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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were included. 10 additional studies were found by citation chasing resulting in a total 113 cases including two unpublished cases presented in this review.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 -
Clinical Oral Investigations Aug 2022To evaluate the association between orofacial clefts (OFC) and tooth abnormalities (TA). (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate the association between orofacial clefts (OFC) and tooth abnormalities (TA).
METHODS
We searched PubMed, Scopus, Web of Science, Cochrane Library, LILACS, and BBO, and in the gray literature and selected observational studies that evaluated the association between TA and OFC. The risk of bias was analyzed using the Newcastle-Ottawa Scale. A random-effects meta-analysis was performed comparing the presence and absence of OFC, cleft type-cleft palate (CP) and cleft lip with or without palate (CL/P)-and cleft laterality-unilateral and bilateral. The certainty of evidence was evaluated using the GRADE approach.
RESULTS
A total of 99 studies were included in the qualitative analysis, and 37 were included in the meta-analysis. Only four studies were classified as low risk of bias. Significant associations were observed between the presence of OFC and tooth agenesis (OR = 19.46; 95%CI = 4.99-75.96), supernumerary teeth (OR = 4.04; 95%CI = 1.26-12.99), developmental defects of enamel (OR = 3.15; 95%CI = 1.28-7.80), microdontia (OR = 15.57; 95%CI = 1.06-228.51), and taurodontism (OR = 1.74; 95%CI = 1.74-2.86). Individuals with CP had a lower frequency of supernumerary teeth (OR = 0.22; 95%CI = 0.08-0.64), peg-shaped tooth (OR = 0.31; 95%CI = 0.12-0.80), and morphological TA (OR = 0.13; 95%CI = 0.04-0.45) than individuals with CL/P. No TA was significantly associated with cleft laterality (p > 0.05). The quality of the evidence was very low in all analyses.
CONCLUSION
Individuals with OFC had a higher frequency of TA than those without OFC. Individuals with CP had a lower frequency of TA than individuals with CL/P. No TA was associated to cleft laterality.
CLINICAL RELEVANCE
Help to identify the treatment needs of individuals affected by OFC, improving the services provided to this population.
Topics: Cleft Lip; Cleft Palate; Humans; Tooth Abnormalities; Tooth, Supernumerary
PubMed: 35729285
DOI: 10.1007/s00784-022-04540-8 -
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 -
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 -
Journal of Thoracic Imaging Nov 2016Coronary-pulmonary arterial fistulas (CPAFs) are rare coronary artery anomalies that have been described only in limited case reports. This study aims to evaluate the... (Review)
Review
PURPOSE
Coronary-pulmonary arterial fistulas (CPAFs) are rare coronary artery anomalies that have been described only in limited case reports. This study aims to evaluate the clinical presentation and imaging findings of CPAFs collected from 6 participating medical centers along with CPAFs reported in the literature, to discern any general trends present in CPAFs.
MATERIALS AND METHODS
A total of 25 cases of CPAF diagnosed by coronary computed tomography angiography were collected across 6 participating institutions. In addition, utilizing a PubMed literature search, 78 additional CPAF cases were obtained. The imaging findings and relevant clinical history were reviewed.
RESULTS
Of the 103 CPAF patients, 60 (63% of patients with sex known) were male, with ages ranging from newborn to 88 years (mean=46.1 y). The most common symptoms reported were chest pain (n=40, 39%) and dyspnea (n=26, 25%), with a murmur as the most common physical examination finding (n=38, 37%). The most common coronary artery of origin for a CPAF was the left main/left anterior descending (n=87, 84%), followed by the right coronary artery (n=39, 38%). The fistula most commonly terminated in the main pulmonary artery (n=92, 89%). Multiple CPAFs were present in 46 cases (45%). Coronary artery aneurysms were identified in 20 cases (19%). Pediatric CPAF cases were usually associated with pulmonary atresia with ventricular septal defect.
CONCLUSIONS
CPAFs are seen in a variety of clinical settings, from infants with advanced congenital heart disease to elderly patients who have undergone revascularization surgery. Although coronary artery fistulas have previously been described as rarely involving multiple coronary arteries, with the right coronary artery being most often involved, our series demonstrates that multiple fistulas are commonly present, with the most common pattern being between the left main/left anterior descending and the main pulmonary trunk.
Topics: Arterio-Arterial Fistula; Computed Tomography Angiography; Coronary Angiography; Coronary Vessel Anomalies; Coronary Vessels; Humans; Pulmonary Artery
PubMed: 27768631
DOI: 10.1097/RTI.0000000000000232 -
European Spine Journal : Official... Sep 2023This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors.
METHODS
PubMed, Embase, and Cochrane Library were searched for relevant studies. The quality of the studies was assessed independently by two authors using the methodological index for nonrandomized studies (MINORS) criteria. The following data were extracted from the included studies: bibliometric data, number of patients, number of patients with cardiac anomalies, gender, types of deformity, diagnostic method, type of cardiac anomaly, location, and other associated anomalies. The Review Manager 5.4 software was used to group and analyze all the extracted data.
RESULTS
This meta-analysis included nine studies and identified that 487 of 2,910 patients with congenital vertebral deformity had cardiac anomalies diagnosed by ultrasound (21.05%, 95% CI of 16.85-25.25%). The mitral valve prolapse was the most frequent cardiac anomaly (48.45%) followed by an unspecified valvular anomaly (39.81) and an atrial septal defect (29.98). A diagnosis of cardiac anomalies was highest in Europe (28.93%), followed by USA (27.21%) and China (15.33%). Females and formation defects were factors significantly associated with increased incidence of cardiac anomalies: 57.37%, 95% CI of 50.48-64.27% and 40.76%, 95% CI of 28.63-52.89%, respectively. Finally, 27.11% presented associated intramedullary anomalies.
CONCLUSIONS
This meta-analysis revealed that the overall incidence of cardiac abnormalities detected in patients with congenital vertebral deformity was 22.56%. The incidence rate of cardiac anomalies was higher in females and those with formation defects. The study offers guidance for ultrasound practitioners to accurately identify and diagnose the most common cardiac anomalies.
Topics: Female; Humans; Incidence; Spine; Heart Defects, Congenital; Scoliosis; Europe
PubMed: 37294359
DOI: 10.1007/s00586-023-07817-y