Differential diagnoses of circumscribed and diffuse hyperpigmentation
Dimitris Rigopoulos, Alexander C. Katoulis in Hyperpigmentation, 2017
The inevitably posed second question is whether the lesion was present at birth. If it is congenital, and therefore apparent from the first day of life, the differential diagnosis is rather easy. If it was not present at birth and appeared during infancy, childhood, adolescence, or adulthood, it is usually classified as acquired. The hyperpigmented lesions that exist at birth but are not clinically apparent are classified by scientific literature as either acquired or congenital. This group of lesions includes inherited conditions, hamartomas, or some types of nevi, which become evident later in life. They are attributed to congenital disorders after the diagnosis is made, and therefore are retrospectively considered congenital.
Carbohydrate and glycosylation disorders
Steve Hannigan in Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
In some countries this disorder is screened for as part of a newborn screening programme for congenital disorders. Depending on the screening methods used, the enzyme itself (GALT) or the concentration of galactose in the blood may be measured. The inding of GALT deiciency will conirm classical galactosaemia. Measurement of galactose levels will detect cases of galactokinase deiciency and epimerase deiciency as well as classical galactosaemia. The inding of excess galactose in the blood should be followed by measurement of GALT activity. Galactokinase deiciency and epimer-ase deficiency must be considered if GALT activity is normal in an infant with elevated galactose levels.
Abortion in the Hard Cases
Gary Seay, Susana Nuccetelli in Engaging Bioethics, 2017
Congenital disorders or anomalies are health impairments present at birth. Some produce long-term disabilities that impact not only the infants and their families, but also the health care system and society at large. They range from mild to severe. According to the World Health Organization (see also Figure 12.2), in 2014 approximately one neonate in 33 had a congenital disorder, totaling 3.2 million neonates globally. Together with conditions such as preterm complications and neonatal infections, they accounted for 2.7 million infant deaths in 2010.
The safety of metronidazole in pregnancy
Published in Health Care for Women International, 2021
Ozioma C. Nwosu, Kathaleen Bloom
On February 2, 2018, a search of PubMed and ProQuest was conducted using “peer review” and “English” as limiters. Keyword, Boolean and MeSH searching included the following terms: Newborn OR Infant OR Neonate OR Fetus (Line 1) AND, Maternal OR Mother OR pregna* (line 2) AND, Metronidazole OR Flagyl (line 3) AND, Congenital abnormality OR Congenital Anomaly OR Congenital disorder OR Fetal anomaly OR fetal defect (line 4). Only 3 articles were ultimately selected for inclusion in the review. One of the articles was a systematic review (Sheehy et al., 2015). A replication of their search strategies failed to uncover any studies that were not previously analyzed. Two articles by Muanda and colleagues were found by a third party. One of these articles (Muanda et al., 2017) addressed the link between antibiotic use during pregnancy and the risk of spontaneous abortion. The other addressed the link between antibiotic use in pregnancy and the risk of major congenital malformations. However, metronidazole was not one of the antibiotics considered so this study was excluded. Figure 1 depicts the flow of the search.
MiR-23b targets GATA6 to down-regulate IGF-1 and promote the development of congenital heart disease
Published in Acta Cardiologica, 2022
Guo-Jin Huang, Xue-Liang Xie, Yong Zou
Congenital heart disease is the most common birth defect. The process of heart development involves the spatiotemporal specific expression of many related genes and the activation and precise regulation of many signal pathways (such as Notch, Wnt, and BMP pathway) to ensure the correct migration, proliferation, and differentiation of cardiomyocytes [24–26]. Abnormalities in any link of heart development will lead to the occurrence of CHD. MiR-23b possesses a variety of cellular functions, inclusive of cell proliferation, differentiation, and migration. Although studies have shown that the expression of miR-23b in the myocardium of CHD patients is up-regulated and may affect cardiomyocyte proliferation and apoptosis, the specific mechanism has not been elucidated before. In this research, we demonstrated that miR-23b can affect cardiomyocyte proliferation and apoptosis by regulating the expression of downstream genes.
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss
Published in International Journal of Audiology, 2019
Christine D’Aguillo, Sara Bressler, Denise Yan, Rahul Mittal, Robert Fifer, Susan H. Blanton, Xuezhong Liu
Genetic screening for congenital disorders in infants is not a novel concept in the U.S. In most states, genetic testing is already provided for rare disorders identified by the US Department of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children. Twenty-nine hereditary disorders have been mandated by the American College of Medical Genetics, and individual states may add additional newborn screening for rare disorders based on their unique populations. None of the mandated disorders are present with the frequency of congenital HL. Although screening for these hereditary disorders does not use the same genetic testing technology that would be used if the current UNHS was expanded to include genetic screening, the concept of screening for genetic disorders is not unique and an expansion of the scope of hereditary screening would be both feasible and worthwhile.
Related Knowledge Centers
- Childbirth
- Chromosome Abnormality
- Degenerative Disease
- Developmental Disability
- Disability
- Intellectual Disability
- Metabolic Disorder
- Physical Disability
- Functional Disorder
- Genetic Disorder