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Genetics and Molecular Research : GMR Oct 2014The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried... (Review)
Review
The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.
Topics: Chromosome Disorders; Female; Fetal Diseases; Humans; Karyotyping; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Sensitivity and Specificity
PubMed: 25366803
DOI: 10.4238/2014.October.31.27 -
Journal of Ovarian Research Jan 2023Ovarian absence is an uncommon condition that most frequently presents unilaterally. Several etiologies for the condition have been proposed, including torsion, vascular... (Review)
Review
Ovarian absence is an uncommon condition that most frequently presents unilaterally. Several etiologies for the condition have been proposed, including torsion, vascular accident, and embryological defect. A systematic review was conducted to describe the clinical presentation of ovarian absence, as well as its associations with other congenital anomalies, through a systematic search of Cochrane Library, ClinicalTrials.gov, Google Scholar, Ovid Embase, Ovid Medline, PubMed, Scopus, and Web of Science. Exclusion criteria included cases with suspicion for Differences of Sex Development, lack of surgically-confirmed ovarian absence, and karyotypes other than 46XX. Our search yielded 12,120 citations, of which 79 studies were included. 10 additional studies were found by citation chasing resulting in a total 113 cases including two unpublished cases presented in this review. Abdominal/pelvic pain (30%) and infertility/subfertility (19%) were the most frequent presentations. Ovarian abnormalities were not noted in 28% of cases with pre-operative ovarian imaging results. Approximately 17% of cases had concomitant uterine abnormalities, while 22% had renal abnormalities. Renal abnormalities were more likely in patients with uterine abnormalities (p < 0.005). Torsion or vascular etiology was the most frequently suspected etiology of ovarian absence (52%), followed by indeterminate (27%) and embryologic etiology (21%). Most cases of ovarian absence are likely attributable to torsion or vascular accidents, despite many references to the condition as "agenesis" in the literature. Imaging may fail to correctly diagnose ovarian absence, and diagnostic laparoscopy may be preferable in many cases as genitourinary anatomy and fertility considerations can be assessed during the procedure. Fertility is likely minimally or not affected in women with unilateral ovarian absence.
Topics: Humans; Female; Urogenital Abnormalities; Ovary; Uterus
PubMed: 36642704
DOI: 10.1186/s13048-022-01090-1 -
Expert Opinion on Drug Safety Dec 2014Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion.... (Review)
Review
INTRODUCTION
Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists.
AREAS COVERED
This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post hoc because of several previously published meta-analyses and commentaries on this medication.
EXPERT OPINION
The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: i) selection of appropriate study population; ii) ascertainment of antihistamine exposures; and iii) ascertainment of birth defect outcomes. Selected antihistamines have been very well studied (e.g., loratadine); others, especially H2-receptor antagonists, require additional study before an assessment of safety with respect to birth defect risk could be made.
Topics: Congenital Abnormalities; Female; Histamine Antagonists; Humans; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 25307228
DOI: 10.1517/14740338.2014.970164 -
Journal of Cataract and Refractive... Dec 2020As a rare congenital disease, microspherophakia (MSP) is characterized by small and spherically shaped crystalline lenses. The common complications of MSP include...
As a rare congenital disease, microspherophakia (MSP) is characterized by small and spherically shaped crystalline lenses. The common complications of MSP include secondary glaucoma and crystalline lens dislocation or subluxation. Patients with MSP often show high lenticular myopia. The special morphological characteristics and complex complications bring challenges to the treatment of patients with MSP. Although there are some studies on MSP, most are case reports. In this article, the morphological characteristics, complications, genetic diagnosis, and treatment of MSP were systematically reviewed, providing valuable insight into the clinical diagnosis and treatment of this disease.
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris; Lens Implantation, Intraocular; Lens Subluxation; Lens, Crystalline; Visual Acuity
PubMed: 32694307
DOI: 10.1097/j.jcrs.0000000000000334 -
Neuroradiology Feb 2015Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various... (Review)
Review
PURPOSE
Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification.
METHODS
We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics.
RESULTS
We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain.
CONCLUSION
Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies.
Topics: Humans; Magnetic Resonance Imaging; Mesencephalon; Nervous System Malformations; Neuroimaging; Rhombencephalon
PubMed: 25339235
DOI: 10.1007/s00234-014-1431-2 -
BMC Public Health Jun 2016A study in frog and chicken embryos, and reports of a high incidence of birth defects in regions of intensive GM-soy planting have raised concerns on the teratogenic... (Review)
Review
BACKGROUND
A study in frog and chicken embryos, and reports of a high incidence of birth defects in regions of intensive GM-soy planting have raised concerns on the teratogenic potential of glyphosate-based herbicides. These public concerns prompted us to conduct a systematic review of the epidemiological studies testing hypotheses of associations between glyphosate exposure and adverse pregnancy outcomes including birth defects.
METHODS
A systematic and comprehensive literature search was performed in MEDLINE, TOXLINE, Bireme-BVS and SCOPUS databases using different combinations of exposure and outcome terms. A case-control study on the association between pesticides and congenital malformations in areas of extensive GM soy crops in South America, and reports on the occurrence of birth defects in these regions were reviewed as well.
RESULTS
The search found ten studies testing associations between glyphosate and birth defects, abortions, pre-term deliveries, small for gestational date births, childhood diseases or altered sex ratios. Two additional studies examined changes of time-to-pregnancy in glyphosate-exposed populations. Except for an excess of Attention Deficit Hyperactivity Disorder - ADHD (OR = 3.6, 1.3-9.6) among children born to glyphosate appliers, no significant associations between this herbicide and adverse pregnancy outcomes were described. Evidence that in South American regions of intensive GM-soy planting incidence of birth defects is high remains elusive.
CONCLUSIONS
Current epidemiological evidence, albeit limited to a few studies using non-quantitative and indirect estimates and dichotomous analysis of exposures, does not lend support to public concerns that glyphosate-based pesticides might pose developmental risks to the unborn child. Nonetheless, owing to methodological limitations of existing analytical observational studies, and particularly to a lack of a direct measurement (urine and/or blood levels), or an indirect estimation of exposure that has proven valid, these negative findings cannot be taken as definitive evidence that GLY, at current levels of occupational and environmental exposures, brings no risk for human development and reproduction.
Topics: Abortion, Spontaneous; Agriculture; Case-Control Studies; Congenital Abnormalities; Environmental Exposure; Epidemiologic Studies; Female; Glycine; Herbicides; Humans; Incidence; Infant, Newborn; Male; Pregnancy; Pregnancy Outcome; South America; Glyphosate
PubMed: 27267204
DOI: 10.1186/s12889-016-3153-3 -
Journal of Vascular Surgery. Venous and... Jan 2020Percutaneous sclerotherapy is a commonly used modality for treatment of lymphatic malformations (LMs) of the head, face, and neck. The safety and efficacy of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Percutaneous sclerotherapy is a commonly used modality for treatment of lymphatic malformations (LMs) of the head, face, and neck. The safety and efficacy of sclerotherapy with various agents for diverse pathologic types of LMs have not been fully established. We present the results of a systematic review and meta-analysis examining the safety and efficacy of percutaneous sclerotherapy for treatment of LMs of the head, face, and neck.
METHODS
We searched PubMed, MEDLINE, and Embase from 2000 to 2018 for studies evaluating the safety and efficacy of percutaneous sclerotherapy of head, face, and neck LMs. Two independent reviewers selected studies and abstracted data. The primary outcomes were complete and partial resolution of the LM. Data were analyzed using random-effects meta-analysis.
RESULTS
There were 25 studies reporting on 726 patients included. The overall rate of complete cure of any pathologic type of LM after percutaneous sclerotherapy with any agent was 50.5% (95% confidence interval, 36.6%-64.3%). Macrocystic lesions had a cure rate of 53.1% compared with cure rates of 35.1% for microcystic lesions and 31.1% for mixed lesions. Regarding agents, doxycycline had the highest cure rate (62.4%) compared with all other agents. Overall permanent morbidity or mortality was 1.2% (95% confidence interval, 0.4%-2.0%) with no deaths. I values were >50% for most outcomes, indicating substantial heterogeneity.
CONCLUSIONS
Our systematic review and meta-analysis of 25 studies and >700 patients found that percutaneous sclerotherapy is a safe and effective modality for treatment of LMs of the head, neck, and face.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Head; Humans; Infant; Lymphatic Abnormalities; Lymphatic System; Male; Neck; Risk Assessment; Risk Factors; Sclerosing Solutions; Sclerotherapy; Treatment Outcome; Young Adult
PubMed: 31734224
DOI: 10.1016/j.jvsv.2019.09.007 -
BMJ Paediatrics Open Jul 2023To evaluate the pooled prevalence and identify risk factors of congenital anomalies among neonates in Africa. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the pooled prevalence and identify risk factors of congenital anomalies among neonates in Africa.
METHODS
The pooled birth prevalence of congenital anomalies was the first outcome of this review, and the pooled measure of association between congenital anomalies and related risk factors in Africa was the second. We conducted a thorough search of the databases PubMed/ Medline, PubMed Central, Hinary, Google, Cochrane Library, African Journals Online, Web of Science and Google Scholar up to 31 January 2023. The JBI appraisal checklist was used to evaluate the studies. STATA V.17 was used for the analysis. The I test and Eggers and Beggs tests were used to measure study heterogeneity and publication bias respectively. The pooled prevalence of congenital anomalies was calculated using DerSimonian and Laird random-effect model. Subgroup analysis, sensitivity analysis and meta-regression were also performed.
RESULT
This systematic review and meta-analysis includes 32 studies with a total of 626 983 participants. The pooled prevalence of congenital anomalies was 23.5 (95% CI 20 to 26.9) per 1000 newborns. Not taking folic acid (pooled OR=2.67; 95% CI (1.42 to 5.00)), history of maternal illness (pooled OR=2.44, 95% CI (1.2 to 4.94)), history of drug use (pooled OR=2.74, 95% CI (1.29 to 5.81)), maternal age (>35 years.) (Pooled OR=1.97, 95% CI (1.15 to 3.37)), drinking alcohol (pooled OR=3.15, 95% CI (1.4 to 7.04)), kchat chewing (pooled OR=3.34, 5% CI (1.68 to 6.65)) and urban residence (pooled OR=0.58, 95% CI (0.36 to 0.95)) were had significant association with congenital anomalies.
CONCLUSION
The pooled prevalence of congenital abnormalities in Africa was found to be substantial, with significant regional variation. Appropriate folate supplementation during pregnancy, proper management of maternal sickness, proper antenatal care, referring healthcare personnel before using drugs, avoiding alcohol intake and kchat chewing are all important in lowering the occurrence of congenital abnormalities among newborns in Africa.
Topics: Adult; Female; Humans; Infant, Newborn; Pregnancy; Africa; Congenital Abnormalities; Risk Factors
PubMed: 37429669
DOI: 10.1136/bmjpo-2023-002022 -
Maturitas Dec 2014To describe in practical terms the clinical management in adult life of patients with Turner syndrome. (Review)
Review
OBJECTIVE
To describe in practical terms the clinical management in adult life of patients with Turner syndrome.
MATERIAL & METHODS
Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014).
RESULTS
Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment.
CONCLUSIONS
This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients.
Topics: Adult; Aged; Disease Management; Female; Health Services for the Aged; Human Growth Hormone; Humans; Turner Syndrome
PubMed: 25438673
DOI: 10.1016/j.maturitas.2014.08.011 -
International Journal of Pediatric... Nov 2020To evaluate outcomes of injection laryngoplasty (IL) and endoscopic surgical repair for the treatment of type 1 laryngeal clefts (LC1) and to determine the most common... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate outcomes of injection laryngoplasty (IL) and endoscopic surgical repair for the treatment of type 1 laryngeal clefts (LC1) and to determine the most common presentations of LC1.
METHODS
Primary studies were searched for in PubMed, Scopus, OVID, and Cochrane Library using search terms laryngeal cleft and laryngotracheoesophageal cleft for articles published from database inception through August 2019. The search identified all articles pertaining to the symptomatology and management of LC1. Meta-analysis was performed on presenting symptoms and improvement of clinical symptoms and swallow function.
RESULTS
Twenty-four studies, comprising 713 patients with a mean age of 33.7 months (range 0-168 months), were included. The most common presenting symptoms were aspiration (80%, CI [55%-96%]), dysphagia (61%, CI [47%-74%]), and choking (57%, CI [37%-76%]). Gastroesophageal reflux disease (GERD) was the most common comorbidity (68%, CI [51%-83%]) and premature birth comprised 27% [21%-32%] of the patients. Overall, 38% of patients received IL as a primary therapy. Prior to injection, 91% [87%-94%] of patients aspirated on swallow evaluations, and 62% [55%-68%] aspirated post-injection. At an average follow-up time of 6.8 months, 90% [70%-100%] of parents reported symptom improvement. An additional 54% of patients underwent endoscopic surgical repair as primary treatment. The rate of aspiration decreased from 73% [43%-94%] to 28% [13%-46%] after repair. At a mean follow-up of 14.2 months, 80% [67%-91%] reported symptom improvement.
CONCLUSION
A high level of clinical suspicion is necessary to detect LC1 since its most common presenting symptoms overlap with other diseases commonly found in this patient population. Both IL and formal surgical repair were effective in managing LC1.
Topics: Adolescent; Child; Child, Preschool; Congenital Abnormalities; Deglutition Disorders; Humans; Infant; Infant, Newborn; Laryngoplasty; Larynx; Retrospective Studies
PubMed: 33152963
DOI: 10.1016/j.ijporl.2020.110370