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Journal articles on the topic 'Considered a birth defect'

Author: Grafiati

Published: 4 June 2021

Last updated: 3 February 2022

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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 mil

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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 heal

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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 6

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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 (t

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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 a

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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. Countri

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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 frequen

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8

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

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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. Different

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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 o

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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 n

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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

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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 the

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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 h

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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 aspe

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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. Surg

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17

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 nonepi

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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 ab

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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 stud

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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 support

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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

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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 consequence

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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 an

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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 i

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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 wh

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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 a

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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 char

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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 05

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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. Majo

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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-s

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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 us

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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

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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 defe

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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 r

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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

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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 Pak

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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

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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, correct

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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

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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-sec

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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. Th

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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 dioxid

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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

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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 (P

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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

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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 employ

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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 pre

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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: Cochr

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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 coho

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