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Relevant bibliographies by topics / Congenital anomalies metabolism

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Academic literature on the topic 'Congenital anomalies metabolism'

Author: Grafiati

Published: 28 May 2022

Last updated: 29 May 2022

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Journal articles on the topic "Congenital anomalies metabolism"

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Mazahir, Fatima Ali, and Manal Mustafa Khadora. "A retrospective analysis of congenital anomalies in congenital hypothyroidism." Journal of Pediatric Endocrinology and Metabolism 33, no. 9 (September 25, 2020): 1147–53. http://dx.doi.org/10.1515/jpem-2020-0250.

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AbstractObjectivesWe evaluated the spectrum of diseases accompanying congenital hypothyroidism (CH) in the United Arab Emirates and compared them with internationally studied patterns.MethodsThe presented retrospective cross-sectional study took place in two government tertiary care centres. In total, 204 patients with a confirmed diagnosis of CH and a minimum period of follow-up of 1 year were included. Patients with Down syndrome, infants born at <35 weeks of gestation, and babies with TORCH (Toxoplasma gondii, Other viruses [HIV, measles, etc.], Rubella, Cytomegalovirus, and Herpes simplex) infections were subsequently excluded from the study.ResultsOf the subjects with CH, 39% had associated extrathyroidal anomalies (ETAs); among these, 25% had a single anomaly. A significant proportion of Arab males were affected by CH as compared to other ethnic groups. Dyshormonogenesis was the commonest aetiological cause (55%) of CH. Males with an ectopic lingual thyroid gland had significant ETAs as compared to females of the same cohort. The most common ETAs were congenital heart disease (16%), followed by urogenital tract anomalies (14%).ConclusionsDetection of a high rate and variability of ETAs associated with CH necessitates the formulation of a structured screening programme including appropriate clinical, laboratory, and imaging tools to detect ETAs at an earlier stage.

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Dude, Annie M., Nevert Badreldin, Amanda Schieler, and Lynn M. Yee. "Periconception glycemic control and congenital anomalies in women with pregestational diabetes." BMJ Open Diabetes Research & Care 9, no. 1 (April 2021): e001966. http://dx.doi.org/10.1136/bmjdrc-2020-001966.

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IntroductionTo assess the relationship between periconception glycemic control and congenital anomalies in a contemporary, diverse population of women with pregestational diabetes.Research design and methodsThis is a retrospective cohort study of all pregnant women with pregestational diabetes at a single institution (2003–2017) in the USA. The primary outcome was frequency of major or minor congenital anomalies. Glycemic control was assessed by periconception glycosylated hemoglobin (HbA1c). The association of periconception HbA1c with pregnancy outcomes was assessed using bivariable and multivariable analyses.ResultsOur sample included 351 women, of which 63.8% had type 2 diabetes. Our study cohort is racially and ethnically diverse, with approximately equal numbers of women identifying as white non-Hispanic, black non-Hispanic and Hispanic, with 3.4% identifying as Asian. Of these 351 women, 52 (14.8%) had a fetus with a congenital anomaly, of whom the majority (n=43) had a major anomaly. Over half (51.1%) of all major anomalies were cardiovascular. Compared with the group with the best glycemic control (HbA1c ≤7.4%), which had an anomaly frequency of 10.2%, the frequency of congenital anomalies increased significantly with each category of worsening glycemic control (HbA1c 7.5%–9.4%: 20.6%, adjusted OR (aOR) 2.35, 95% confidence interval (CI) 1.08 to 5.13; HbA1c 9.5% to 11.4%: 25.8%, aOR 2.86, 95% CI 1.08 to 7.59; HbA1c ≥11.5%: 37.5%, aOR 7.66, 95% CI 2.27 to 25.9).ConclusionIn a diverse cohort of women with pregestational diabetes, higher periconception HbA1c, especially HbA1c >9.5, was significantly associated with major congenital fetal anomalies. Our study sample is reflective of the current population of pregnant women with diabetes, including women with type 2 diabetes and from racial and ethnic minorities.

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Koch, Linda. "Maternal weight linked to congenital anomalies in offspring." Nature Reviews Endocrinology 6, no. 8 (August 2010): 418. http://dx.doi.org/10.1038/nrendo.2010.102.

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Dodd, Jodie M., and Clare L. Whitehead. "Maternal obesity and congenital anomalies — risk and diagnosis." Nature Reviews Endocrinology 13, no. 9 (August 4, 2017): 504–6. http://dx.doi.org/10.1038/nrendo.2017.100.

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Mafruchati, Maslichah, Mas’ud Harijadi, Widjiati Widjiati, and Boerhan Hidayat. "The Potency of ∆F 508-T Gen Mutant the Coding of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) As Prototype at the Congenital Bilateral Absence of Vas Deferens (CBAVD) Disease in Indonesia." KnE Life Sciences 3, no. 6 (December 3, 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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Al-Juraibah, Fahad, Angela Lucas-Herald, Rachael Nixon, Christine Toka, Cunyi Wang, Martyn Flett, Stuart O'Toole, and S. Faisal Ahmed. "Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome." Sexual Development 13, no. 2 (2019): 67–73. http://dx.doi.org/10.1159/000497260.

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Diamond, Michael P., Sheron L. Salyer, Frank H. Boehm, and William K. Vaughn. "Congenital Anomalies in Offspring of Insulin-Dependent Diabetic Mothers." Diabetes Educator 12, no. 3 (June 1986): 272–76. http://dx.doi.org/10.1177/014572178601200305.

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Borsari, Lucia, Carlotta Malagoli, Martha M. Werler, Kenneth J. Rothman, Marcella Malavolti, Rossella Rodolfi, Gianfranco De Girolamo, Fausto Nicolini, and Marco Vinceti. "Joint Effect of Maternal Tobacco Smoking and Pregestational Diabetes on Preterm Births and Congenital Anomalies: A Population-Based Study in Northern Italy." Journal of Diabetes Research 2018 (June 28, 2018): 1–7. http://dx.doi.org/10.1155/2018/2782741.

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Smoking and pregestational diabetes (PGD) are recognized risk factors for adverse pregnancy outcomes, but to date, no population-based study has investigated their joint effects. Using hospital discharges, we identified all women with PGD delivering in Emilia-Romagna region during 2007–2010 matched 1 : 5 with parturients without diabetes. Our study endpoints were preterm births and congenital anomalies. We measured interaction between PGD and maternal smoking, by calculating excess prevalence and prevalence ratio due to interaction, relative excess risk due to interaction (RERI), attributable proportion (AP), and the synergy index (S). Analyses were performed in the overall study population and in the subgroup whose PGD was validated through diabetes registers. The study included 992 women with PGD (10.5% smokers) and 4788 comparison women (11.9% smokers). The effects of PGD and maternal tobacco smoking were greater than additive for both preterm birth (excess prevalence due to interaction = 11.7%, excess ratio due to interaction = 1.5, RERI = 2.39, AP = 0.51, S = 2.82) and congenital anomalies (excess prevalence due to interaction = 2.2%, excess ratio due to interaction = 1.3, RERI = 1.33, AP = 0.49, S = 5.03). Joint effect on both endpoints was confirmed in the subgroup whose PGD status was validated. In conclusion, we found that maternal tobacco smoking and PGD intensify each other’s effect on preterm birth and congenital anomalies.

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Cohen, Arnold, and Geeta Chhibber. "Obstetric Complications of Congenital Anomalies of the Paramesonephric Ducts." Seminars in Reproductive Medicine 4, no. 01 (February 1986): 59–65. http://dx.doi.org/10.1055/s-2007-1022485.

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El Kholy, Mohamed, Marwa E. Fahmi, Ayman E. Nassar, Samia Selim, and Heba H. Elsedfy. "Prevalence of Minor Musculoskeletal Anomalies in Children with Congenital Hypothyroidism." Hormone Research in Paediatrics 68, no. 6 (2007): 272–75. http://dx.doi.org/10.1159/000104175.

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Dissertations / Theses on the topic "Congenital anomalies metabolism"

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Chambers, Christina D. "Undiagnosed maternal diabetes or impaired glucose metabolism and risk for congenital anomalies /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2002. http://wwwlib.umi.com/cr/ucsd/fullcit?p3064452.

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Редько, Олена Костянтинівна, Елена Константиновна Редько, Olena Kostiantynivna Redko, М. А. Ващенко, Л. В. Орехова, Н. В. Денисенко, and О. И. Мошик. "Общая клиническая характеристика врожденных дефектов метаболизма в неонатальном периоде." Thesis, Издательство СумГУ, 2012. http://essuir.sumdu.edu.ua/handle/123456789/27455.

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Favrie, Didier. "Disproportion congenitale des fibres : a propos d'une observation associee a une cardiomyopathie hypertrophique localisee et a des anomalies du metabolisme de la carnitine." Université Louis Pasteur (Strasbourg) (1971-2008), 1985. http://www.theses.fr/1985STR1M173.

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Books on the topic "Congenital anomalies metabolism"

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Kleinman, Ronald E., and Frank R. Greer, eds. Pediatric Nutrition (Sponsored Member Benefit). 7th ed. American Academy of Pediatrics, 2013. http://dx.doi.org/10.1542/9781581108606.

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The new 7th edition provides the latest information about nutrient metabolism and nutrition to support the normal development and health of infants and children who are well, those born with congenital anomalies or disorders of metabolism, and those with acute and chronic illnesses. Contents include: - The latest evidence-based guidelines on feeding healthy infants and children - Current policies and practice recommendations from the AAP Committee on Nutrition - Several new chapters and appendices have been added, including chapters on school and daycare nutrition; gene and nutrient interaction; and metabolic programming. - Recent advances and developments on topics that arise frequently in pediatric practice: breastfeeding, fast foods, vegetarian diets, persistent newborn diarrhea, preterm infant nutrition needs, chronic obesity, vitamin supplementation, and more - Appendices of more than 50 tables including dietary allowances, energy requirements, composition of human milk and infant formulas, MyPlate, and more - More than 20 growth charts for very low and low birth weights; full-term infants, children, and adolescents; down syndrome; and more - Updated listings of resources for you and your patients, including printed materials, government agencies and Web sites

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Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.

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Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

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Book chapters on the topic "Congenital anomalies metabolism"

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Bennett, Peter H., Caryll Webner, and Max Miller. "Congenital Anomalies and the Diabetic and Prediabetic Pregnancy." In Ciba Foundation Symposium 63 - Pregnancy Metabolism, Diabetes and the Fetus, 207–25. Chichester, UK: John Wiley & Sons, Ltd., 2008. http://dx.doi.org/10.1002/9780470720462.ch10.

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Clark, Robin D., and Cynthia J. Curry. "Hypotonia." In Genetic Consultations in the Newborn, edited by Robin D. Clark and Cynthia J. Curry, 3–10. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0001.

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This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of the multiple disorders causing congenital hypotonia. The differential diagnosis of various types of hypotonic syndromes includes chromosome anomalies, metabolic myopathies, peroxisomal disorders, brain malformations, congenital lower motor neuron diseases, hypoxic ischemic encephalopathy, congenital disorders of glycosylation, and multiple congenital anomaly single gene syndromes such as Kabuki syndrome and Bohring-Opitz syndrome. Recommendations for evaluation and management include discussion of key neurologic findings in the physical exam, biochemical and other laboratory screening, targeted single gene testing, panels for clinically heterogeneous disorders and exome sequencing. The clinical consult features an infant with congenital myotonic dystrophy.

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Vafaei-Nezhad, Saeed, Masood Vafaei-Nezhad, Mehri Shadi, and Samira Ezi. "The Impact of Diabetes on Hippocampus." In Hippocampus - New Advances [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.99895.

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Maternal Diabetes is one of the most common metabolic disorders resulting an increased risk of abnormalities in the developing fetus and offspring. It is estimated that the prevalence of diabetes during pregnancy among women in developing countries is approximately 4.5 percent and this range varies between 1 to 14 percent in different societies. According to earlier studies, diabetes during pregnancy is associated with an increased risk of maternal and child mortality and morbidity as well as major congenital anomalies including central nervous system (CNS) in their offspring. Multiple lines of evidence have suggested that infants of diabetic women are at risk of having neurodevelopmental sequelae. Previous studies reveal that the offspring of diabetic mothers exhibit disturbances in behavioral and intellectual functioning. In the examination of cognitive functioning, a poorer performance was observed in the children born to diabetic mothers when compared with the children of non-diabetic mothers. Therefore, it is important to study the possible effects of maternal diabetes on the hippocampus of these infants.

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Joly, D., and J. P. Grünfeld. "Renal involvement in genetic disease." In Oxford Textbook of Medicine, edited by John D. Firth, 5065–73. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0502.

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There are more than 200 inherited disorders in which the kidney is affected and which display a wide range of renal features. Autosomal dominant polycystic kidney disease— affects about 1/1000 individuals and accounts for 7% of cases of endstage renal failure in Western countries. Inheritance is autosomal dominant, with mutations in polycystin 1 responsible for 75% of cases and mutations in polycystin 2 accounting for most of the remainder. May present with renal pain, haematuria, urinary tract infection, or hypertension, or be discovered incidentally on physical examination or abdominal imaging, or by family screening, or after routine measurement of renal function. Commonly progresses to endstage renal failure between 40 and 80 years of age. Main extrarenal manifestations are intracranial aneurysms, liver cysts, and mitral valve prolapse. Alport’s syndrome—X-linked dominant inheritance in 85% of kindreds, with molecular defects involving the gene encoding the α‎-5 chain of the type IV collagen molecule. Males typically present with visible haematuria in childhood, followed by permanent nonvisible haematuria, and later by proteinuria and renal failure. Extrarenal manifestations include perceptive deafness of variable severity and ocular abnormalities. Carrier women often have slight or intermittent urinary abnormalities, but may develop mild impairment of renal function late in life, and a few develop endstage renal disease. In the autosomal recessive form of Alport’s syndrome, renal disease progresses to endstage before 20 to 30 years of age at a similar rate in both affected men and women. Other disorders covered in this chapter include hereditary tubulointerstitial nephritis, hereditary tumours, glomerular structural diseases, metabolic diseases with glomerular involvement (Fabry’s disease), congenital anomalies of the kidney and urinary tract, and other genetic diseases with kidney involvement.

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