditional World View of Kazakhs in 19th – first Half of 20th Centuries." Przegląd Wschodnioeuropejski 10, no. 2 (2019): 263–69. http://dx.doi.org/10.31648/pw.5479.
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The article analyzes the multi-faceted personality of the Kazakh blacksmith in ethnotraditional perception compared with the culture of other nations. Such parameters as birth and “magical” diversion of hereditary gift, professional etiquette and the social status of the blacksmith have been considered. The attention has been paid to such qualities of the blacksmith as spiritual self-control, lack of greed, strength and nobility of character. The mentioned is justified by the idea that the moral defects of a master can enter into conflict with his sacred activities which could lead his family to misfortune.
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Edris, Yunus, Hanan Abdurahman, Assefa Desalew, and Fitsum Weldegebreal. "Neural Tube Defects and Associated Factors among Neonates Admitted to the Neonatal Intensive Care Units in Hiwot Fana Specialized University Hospital, Harar, Ethiopia." Global Pediatric Health 7 (January 2020): 2333794X2097421. http://dx.doi.org/10.1177/2333794x20974218.
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Background: Neural tube defects are a major public health problem and substantially contribute to morbidity and mortality, particularly in low-income countries, including Ethiopia. There are a paucity of data on the magnitude and associated factors of neural tube defects in Ethiopia, particularly in the study setting. Objective: This study aimed to assess the magnitude of neural tube defects and associated factors among neonates admitted to the neonatal intensive care unit in Hiwot Fana Specialized University Hospital, Harar, Ethiopia. Methods: A hospital-based cross-sectional study was employed from October 2019 to January 2020. A total of 420 newborn-mother pairs were included consecutively. Data were collected using a face-to-face interviewer-administered questionnaire and clinical examination. Data were entered into Epi Data version 3.1 and analyzed using the statistical package for Social Sciences version 20.0 software. An adjusted odds ratio (AOR) with 95% confidence interval (CI) was used to identify the associated factors. A p-value <.05 was considered statistically significant. Results: The magnitude of neural tube defects was 5.71% (95% CI: 3.5-7.9). Approximately 83.5% of infants had spinal bifida and 16.5% anencephaly. In multivariable logistic regression analyses, preterm birth (32-34 weeks) (AOR= 3.84; 95% CI: 2.1,10.7), low birth weight (1000-1500 g) (AOR = 4.74; 95% CI: 1.8, 9.1), 1500-2500 g (AOR = 3.01; 95% CI: 2. 1, 13.2), maternal coffee consumption (AOR = 11.2; 95% CI: 3.1, 23.7), a history of abortion or stillbirth (AOR = 9.6; 95% CI:7.6,19.4), radiation exposure (AOR = 5.0; 95% CI:1.6,14.3), and intake of anticonvulsant drugs during pregnancy (AOR = 4.75; 95% CI: 1.5,16.2) were factors associated with neural tube defects. Conclusion: In this study, the burden of neural tube defects was 5.71% among neonates admitted to the neonatal intensive care unit, which was a public health concern. Increased attention to the monitoring of neural tube defects in eastern Ethiopia is crucial to improve birth outcomes in the study setting.
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Bugajski, Marek. "Use of proton-pump inhibitors in early pregnancy and the risk of birth defects – summary and commentary." Medycyna Faktów 13, no. 4 (2020): 457–59. http://dx.doi.org/10.24292/01.mf.0420.11.
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Decision on drug usage during pregnancy is always a balancing between benefits and risks for pregnancy and for the fetus. Proton pump inhibitors are widely used for treatment of gastroesophageal reflux disease, which is also quite prevalent in pregnant women, especially during first trimester. Proton pump inhibitor safety during pregnancy is widely discussed for many years. Article published in “New England Journal of Medicine” in 2010 is considered as one of the most important research papers in this topic. The risk of birth defects in children of women using proton pump inhibitors during pregnancy was analysed basing on national medical registries. Authors show that there is no risk increase in comparison to general population, however in the commentary methodological considerations are discussed, allowing for informed results interpretation.
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Sampieri, Clara Luz, and Hilda Montero. "Breastfeeding in the time of Zika: a systematic literature review." PeerJ 7 (February 19, 2019): e6452. http://dx.doi.org/10.7717/peerj.6452.
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Background The disease Zika is considered as emergent. The infection can be acquired through different routes: a bite from the Aedes mosquito, sexual contact, from mother to child during pregnancy and by blood transfusion. The possibility of Zika transmission through human lactation has been considered. Zika is a disease of great concern for public health because it has been associated with neonatal and postnatal microcephaly, among other birth defects. Objectives To review published evidence of the probable transmission of Zika through human lactation. Data sources Electronic databases: Cochrane Central Register of Controlled Trials, EBSCO, Gale, Science Direct, Scopus, US National Library of Medicine (PubMed) and Web of Science. World Health Organization and Centers for Disease Control and Prevention web pages. Study eligibility criteria To be eligible, studies of any design had to provide primary data of human breast milk as a potential fluid for the transmission of Zika, or primary or secondary follow-up data of infants with at least one previous published study that complied with the first criterion of eligibility. Participants Studies about women with suspected, probable or confirmed Zika during pregnancy, or the postnatal period and beyond. Studies about infants who breastfeed directly from the breast or where fed with the expressed breast milk of the suspected, probable or confirmed women with Zika. Results This study only chose data from research papers; no patients were taken directly by the authors. A total of 1,146 were screened and nine studies were included in the qualitative synthesis, from which a total of 10 cases were identified, with documented follow-up in three of these cases. Through the timing of maternal Zika infection, five cases were classified as prenatal (time before delivery), one as immediate postnatal (period from 0 to 4 days after birth); no cases were classified as medium postnatal (period from 5 days to 8 weeks after birth); two were classified as long postnatal (period from 8 weeks to 6 months after birth) and two as beyond six months after birth. Conclusion Human milk may be considered as a potentially infectious fluid, but we found no currently documented studies of the long-term complications in infants up to 32 months of age, with suspected, probable or confirmed Zika through human lactation, or evidence with respect to the human pathophysiology of the infection acquired through human lactation. In the light of the studies reviewed here, the World Health Organization recommendation of June 29th 2016, remains valid: “the benefits of breastfeeding for the infant and mother outweigh any potential risk of Zika virus transmission through breast milk.”
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Ferentzi, Hannah, Constanze Pfitzer, Lisa-Maria Rosenthal, Felix Berger, and Katharina R. L. Schmitt. "Long-term early development research in congenital heart disease (LEADER-CHD): a study protocol for a prospective cohort observational study investigating the development of children after surgical correction for congenital heart defects during the first 3 years of life." BMJ Open 7, no. 12 (2017): e018966. http://dx.doi.org/10.1136/bmjopen-2017-018966.
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IntroductionCongenital heart disease (CHD) is the most common birth defect. Studies on the development of children with CHD point towards deficits in motoric, cognitive and language development. However, most studies are cross-sectional and there is a gap in the knowledge concerning developmental trajectories, risk and protective factors and a lack of research concerning environmental predictors. Specifically, no studies have so far considered the importance of early caregiving experiences and child temperament for the development of children with CHD.MethodsIn a single-centre prospective cohort study, cognitive, motoric and language development of 180 children after corrective surgery for a simple transposition of the great arteries (TGA), tetralogy of Fallot (TOF) or ventricular septal defect (VSD) will be assessed at ages 12, 24 and 36 months with the Bayley Scales of Infant Development 3rd Edition (BSID-III). At age 12 months, a free-play video observation will be conducted to investigate the relationship between primary caregiver and child, and child temperament will be assessed with the Infant Behavior Questionnaire—Revised Short Version. Medical information will be obtained from patient records and demographic information via questionnaires.AnalysisFrequency and severity of developmental delays will be reported descriptively. Differences between groups (TGA, TOF, VSD) will be subjected to repeated-measures analysis across time points. Multiple regressions will be applied for the analysis of predictors at each time point. For the analysis of differential developmental trajectories, mixed-model analysis will be applied.Ethics and disseminationThe study has been approved by the local medical ethics committee. Written informed consent will be obtained from all participants. Parents have the option to be debriefed about BSID-III results after each assessment and about the study results after project completion. Results will be disseminated in peer-reviewed journals and presented at conferences.Trial registration numberDRKS00011006; Pre-results.