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Advances in Clinical and Experimental... Apr 2020The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and... (Review)
Review
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Uterus; Vagina
PubMed: 32348039
DOI: 10.17219/acem/118850 -
Pediatrics and Neonatology Apr 2017With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers... (Review)
Review
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates. Next-generation sequencing is increasingly being used for noninvasive prenatal diagnosis, and it may become an essential component of newborn screening. This review will define some basic genetic terms and concepts, explain the gamut of genetic testing available for early diagnosis of genetic diseases, and describe some common chromosomal abnormalities, genomic disorders, and single-gene diseases relevant to neonatal medicine.
Topics: Chromosome Aberrations; Congenital Abnormalities; Early Diagnosis; Genetic Testing; Humans; Infant, Newborn; Microarray Analysis; Mitochondrial Diseases; Neonatal Screening; Neonatology; Sequence Analysis
PubMed: 28277305
DOI: 10.1016/j.pedneo.2016.07.002 -
BMJ Case Reports May 2015
Topics: 46, XX Disorders of Sex Development; Amenorrhea; Congenital Abnormalities; Female; Humans; Magnetic Resonance Imaging; Mullerian Ducts; Young Adult
PubMed: 25979964
DOI: 10.1136/bcr-2015-210187 -
Cold Spring Harbor Molecular Case... Oct 2020Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of... (Review)
Review
Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies-particularly if modifiable causes may be identified or pre- or postnatal treatments can be offered. Recent research has begun to reveal the spectrum of monogenic disorders that commonly result in birth defects, and newer approaches have revealed non-Mendelian genetic contributions including gene-environment interactions. Our experience suggests that increased efforts to sequence and analyze cases of perinatal death, as well as continued global collaboration, will be essential in understanding the genomic landscape of structural anomalies.
Topics: Congenital Abnormalities; Family Characteristics; Female; Humans; Infant; Pregnancy
PubMed: 32826208
DOI: 10.1101/mcs.a005504 -
Urologia Internationalis 2022The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus...
INTRODUCTION
The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus happens. They are an infrequent condition. Incidence is estimated to be between 5,000 and 8,000 live births. Its diagnosis and management remain a challenge due to the lack of an specific clinical picture and the controversy about the management.
OBJECTIVE
The objective of this study is to assess the clinical presentation, diagnosis, therapeutic management, and outcomes of urachal anomalies in our health area.
MATERIALS AND METHODS
We performed a retrospective review of all cases of urachal anomalies recorded Tenerife (southern health area), La Gomera, and El Hierro Islands during a 5 year period.
RESULTS
Twenty-three cases of urachal pathology were included. The mean age of presentation was 32 years old. 73.9% were male. 65% were diagnosed in adults. In 30.3% of the cases, it was a casual finding. Symptoms included fever, umbilical exudate, hematuria, abdominal pain, and umbilical granuloma. The main diagnostic tests were ultrasound and computed tomography scan. Treatments were selected conservative management (43.5%), selective resection, partial cystectomy, and radical cystectomy. All patients had a good evolution. However, 2 cases where benign tumors were suspected, clinically, had a final histology of cancer in the specimen.
CONCLUSIONS
Due to the lack of a specific clinical picture and undefined findings in image tools, diagnosis is difficult and it may be inaccurate. Despite more data are needed, our results suggest that the systematic excision of urachal lesions could result in safer outcomes since cases where a benign lesion is clinically suspected might result in malignant tumors.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Urachus; Young Adult
PubMed: 33957634
DOI: 10.1159/000515648 -
Clinics in Perinatology Jun 2015In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies... (Review)
Review
In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these types of genomic variants play in human disease and their high frequency in ∼ 1% of all pregnancies. This article highlights key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Early diagnosis and accurate interpretation are important for targeted clinical management.
Topics: Aneuploidy; Congenital Abnormalities; DNA Copy Number Variations; Genetic Testing; Genome, Human; Humans; Infant, Newborn
PubMed: 26042902
DOI: 10.1016/j.clp.2015.03.001 -
Cellular and Molecular Life Sciences :... Mar 2018Gene regulatory networks, in which differential expression of regulator genes induce differential expression of their target genes, underlie diverse biological processes... (Review)
Review
Gene regulatory networks, in which differential expression of regulator genes induce differential expression of their target genes, underlie diverse biological processes such as embryonic development, organ formation and disease pathogenesis. An archetypical systems biology approach to mapping these networks involves the combined application of (1) high-throughput sequencing-based transcriptome profiling (RNA-seq) of biopsies under diverse network perturbations and (2) network inference based on gene-gene expression correlation analysis. The comparative analysis of such correlation networks across cell types or states, differential correlation network analysis, can identify specific molecular signatures and functional modules that underlie the state transition or have context-specific function. Here, we review the basic concepts of network biology and correlation network inference, and the prevailing methods for differential analysis of correlation networks. We discuss applications of gene expression network analysis in the context of embryonic development, cancer, and congenital diseases.
Topics: Animals; Congenital Abnormalities; Embryo, Mammalian; Embryonic Development; Gene Expression Profiling; Gene Expression Regulation, Developmental; Gene Expression Regulation, Neoplastic; Gene Regulatory Networks; High-Throughput Nucleotide Sequencing; Humans; Neoplasms; Signal Transduction; Single-Cell Analysis; Systems Biology; Transcriptome
PubMed: 29018868
DOI: 10.1007/s00018-017-2679-6 -
Anales de Pediatria Feb 2020
Topics: Congenital Abnormalities; Female; Humans; Infant; Kidney; Thorax
PubMed: 30773405
DOI: 10.1016/j.anpedi.2019.01.005 -
Toxicology and Applied Pharmacology May 2018Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as... (Review)
Review
Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as through consumption via residues in food and water. There is evidence from experimental studies that numerous pesticides, either in isolation or in combination, act as endocrine disruptors, neurodevelopmental toxicants, immunotoxicants, and carcinogens. We reviewed the international literature on this subject for the years between 1990 and 2017. The studies were considered in this review through MEDLINE and WHO resources. Out of the n = 1817 studies identified, n = 94 were reviewed because they fulfilled criteria of validity and addressed associations of interest. Epidemiological studies have provided limited evidence linking pre- and post-natal exposure to pesticides with cancers in childhood, neurological deficits, fetal death, intrauterine growth restriction, preterm birth, and congenital abnormalities (CAs). In this review, the potential association between pesticide exposure and the appearance of some human CAs (including among others musculoskeletal abnormalities; neural tube defects; urogenital and cardiovascular abnormalities) was investigated. A trend towards a positive association between environmental or occupational exposure to some pesticides and some CAs was detected, but this association remains to be substantiated. Main limitations of the review include inadequate exposure assessment and limited sample size. Adequately powered studies with precise exposure assessments such as biomonitoring, are warranted to clarify with certainty the potential association between pesticide exposure and human CAs.
Topics: Abnormalities, Drug-Induced; Animals; Congenital Abnormalities; Environmental Exposure; Humans; Occupational Exposure; Pesticides
PubMed: 29596925
DOI: 10.1016/j.taap.2018.03.025 -
Current Topics in Developmental Biology 2023Birth defects are relatively common congenital outcomes that significantly impact affected individuals, their families, and communities. Effective development and... (Review)
Review
Birth defects are relatively common congenital outcomes that significantly impact affected individuals, their families, and communities. Effective development and deployment of prevention and therapeutic strategies for these conditions requires sufficient understanding of etiology, including underlying genetic and environmental causes. Tremendous progress has been made in defining the genetic basis of familial and syndromic forms of birth defects. However, the majority of birth defect cases are considered nonsyndromic and thought to result from multifactorial gene-environment interactions. While substantial advances have been made in elucidating the genetic landscape of these etiologically complex conditions, significant biological and technical constraints have stymied progress toward a refined knowledge of environmental risk factors. Defining specific gene-environment interactions in birth defect etiology is even more challenging. However, progress has been made, including demonstration of critical proofs of concept and development of new conceptual and technical approaches for resolving complex gene-environment interactions. In this review, we discuss current views of multifactorial birth defect etiology, comparing them with other diseases that also involve gene-environment interactions, including primary immunodeficiency and cancer. We describe how various model systems have illuminated mechanisms of multifactorial etiology and these models' individual strengths and weaknesses. Finally, suggestions for areas of future emphasis are proposed.
Topics: Humans; Gene-Environment Interaction; Congenital Abnormalities
PubMed: 36707208
DOI: 10.1016/bs.ctdb.2022.10.001