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Heart, Lung & Circulation Nov 2021Transposition of the great arteries (TGA), coarctation of the aorta (CoA), single ventricle (SV) and tetralogy of Fallot (ToF) are forms of congenital heart disease... (Review)
Review
Transposition of the great arteries (TGA), coarctation of the aorta (CoA), single ventricle (SV) and tetralogy of Fallot (ToF) are forms of congenital heart disease (CHD). Despite advances in treatment, cardiovascular and cerebrovascular complications in patients with repaired CHD occur earlier in life compared to healthy subjects. A factor that may contribute to this increased risk is elevated arterial stiffness. This systematic review provides a critical assessment of current evidence on central arterial stiffness in patients with CHD compared to healthy controls. In July 2020, Medline OVID, EMBASE and Scopus were searched using keywords and MeSH terms. Articles were included if they reported indices of aortic or carotid artery stiffness in patients with TGA, CoA, SV or ToF, and compared these to controls. Additional studies were screened from the reference lists of included articles. Of 1,033 studies identified, 43 were included in the final review. Most studies identified at least one index of central arterial stiffness, commonly in the aortic root or ascending aorta, that was higher in patients with CHD compared to controls. The commonly reported surrogate markers of stiffness were pulse wave velocity, aortic distensibility and the β stiffness index. There was a relatively small number of original studies, and synthesis of data was limited by methodological heterogeneity, highlighting the need for further studies with standardised methods. However, there was consistent evidence of early and/or accelerated arterial stiffening in CHD patients, which may contribute to the increased risk of adverse cardiovascular and cerebrovascular events in this population.
Topics: Heart Defects, Congenital; Humans; Pulse Wave Analysis; Tetralogy of Fallot; Transposition of Great Vessels; Vascular Stiffness
PubMed: 34420886
DOI: 10.1016/j.hlc.2021.07.018 -
Arthritis & Rheumatology (Hoboken, N.J.) May 2022Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory...
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
OBJECTIVE
Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of "points to consider" to improve diagnosis, treatment, and long-term monitoring of patients with these rare diseases.
METHODS
Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates, and an allied health care professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires, and consensus methodology, "points to consider" to guide patient management were developed.
RESULTS
The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS.
CONCLUSION
These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care, quality of life, and disease outcomes.
Topics: Autoimmune Diseases of the Nervous System; Erythema Nodosum; Fingers; Humans; Nervous System Malformations; Quality of Life; Rheumatology; Skin Diseases
PubMed: 35315249
DOI: 10.1002/art.42087 -
Oral Diseases May 2021The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF). (Review)
Review
OBJECTIVE
The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF).
METHODS
A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key terms relevant to the research questions and supplemented by a gray literature search. The Methodological Quality and Synthesis of Case Series and Case Reports in association with the Case Series and Prevalence Studies from the Joanna Briggs Institute critical appraisal tools were used for the risk of bias. We followed the PRISMA checklist guidelines.
RESULTS
Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laband syndrome with 24 individuals in 15 studies and Costello syndrome, which was presented in a case series study with 41 individuals. Among reported cases, other clinical manifestations such as hypertrichosis, ectopic gingival calcification, and cherubism were described.
CONCLUSIONS
The results emphasize the need of systematic oro-dental-facial phenotyping for future descriptions as well as further molecular analysis in order to better understand the occurrence of syndromic GF.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Fibromatosis, Gingival; Hand Deformities, Congenital; Humans; Syndrome
PubMed: 32335995
DOI: 10.1111/odi.13369 -
Acta Obstetricia Et Gynecologica... May 2022Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of anomalies. We aimed to quantify the risk of birth defects in children born to middle-aged mothers compared with that in children born to young or older mothers.
MATERIAL AND METHODS
We classified maternal ages into three groups: young (<20 years old), middle (20-34 years old) and older age (≥35 years old). Observational studies that met our age criteria were eligible for inclusion. The articles searched using the Embase and MEDLINE databases were those published from 1989 to January 21, 2021. The Newcastle-Ottawa scale was used to assess the risk of bias. If heterogeneity exceeded 50%, the random effect method was used; otherwise, the fixed-effect method was used. Prospero registration number: CRD42021235229.
RESULTS
We included 15 cohort, 14 case-control and 36 cross-sectional studies. The pooled unadjusted odds ratio (95% CI) of any congenital anomaly was 1.64 (1.40-1.92) and 1.05 (0.95-1.15) in the older and young age groups, respectively (very low quality of evidence). The pooled unadjusted odds ratio of chromosomal anomaly was 5.64 (5.13-6.20) and 0.69 (0.54-0.88) in the older and young age groups, respectively. The pooled unadjusted odds ratio of non-chromosomal anomaly was 1.09 (1.01-1.17) and 1.10 (1.01-1.21) in the older and young age groups, respectively (very low quality of evidence). The incidence of abdominal wall defects was increased in children of women in the young maternal age group.
CONCLUSIONS
We identified that very low quality evidence suggests that women in the older maternal age group had increased odds of having children with congenital anomalies compared with those in the 20-34 year age group. There was no increase in odds of children with congenital anomalies in women of <20 year age group except for abdominal defects compared with those in the 20-34 year age group. The results stem from very low quality evidence with no adjustment of confounders.
Topics: Adult; Case-Control Studies; Child; Cohort Studies; Congenital Abnormalities; Cross-Sectional Studies; Female; Humans; Maternal Age; Middle Aged; Parturition; Pregnancy; Young Adult
PubMed: 35288928
DOI: 10.1111/aogs.14339 -
Neurological Sciences : Official... Dec 2021In anticipation of the "Chiari and Syringomyelia Consensus Conference" held in Milan in 2019, we performed a systematic literature review on the management of Chiari... (Review)
Review
In anticipation of the "Chiari and Syringomyelia Consensus Conference" held in Milan in 2019, we performed a systematic literature review on the management of Chiari malformation type 1 (CM1) and syringomyelia (Syr) in children.We aimed to summarize the available evidence and identify areas where consensus has not been reached and further research is needed.In accordance with PRISMA guidelines, we formulated seven questions in Patients-Interventions-Comparators-Outcomes (PICO) format. Six PICOs concerned CM1 children with/without additional structural anomalies (Syr, craniosynostosis, hydrocephalus, tethered cord, and cranio-vertebral junction anomalies), and one PICO Syr without CM1. We searched Medline, Embase, Cochrane, and NICE databases from January 1, 1999, to May 29, 2019. Cohort studies, controlled and randomized clinical trials (CCTs, RCTs), and systematic reviews were included, all pertinent only to patients ≤ 18 years of age.For CM1, 3787 records were found, 460 full texts were assessed and 49 studies (46 cohort studies, one RCT, and two systematic reviews) were finally included. For Syr, 376 records were found, 59 full texts were assessed, and five studies (one RCT and four cohort studies) were included. Data on each PICO were synthetized narratively due to heterogeneity in the inclusion criteria, outcome measures, and length of follow-up of the included studies.Despite decades of experience on CM1 and Syr management in children, the available evidence remains limited. Specifically, there is an urgent need for collaborative initiatives focusing on the adoption of shared inclusion criteria and outcome measures, as well as rigorous prospective designs, particularly RCTs.
Topics: Arnold-Chiari Malformation; Child; Humans; Neural Tube Defects; Prospective Studies; Syringomyelia
PubMed: 34591209
DOI: 10.1007/s10072-021-05565-9 -
The Science of the Total Environment Sep 2023Congenital heart diseases (CHDs) are a prevalent form of congenital malformations in newborns. Although previous studies have explored the association between maternal... (Meta-Analysis)
Meta-Analysis Review
Congenital heart diseases (CHDs) are a prevalent form of congenital malformations in newborns. Although previous studies have explored the association between maternal exposure to ambient air pollution and congenital anomalies in offspring, the results still remain ambiguous. To fill the knowledge gap, we performed a systematic review and meta-analysis of existing literature. A comprehensive search of the literature was conducted in PubMed, Embase, and Web of Science until August 12, 2022. We analyzed the relationship between air pollution and multiple CHDs using either a fixed-effect model or a random-effects model. Summary risk estimates of pollution-outcome pairs were calculated based on (i) risk per increment of concentration and (ii) risk at high versus low exposure levels. Additionally, we performed leave-one-out analyses and used funnel plots to assess the potential publication bias. A total of 32 studies were included and four studies utilizing distributed lag nonlinear models (DLNM) models were added to our retrospective review. In the continuous exposure meta-analysis, there were statistically significant negative associations between sulfur dioxide (SO) and transposition of the great arteries (OR = 0.96; 95 % CI: 0.93-0.99), pulmonary artery and valve defect (OR = 0.90; 95 % CI: 0.83-0.97), and ventricular septal defect (OR = 0.95; 95 % CI: 0.91-0.99). High versus low SO exposure was associated with a decreased risk of tetralogy of Fallot [OR = 0.83; 95 % CI: 0.69-0.99]. However, carbon monoxide (CO) increased risk estimates for tetralogy of Fallot in both continuous exposure (OR = 2.25; 95 % CI: 1.42-3.56) and high-low exposure (OR = 1.24; 95 % CI: 1.01-1.54). Particulate matter 10 (PM) statistically significant increased in the risk of overall CHD with odds ratios of 1.03 (95 % CI: 1.01-1.05) and 1.04 (95 % CI: 1.00-1.09) in continuous and categorical exposure analysis, respectively. These findings provide potential evidence for the association between maternal air pollution exposure and CHDs.
Topics: Female; Humans; Child; Infant, Newborn; Maternal Exposure; Air Pollutants; Incidence; Tetralogy of Fallot; Transposition of Great Vessels; Air Pollution; Heart Defects, Congenital; Particulate Matter; Environmental Exposure
PubMed: 37268121
DOI: 10.1016/j.scitotenv.2023.164431 -
Child's Nervous System : ChNS :... Dec 2021Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early... (Review)
Review
PURPOSE
Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.
METHODS
We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.
RESULTS
Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).
CONCLUSION
Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.
Topics: Child; Cranial Sutures; Craniosynostoses; Humans; Infant; Plagiocephaly; Prospective Studies; Skull; Sutures; Ultrasonography
PubMed: 34453581
DOI: 10.1007/s00381-021-05324-3 -
Neurosurgery Oct 2023Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or...
BACKGROUND
Chiari I malformation (CIM) is characterized by descent of the cerebellar tonsils through the foramen magnum, potentially causing symptoms from compression or obstruction of the flow of cerebrospinal fluid. Diagnosis and treatment of CIM is varied, and guidelines produced through systematic review may be helpful for clinicians.
OBJECTIVE
To perform a systematic review of the medical literature to answer specific questions on the diagnosis and treatment of CIM.
METHODS
PubMed and Embase were queried between 1946 and January 23, 2021, using the search strategies provided in Appendix I of the full guidelines.
RESULTS
The literature search yielded 430 abstracts, of which 79 were selected for full-text review, 44 were then rejected for not meeting the inclusion criteria or for being off-topic, and 35 were included in this systematic review.
CONCLUSION
Four Grade C recommendations were made based on Class III evidence, and 1 question had insufficient evidence. The full guidelines can be seen online at https://www.cns.org/guidelines/browse-guidelines-detail/2-symptoms .
Topics: Humans; Neurosurgeons; Arnold-Chiari Malformation; Patients; Evidence Gaps; Foramen Magnum
PubMed: 37646519
DOI: 10.1227/neu.0000000000002634 -
Molecular Autism Jul 2023Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve... (Review)
Review
BACKGROUND
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions.
METHODS
The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes.
RESULTS
From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed.
LIMITATIONS
Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias.
CONCLUSIONS
This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Topics: Humans; Septo-Optic Dysplasia; Autism Spectrum Disorder; Optic Nerve Hypoplasia; Hypopituitarism; Autistic Disorder
PubMed: 37491272
DOI: 10.1186/s13229-023-00559-0 -
Cardiovascular Revascularization... Apr 2022To assess the safety and efficacy of the Amplatzer Septal Occluder in the closure of secundum type atrial septal defects. (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To assess the safety and efficacy of the Amplatzer Septal Occluder in the closure of secundum type atrial septal defects.
BACKGROUND
The Amplatzer Septal Occluder (ASO; Abbott, St. Paul, MN) is an FDA-approved device for percutaneous closure of secundum type atrial septal defects (ASD). Previous small cohort trials have shown a favorable safety and technical efficacy profile.
METHODS
We conducted a systemic review and meta-analysis of all prospective case series and controlled trials that evaluated the ASO's safety and implant efficacy. The primary endpoint was the technical success rate of implantations. Secondary outcomes included proportions of arrhythmias and embolism specific-adverse events.
RESULTS
We included a total of 12 studies with 2972 patients. The ratio of device implantation was 2:1 by sex [female: male]. Pooled technical success rate of implantation was 98% (95% CI: 0.968-0.990, P < 0.01). The cumulative adverse event rate was 5.1% (95% CI: 0.035-0.068, P < 0.01), which included arrhythmia and embolism specific adverse event rates of 1.8% (95% CI: 0.007-0.032, P < 0.01) and 0.7% (95% CI: 0.002-0.013, P < 0.01), respectively. Sensitivity analysis did not significantly affect pooled outcomes for success rate and adverse events; both forest plot and Begg's and Egger's regression tests supported symmetricity.
CONCLUSION
A high likelihood of technical success can be expected when implanting the ASO in secundum type ASDs. Adverse event rates are expected for one in twenty patients, and thus, our results support the safe use of ASO in secundum type ASDs closure.
CONDENSED ABSTRACT
The AMPLATZER Septal Occluder is an FDA-approved device for percutaneous closure of secundum type atrial septal defects (ASD). We conducted a systemic review and meta-analysis of all prospective case series and controlled trials that evaluated the ASO's safety and implant efficacy. We included a total of 12 studies with 2972 patients. Pooled technical success rate of implantation was 98% (P < 0.01). The cumulative adverse event rate was 5.1% (P < 0.01), 1.8% (P < 0.01) rate of arrhythmias, and 0.7% (P < 0.01) rate of embolisms. A high likelihood of technical success can be expected with a low rate of adverse events.
Topics: Cardiac Catheterization; Cohort Studies; Female; Heart Septal Defects, Atrial; Humans; Male; Septal Occluder Device; Treatment Outcome
PubMed: 34183276
DOI: 10.1016/j.carrev.2021.06.002