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JAMA Network Open Aug 2022Universal ultrasonographic screening for developmental dysplasia of the hip (DDH) has gained increasing popularity despite the lack of benefit in terms of reducing the... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Universal ultrasonographic screening for developmental dysplasia of the hip (DDH) has gained increasing popularity despite the lack of benefit in terms of reducing the rates of late-detected cases (age ≥12 weeks) in randomized clinical trials.
OBJECTIVE
To report the reported incidence of DDH in the English scientific literature and compare rates of late-detected cases in settings with different DDH screening strategies.
DATA SOURCES
PubMed, Scopus, and Web of Science databases were searched on November 25 and 27, 2021. No time filters were used in the search.
STUDY SELECTION
All observational studies reporting the incidence of early-detected or late-detected (age ≥12 weeks) DDH were included. Non-English reports were excluded if the abstract did not include enough information to be included for analysis.
DATA EXTRACTION AND SYNTHESIS
The number of newborns screened and the detection rates were extracted. Meta-analysis calculated the pooled incidence of DDH per 1000 newborns with 95% CIs using a random- or fixed-effects model. This study is reported according to the PRISMA and MOOSE guidelines.
MAIN OUTCOMES AND MEASURES
The main outcome measures were early detection, early treatment, late detection, and operative treatment incidences.
RESULTS
A total of 1899 studies were identified, 203 full texts were assessed, and 76 studies with 16 901 079 infants were included in final analyses. The early detection rate was 8.4 (95% CI, 4.8-14.8) infants with DDH per 1000 newborns with clinical screening, 4.4 (95% CI, 2.4-8.0) infants with DDH per 1000 newborns with selective ultrasonographic screening, and 23.0 (95% CI, 15.7-33.4) infants with DDH per 1000 newborns with universal ultrasonographic screening. Rates for nonoperative treatment were 5.5 (95% CI, 2.1-14) treatments per 1000 newborns with clinical screening, 3.1 (95% CI, 2.0-4.8) treatments per 1000 newborns with selective ultrasonographic screening, and 9.8 (95% CI, 6.7-14.4) treatments per 1000 newborns with universal ultrasonographic screening. The incidence of late-detected DDH was 0.5 (95% CI, 0.2-1.5) infants with DDH per 1000 newborns with clinical screening, 0.6 (95% CI, 0.3-1.3) infants with DDH per 1000 newborns with selective ultrasonographic screening, and 0.2 (95% CI, 0.0-0.8) infants with DDH per 1000 newborns with universal ultrasonographic screening. The corresponding incidences of operative treatment were 0.2 (95% CI, 0.0-0.9) operations per 1000 newborns with clinical screening, 0.5 (95% CI, 0.4-0.7) operations per 1000 newborns with selective ultrasonographic screening, and 0.4 (95% CI, 0.2-0.7) operations per 1000 newborns with universal ultrasonographic screening.
CONCLUSIONS AND RELEVANCE
This meta-analysis found that early detection rates and nonoperative treatments were higher with universal screening. The late detection and operative treatment rates with universal screening were similar to those among selectively and clinically screened newborns. Based on these results, universal screening may cause initial overtreatment without reducing the rates of late detection and operative treatment.
Topics: Developmental Dysplasia of the Hip; Hip Dislocation, Congenital; Humans; Incidence; Infant; Infant, Newborn; Neonatal Screening; Ultrasonography
PubMed: 35980635
DOI: 10.1001/jamanetworkopen.2022.27638 -
Annals of the Rheumatic Diseases 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 healthcare 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 standardise 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: 35086813
DOI: 10.1136/annrheumdis-2021-221814 -
Advances in Kidney Disease and Health May 2023Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. It has been associated with a significant physical and psychological... (Review)
Review
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. It has been associated with a significant physical and psychological burden, leading to a reduced quality of life. The purpose of this literature review is to summarize the patient perspective on ADPKD based on the current published literature. A systematic literature review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Publications reporting a patient or caregiver/relative perspective of ADPKD were included. Sources searched included Medline (PubMed), Embase (Ovid), Cochrane Library, and Web of Science from inception to April 2022. This was followed by a subsequent reference and citation search. A total of 1011 articles were identified by the search process, with 28 studies included in the review. An inductive thematic analysis identified six key themes: diagnosis, monitoring, and screening; symptoms; lifestyle and dietary interventions; psychological, physical, and social impact; future planning; and interaction with the health care system. The findings of this review highlight the burden and uncertainty associated with ADPKD from a patient's perspective. This impacts patients and their caregivers/relatives at each stage of the patient's journey from screening to initiation of renal replacement therapy and future planning.
Topics: Humans; Polycystic Kidney, Autosomal Dominant; Quality of Life; Life Style
PubMed: 37088530
DOI: 10.1053/j.akdh.2023.01.002 -
Ultrasound in Obstetrics & Gynecology :... Jan 2022To determine the diagnostic accuracy of ultrasound at 11-14 weeks' gestation in the detection of fetal cardiac abnormalities and to evaluate factors that impact the... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To determine the diagnostic accuracy of ultrasound at 11-14 weeks' gestation in the detection of fetal cardiac abnormalities and to evaluate factors that impact the detection rate.
METHODS
This was a systematic review of studies evaluating the diagnostic accuracy of ultrasound in the detection of fetal cardiac anomalies at 11-14 weeks' gestation, performed by two independent reviewers. An electronic search of four databases (MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) was conducted for studies published between January 1998 and July 2020. Prospective and retrospective studies evaluating pregnancies at any prior level of risk and in any healthcare setting were eligible for inclusion. The reference standard used was the detection of a cardiac abnormality on postnatal or postmortem examination. Data were extracted from the included studies to populate 2 × 2 tables. Meta-analysis was performed using a random-effects model in order to determine the performance of first-trimester ultrasound in the detection of major cardiac abnormalities overall and of individual types of cardiac abnormality. Data were analyzed separately for high-risk and non-high-risk populations. Preplanned secondary analyses were conducted in order to assess factors that may impact screening performance, including the imaging protocol used for cardiac assessment (including the use of color-flow Doppler), ultrasound modality, year of publication and the index of sonographer suspicion at the time of the scan. Risk of bias and quality assessment were undertaken for all included studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool.
RESULTS
The electronic search yielded 4108 citations. Following review of titles and abstracts, 223 publications underwent full-text review, of which 63 studies, reporting on 328 262 fetuses, were selected for inclusion in the meta-analysis. In the non-high-risk population (45 studies, 306 872 fetuses), 1445 major cardiac anomalies were identified (prevalence, 0.41% (95% CI, 0.39-0.43%)). Of these, 767 were detected on first-trimester ultrasound examination of the heart and 678 were not detected. First-trimester ultrasound had a pooled sensitivity of 55.80% (95% CI, 45.87-65.50%), specificity of 99.98% (95% CI, 99.97-99.99%) and positive predictive value of 94.85% (95% CI, 91.63-97.32%) in the non-high-risk population. The cases diagnosed in the first trimester represented 63.67% (95% CI, 54.35-72.49%) of all antenatally diagnosed major cardiac abnormalities in the non-high-risk population. In the high-risk population (18 studies, 21 390 fetuses), 480 major cardiac anomalies were identified (prevalence, 1.36% (95% CI, 1.20-1.52%)). Of these, 338 were detected on first-trimester ultrasound examination and 142 were not detected. First-trimester ultrasound had a pooled sensitivity of 67.74% (95% CI, 55.25-79.06%), specificity of 99.75% (95% CI, 99.47-99.92%) and positive predictive value of 94.22% (95% CI, 90.22-97.22%) in the high-risk population. The cases diagnosed in the first trimester represented 79.86% (95% CI, 69.89-88.25%) of all antenatally diagnosed major cardiac abnormalities in the high-risk population. The imaging protocol used for examination was found to have an important impact on screening performance in both populations (P < 0.0001), with a significantly higher detection rate observed in studies using at least one outflow-tract view or color-flow Doppler imaging (both P < 0.0001). Different types of cardiac anomaly were not equally amenable to detection on first-trimester ultrasound.
CONCLUSIONS
First-trimester ultrasound examination of the fetal heart allows identification of over half of fetuses affected by major cardiac pathology. Future first-trimester screening programs should follow structured anatomical assessment protocols and consider the introduction of outflow-tract views and color-flow Doppler imaging, as this would improve detection rates of fetal cardiac pathology. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Fetal Diseases; Fetal Heart; Gestational Age; Heart Defects, Congenital; Humans; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, First; Prospective Studies; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 34369613
DOI: 10.1002/uog.23740 -
Human Reproduction Update Apr 2020Recurrent pregnancy loss (RPL) occurs in 1-3% of all couples trying to conceive. No consensus exists regarding when to perform testing for risk factors in couples with... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Recurrent pregnancy loss (RPL) occurs in 1-3% of all couples trying to conceive. No consensus exists regarding when to perform testing for risk factors in couples with RPL. Some guidelines recommend testing if a patient has had two pregnancy losses whereas others advise to test after three losses.
OBJECTIVE AND RATIONALE
The aim of this systematic review was to evaluate the current evidence on the prevalence of abnormal test results for RPL amongst patients with two versus three or more pregnancy losses. We also aimed to contribute to the debate regarding whether the investigations for RPL should take place after two or three or more pregnancy losses.
SEARCH METHODS
Relevant studies were identified by a systematic search in OVID Medline and EMBASE from inception to March 2019. A search for RPL was combined with a broad search for terms indicative of number of pregnancy losses, screening/testing for pregnancy loss or the prevalence of known risk factors. Meta-analyses were performed in case of adequate clinical and statistical homogeneity. The quality of the studies was assessed using the Newcastle-Ottawa scale.
OUTCOMES
From a total of 1985 identified publications, 21 were included in this systematic review and 19 were suitable for meta-analyses. For uterine abnormalities (seven studies, odds ratio (OR) 1.00, 95% CI 0.79-1.27, I2 = 0%) and for antiphospholipid syndrome (three studies, OR 1.04, 95% CI 0.86-1.25, I2 = 0%) we found low quality evidence for a lack of a difference in prevalence of abnormal test results between couples with two versus three or more pregnancy losses. We found insufficient evidence of a difference in prevalence of abnormal test results between couples with two versus three or more pregnancy losses for chromosomal abnormalities (10 studies, OR 0.78, 95% CI 0.55-1.10), inherited thrombophilia (five studies) and thyroid disorders (two studies, OR 0.52, 95% CI: 0.06-4.56).
WIDER IMPLICATIONS
A difference in prevalence in uterine abnormalities and antiphospholipid syndrome is unlikely in women with two versus three pregnancy losses. We cannot exclude a difference in prevalence of chromosomal abnormalities, inherited thrombophilia and thyroid disorders following testing after two versus three pregnancy losses. The results of this systematic review may support investigations after two pregnancy losses in couples with RPL, but it should be stressed that additional studies of the prognostic value of test results used in the RPL population are urgently needed. An evidenced-based treatment is not currently available in the majority of cases when abnormal test results are present.
Topics: Abortion, Habitual; Antiphospholipid Syndrome; Chromosome Aberrations; Female; Fertilization; Humans; Pregnancy; Risk Factors; Thrombophilia; Thyroid Diseases; Urogenital Abnormalities; Uterus
PubMed: 32103270
DOI: 10.1093/humupd/dmz048 -
Advances in Clinical and Experimental... Nov 2019Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and...
Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.
Topics: Down Syndrome; Facial Muscles; Humans; Infant; Infant, Newborn; Macroglossia; Muscle Hypotonia; Tongue; Trisomy
PubMed: 31778604
DOI: 10.17219/acem/112785 -
Orphanet Journal of Rare Diseases Oct 2020A parachute tricuspid valve is a very rare congenital cardiac anomaly. Its morphological features and clinical implications have not been sufficiently described so far.... (Review)
Review
BACKGROUND
A parachute tricuspid valve is a very rare congenital cardiac anomaly. Its morphological features and clinical implications have not been sufficiently described so far. The purpose of the present systematic review is to disclose the morphological and clinical characteristics of parachute tricuspid valve, and to discuss its diagnostic methods, treatments and patients' outcomes.
MAIN BODY
The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement guidelines were followed in this systematic review. Publications were systematically searched in the PubMed, Highwire Press, and the Cochrane Library databases. By comprehensive retrieval of the pertinent literature published between 1979 and 2019, 13 reports were collected with 14 patients recruited into this study. Their ages ranged from neonate to 52 years old with a median age of 23 years. Tricuspid valve regurgitation of a less-than-severe degree was seen in 6 (60%) patients, tricuspid valve stenosis was present in 3 (30%) patients and normally functioning tricuspid valve was noted in 1 (10%) patient. All patients had a single papillary muscle in the right ventricle. The chordae tendineae could be normal in length and thickness, or elongated, or shortened and thickened. Forty percent of the patients were asymptomatic or with only mild symptoms and did not need a surgical or interventional therapy, and 6 (60%) patients were indicated for a surgical/interventional treatment due to their severe presenting symptoms, associated congenital heart defects, and the resultant severe right ventricular inflow obstruction and (or) tricuspid stenosis. Patients' outcomes varied depending on the substantial status of the patients with a survival rate of 70% and mortality rate of 30%.
CONCLUSION
A few patients with a parachute tricuspid valve are asymptomatic or only with mild symptoms and a surgical or interventional treatment is not required. The surgical/interventional indications for parachute tricuspid valve patients are their severe presenting symptoms, associated congenital heart defects, and the resultant severe right ventricular inflow obstruction and (or) tricuspid stenosis. The survival rate of this patient setting is satisfactory.
Topics: Heart Defects, Congenital; Humans; Infant, Newborn; Middle Aged; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 33115523
DOI: 10.1186/s13023-020-01561-y -
International Journal of Environmental... Feb 2022Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip... (Review)
Review
Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers-Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
Topics: Collagen; Ehlers-Danlos Syndrome; Humans; Joint Instability; Quality of Life; Skin Abnormalities
PubMed: 35162892
DOI: 10.3390/ijerph19031870 -
Oral Diseases Jul 2022This systematic review compared children's primary dentition caries experience for those with cleft lip and/or palate (CL/P) and without. Four databases were searched... (Meta-Analysis)
Meta-Analysis Review
This systematic review compared children's primary dentition caries experience for those with cleft lip and/or palate (CL/P) and without. Four databases were searched without date restriction for; cross-sectional studies comparing caries experience for children with CL/P to those without. Screening, data extraction and risk assessment were carried out independently (in duplicate). Meta-analyses used a random-effects model. Twenty studies (21 reports) fitting the inclusion criteria comprised 4647 children in primary dentition from 12 countries. For dmft (n = 3016 children; 15 groups), CL/P mean = 3.2; standard deviation = 2.22 and no CL/P mean dmft = 2.5; sd 1.53. For dmfs (n = 1095 children; 6 groups), CL/P mean = 4; sd = 3.5 and no CL/P mean = 3; sd = 2.8. For % caries experience (n = 1094 children; 7 groups), CL/P mean = 65%; sd = 20.8 and no CL/P mean = 52%; sd = 28.1. Meta-analysis showed higher caries experience in children with CL/P, standardised mean difference = 0.46; 95% CI = 0.15, 0.77. Studies' risk of bias was high (n = 7), medium (n-10) and low (n = 3). Children with CL/P had higher caries experience compared to those without CLP.
Topics: Child; Cleft Lip; Cleft Palate; Cross-Sectional Studies; Dental Caries; Dental Caries Susceptibility; Humans
PubMed: 35263806
DOI: 10.1111/odi.14183 -
Scandinavian Journal of Surgery : SJS :... Sep 2023Non-obstetric surgery is fairly common in pregnant women. We performed a systematic review to update data on non-obstetric surgery in pregnant women. The aim of this... (Review)
Review
BACKGROUND AND OBJECTIVE
Non-obstetric surgery is fairly common in pregnant women. We performed a systematic review to update data on non-obstetric surgery in pregnant women. The aim of this review was to evaluate the effects of non-obstetric surgery during pregnancy on pregnancy, fetal and maternal outcomes.
METHODS
A systematic literature search of MEDLINE and Scopus was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The search span was from January 2000 to November 2022. Thirty-six studies matched the inclusion criteria, and 24 publications were identified through reference mining; 60 studies were included in this review. Outcome measures were miscarriage, stillbirth, preterm birth, low birth weight, low Apgar score, and infant and maternal morbidity and mortality rates.
RESULTS
We obtained data for 80,205 women who underwent non-obstetric surgery and data for 16,655,486 women who did not undergo surgery during pregnancy. Prevalence of non-obstetric surgery was between 0.23% and 0.74% (median 0.37%). Appendectomy was the most common procedure with median prevalence of 0.10%. Near half (43%) of the procedures were performed during the second trimester, 32% during the first trimester, and 25% during the third trimester. Half of surgeries were scheduled, and half were emergent. Laparoscopic and open techniques were used equally for abdominal cavity. Women who underwent non-obstetric surgery during pregnancy had increased rate of stillbirth (odds ratio (OR) 2.0) and preterm birth (OR 2.1) compared to women without surgery. Surgery during pregnancy did not increase rate of miscarriage (OR 1.1), low 5 min Apgar scores (OR 1.1), the fetus being small for gestational age (OR 1.1) or congenital anomalies (OR 1.0).
CONCLUSIONS
The prevalence of non-obstetric surgery has decreased during last decades, but still two out of 1000 pregnant women have scheduled surgery during pregnancy. Surgery during pregnancy increases the risk of stillbirth, and preterm birth. For abdominal cavity surgery, both laparoscopic and open approaches are feasible.
Topics: Infant; Pregnancy; Infant, Newborn; Female; Humans; Pregnancy Outcome; Premature Birth; Stillbirth; Abortion, Spontaneous; Fetus
PubMed: 37329286
DOI: 10.1177/14574969231175569