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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 -
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 -
The Cochrane Database of Systematic... Oct 2015Topical corticosteroids are the most frequently prescribed dermatological treatment and are often used by pregnant women with skin conditions. However, little is known... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Topical corticosteroids are the most frequently prescribed dermatological treatment and are often used by pregnant women with skin conditions. However, little is known about their safety in pregnancy.
OBJECTIVES
To assess the effects of topical corticosteroids on pregnancy outcomes in pregnant women.
SEARCH METHODS
This is an update of a review previously published in 2009. We updated our searches of the following databases to July 2015: the Cochrane Skin Group Specialised Register, the Cochrane Pregnancy and Childbirth Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL) (2015, Issue 6), MEDLINE, EMBASE, and LILACS. We also searched five trials registers and checked the reference lists of included studies, published reviews, articles that had cited the included studies, and one author's literature collection, for further references to relevant RCTs.
SELECTION CRITERIA
Randomised controlled trials and cohort studies of topical corticosteroids in pregnant women, as well as case-control studies comparing maternal exposure to topical corticosteroids between cases and controls when studies reported pre-specified outcomes. The primary outcomes included mode of delivery, major congenital abnormality, birth weight, and preterm delivery (delivery before 37 completed weeks gestation); the secondary outcomes included foetal death, minor congenital abnormality, and low Apgar score (less than seven at 5 min).
DATA COLLECTION AND ANALYSIS
We used standard methodological procedures expected by Cochrane. Two authors independently applied selection criteria, extracted data, and assessed the quality of the included studies. A third author was available for resolving differences of opinion. A further author independently extracted data from included studies that were conducted by authors of this systematic review.
MAIN RESULTS
We included 7 new observational studies in this update, bringing the total number to 14, including 5 cohort and 9 case-control studies, with 1,601,515 study subjects.Most studies found no causal associations between maternal exposure to topical corticosteroids of any potency and pregnancy outcomes when compared with no exposure. These outcomes included: mode of delivery (risk ratio (RR) 1.04, 95% confidence interval (CI) 0.95 to 1.15, 1 cohort study, n = 9904, low quality evidence); congenital abnormalities, including orofacial cleft or cleft palate and hypospadias (where the urethral opening is on the underside of the penis) (RR 0.82, 95% CI 0.34 to 1.96, 2 cohort studies, n = 9512, low quality evidence; and odds ratio (OR) 1.07, 95% CI 0.71 to 1.60, 1 case-control study, n = 56,557); low birth weight (RR 1.08, 95% CI 0.86 to 1.36; n = 59,419, 4 cohort studies; very low quality evidence); preterm delivery (RR 0.93, 95% CI 0.81 to 1.08, 4 cohort studies, n = 59,419, low quality evidence); foetal death (RR 1.02, 95% CI 0.60 to 1.73, 4 cohort studies, n = 63,885, very low quality evidence); and low Apgar score (RR 0.84, 95% CI 0.54 to 1.31, 1 cohort study, n = 9220, low quality evidence).We conducted stratified analyses of mild or moderate potency, and potent or very potent topical corticosteroids, but we found no causal associations between maternal exposure to topical corticosteroid of any potency and congenital abnormality, orofacial clefts, preterm delivery, or low Apgar score. For low birth weight, although the meta-analysis based on study-level data was not significant for either mild to moderate corticosteroids (pooled RR 0.90, 95% CI 0.74 to 1.09, 3 cohort studies, n > 55,713) or potent to very potent corticosteroids (pooled RR 1.58, 95% CI 0.96 to 2.58, 4 cohort studies, n > 47,651), there were significant differences between the two subgroups (P = 0.04). The results from three of the individual studies in the meta-analysis indicated an increased risk of low birth weight in women who received potent to very potent topical corticosteroids. Maternal use of mild to moderate potency topical steroids was associated with a decreased risk of foetal death (pooled RR 0.70, 95% CI 0.64 to 0.77, 2 studies, n = 48,749; low quality evidence), but we did not observe this effect when potent to very potent topical corticosteroids were given during pregnancy (pooled RR 1.14, 95% CI 0.69 to 1.88, 3 studies, n = 37,086, low quality evidence).We used the Grades of Recommendation, Assessment, Development and Evaluation (GRADE) Working Group approach to rate the overall quality of the evidence. Data from observational studies started at low quality. We further downgraded the evidence because of imprecision in low birth weight and inconsistency in foetal death. Lower quality evidence resulted in lower confidence in the estimate of effect for those outcomes.
AUTHORS' CONCLUSIONS
This update adds more evidence showing no causal associations between maternal exposure to topical corticosteroids of all potencies and pregnancy outcomes including mode of delivery, congenital abnormalities, preterm delivery, foetal death, and low Apgar score, which is consistent with the previous version of this review. This update provides stratified analyses based on steroid potency; we found no association between maternal use of topical corticosteroids of any potency and an increase in adverse pregnancy outcomes, including mode of delivery, congenital abnormality, preterm delivery, foetal death, and low Apgar score. Similar to the previous version of the review, this update identified a probable association between low birth weight and maternal use of potent to very potent topical corticosteroids, especially when the cumulative dosage of topical corticosteroids throughout the pregnancy is very large, which warrants further investigation. The finding of a possible protective effect of mild to moderate topical corticosteroids on foetal death could also be examined.
Topics: Abnormalities, Drug-Induced; Administration, Topical; Adrenal Cortex Hormones; Birth Weight; Case-Control Studies; Cleft Lip; Cleft Palate; Cohort Studies; Dermatologic Agents; Female; Humans; Infant, Low Birth Weight; Observational Studies as Topic; Pregnancy; Pregnancy Complications; Premature Birth; Skin Pigmentation
PubMed: 26497573
DOI: 10.1002/14651858.CD007346.pub3 -
Surgical and Radiologic Anatomy : SRA Jun 2023To present two cases of Internal Carotid Artery (ICA) agenesis and conduct a systematic review to assess for associations with other anomalies and intracranial aneurysms. (Review)
Review
PURPOSE
To present two cases of Internal Carotid Artery (ICA) agenesis and conduct a systematic review to assess for associations with other anomalies and intracranial aneurysms.
METHODOLOGY
We performed a retrospective review of published cases of patients with ICA agenesis with intercavernous anastomosis in MEDLINE database on August 2022 using search terms "internal carotid artery", "agenesis" and "transcavernous anastomosis". We also included two cases of ICA agenesis with type D collateral that we encountered.
RESULTS
Total of 46 studies that included 48 patients and two of our cases resulted in 50 patients. Only 70% of studies reported the location of a collateral vessel of which more than two-thirds were on the floor of sella. More than half of the vessels connected cavernous segments of ICA. A1 segment ipsilateral to the side of ICA agenesis was absent in most of the cases but was not true for all cases. Aneurysm was seen in more than one-quarter of the patients. It can also mimic microadenoma as in prior reported cases as well as in one of our cases.
CONCLUSION
ICA agenesis with type D collateral is a rare anomaly but clinically relevant due to the increased risk of an aneurysm or mimic microadenoma or false alarm for occlusion of ICA but knowledge of this rare variant can help in better management of these patients.
Topics: Humans; Carotid Artery, Internal; Cerebral Arteries; Cerebral Veins; Intracranial Aneurysm; Vascular Malformations; Anastomosis, Surgical
PubMed: 36899092
DOI: 10.1007/s00276-023-03117-8 -
Developmental Neuropsychology Jul 2023There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between... (Review)
Review
There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between SSC and cognition, a systematic literature search was conducted and eligible studies assessed for inclusion by two independent readers. Forty-eight studies met inclusion criteria. Small to medium but persistent effects on both general and some specific cognitive functions across age bands were found in higher quality studies for SSC overall. There was limited evidence for effects related to surgical correction. Methodologies varied substantially and there was a lack of longitudinal studies using broad assessment batteries.
Topics: Humans; Craniosynostoses; Cognition; Longitudinal Studies; Sutures
PubMed: 37341559
DOI: 10.1080/87565641.2023.2225662