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The Journal of Clinical Endocrinology... Aug 2023Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by...
CONTEXT
Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.
OBJECTIVE
The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders.
METHODS
We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers.
RESULTS
Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
CONCLUSION
Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
Topics: Humans; Intellectual Disability; Hyperostosis, Cortical, Congenital; Phenotype; Electrolytes; Hypoparathyroidism
PubMed: 36916904
DOI: 10.1210/clinem/dgad147 -
Early Human Development May 2023There is lack of evidence synthesis on the global consequences of bronchopulmonary dysplasia (BPD) in adolescence. (Review)
Review
BACKGROUND
There is lack of evidence synthesis on the global consequences of bronchopulmonary dysplasia (BPD) in adolescence.
AIM
Assess the impact of bronchopulmonary dysplasia on respiratory and non-respiratory outcomes in adolescents.
METHODS
A systematic review of studies assessing the outcomes of adolescents aged 10 to 19 years-old with BPD was conducted. We independently screened studies published until 6th March 2023 in PubMed® and Scopus® databases. Data on methodologic design, sample descriptive and findings were extracted from each study. Risk of bias was assessed using quality assessment tools.
RESULTS
Thirty-one studies were included. Adolescents with a history of BPD present with more respiratory symptoms (wheezing, respiratory exacerbations, need for respiratory medication) and twenty-five studies showed a reduction in pulmonary function, with varying impact according to BPD severity and no differences before and after the surfactant era. Spirometry evaluation throughout the years is not consensual, but methacholine and salbutamol response in BPD groups is increased compared to non-BPD groups. Markers of eosinophilic airway inflammation are not increased as in asthma patients. Exercise potential is identical, but data regarding physical capacity and activity are inconsistent. More frequent radiologic abnormalities translate into higher high-resolution computed tomography scores, with linear (72.2 %) and triangular subpleural opacities (58.3 %) as the most common findings. There is a higher risk for special needs in education, but quality of life seems to be equal to non-BPD adolescents.
CONCLUSIONS
BPD negatively impacts both pulmonary and non-pulmonary outcomes in adolescents.
Topics: Infant, Newborn; Humans; Adolescent; Child; Young Adult; Adult; Bronchopulmonary Dysplasia; Quality of Life; Lung; Asthma; Spirometry
PubMed: 36965348
DOI: 10.1016/j.earlhumdev.2023.105756 -
PloS One 2015Chorioamnionitis has recently been reported as a risk factor for various neonatal diseases, including cerebral palsy, bronchopulmonary dysplasia, and necrotizing... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chorioamnionitis has recently been reported as a risk factor for various neonatal diseases, including cerebral palsy, bronchopulmonary dysplasia, and necrotizing enterocolitis, but its effect on patent ductus arteriosus (PDA) is unclear. We performed a systematic review and meta-analysis to evaluate the effect of chorioamnionitis on PDA.
METHODS
We searched PubMed, EMBASE, Cochrane Library, and KoreaMed databases using the terms: "intrauterine infection" or "maternal infection" or "antenatal infection" or "chorioamnionitis" or "placenta inflammation" or "placenta pathology" or "neonatal outcome" or "neonatal morbidity" or "PDA or patent ductus arteriosus" or "ductus arteriosus," and "prematurity" or "very low birth weight infant." Studies were included if they were randomized controlled trials, case-control studies, or cohort studies that included information relating to chorioamnionitis and PDA.
RESULTS
Among 1,571 studies, a total of 23 studies (17,708 cases) were included in the meta-analysis to analyze the relationship between chorioamnionitis and PDA, except one study that only included PDA requiring surgical ligation. The association between chorioamnionitis and PDA was statistically significant (odds ratio [OR] 1.43; 95% confidence interval [CI] 1.19, 1.72; P < 0.0001). In subgroup analysis, clinical chorioamnionitis was not associated with PDA (OR 1.28; 95% CI 1.00, 1.64, 1.790; P = 0.05), whereas histologic chorioamnionitis (OR 1.54; 95% CI 1.10, 2.15; P = 0.01) and chorioamnionitis diagnosed from both clinical and histologic findings (OR 1.75; 95% CI 1.07, 2.86; P = 0.03) showed significant associations with PDA. Chorioamnionitis did not increase the risk of PDA requiring surgical ligation (OR 1.23; 95% CI 0.69, 2.17; P = 0.48), and antenatal steroid use reduced the risk of PDA (OR 0.62; 95% CI 0.42, 0.90; P = 0.01) after chorioamnionitis.
CONCLUSIONS
The results from this meta-analysis support an association between maternal chorioamnionitis and PDA in offspring.
Topics: Chorioamnionitis; Ductus Arteriosus, Patent; Female; Humans; Pregnancy; Prevalence; Prognosis
PubMed: 26375582
DOI: 10.1371/journal.pone.0138114 -
BMJ Paediatrics Open Oct 2023To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis.
METHOD
A literature search was conducted in April 2023, using databases such as Cochrane Library, PubMed, MEDLINE, CNKI, and SinoMed, without language restrictions. Eligible studies included cross-sectional studies reporting the prevalence of DDH among infants aged 0-12 months. Two independent reviewers manually selected and coded the studies, with any disagreements resolved by a third reviewer. Meta-analysis was performed using a random-effects model to calculate the prevalence of DDH. Regression analysis examined the trend of DDH prevalence, and stratification analysis explored heterogeneity between studies.
RESULTS
A total of 65 studies involving 3 451 682 infants were included in the meta-analysis. None of the studies were classified as high quality, four were medium-to-high quality, 50 were low-to-medium quality, and eight were low quality. The pooled prevalence of DDH was 1.40% (95% CI: 0.86 to 2.28, I=100%), and prevalence of dysplasia, subluxation, and dislocation was 1.45% (95% CI: 0.93 to 2.24, I=97%), 0.37% (95% CI: 0.22 to 0.60, I=94%), and 0.21% (95% CI: 0.13 to 0.34, I=92%), respectively. Notably, the overall prevalence has a slight upward trend in the last three decades (β=0.24, p=0.35), but the dysplasia was downward trend (β=-0.48, p<0.01). Girls have higher risk of DDH than boys (1.46% vs 0.66%; Q=5.83, df=1, p=0.02). There were no significant differences based on gender, country, setting, or screening technique.
CONCLUSION
The prevalence of DDH among infants is approximately one in a 100, with girls being at higher risk. Though the prevalence of dysplasia has decreased, there is a slight upward trend in overall DDH. Therefore, routine screening for DDH in infants is recommended to prevent more serious developmental problems.
Topics: Male; Female; Humans; Infant; Prevalence; Cross-Sectional Studies; Developmental Dysplasia of the Hip; Hip Dislocation, Congenital; Mass Screening
PubMed: 37879719
DOI: 10.1136/bmjpo-2023-002080 -
Knee Surgery, Sports Traumatology,... Oct 2022The literature on hip injuries in ballet dancers was systematically evaluated to answer (1) whether the prevalence of morphological abnormalities and pathology of hip... (Review)
Review
PURPOSE
The literature on hip injuries in ballet dancers was systematically evaluated to answer (1) whether the prevalence of morphological abnormalities and pathology of hip injuries in dancers differs from the general population (2) if there are any specific risk factors which contribute to a higher rate of hip injury and (3) what are the outcomes of primary and secondary intervention strategies.
METHODS
A systematic literature search of Medline, EMBASE and the Cochrane Library was undertaken for all literature relating to hip injuries in ballet dancers using the PRISMA guidelines. Reference lists were also searched for relevant literature. Clinical outcome studies, prospective/retrospective case series published between 1989 and October 2021 were included. Review articles (non-original data), case reports, studies on animals as well as book chapters were excluded.
RESULTS
The search yielded 445 studies, of which 35 were included for final analyses after screening. This included 1655 participants, of which 1131 were females. The analyses revealed that damage at the chondrolabral junction and degenerative disease of the hip may develop at a higher rate in ballet dancers than in the general population (odds ratio > 1 in 15/18 cohorts). The intra-articular lesions were more frequently found in postero-superior region of the hip suggesting an alternative impingement mechanism. Furthermore, numerous risk factors specific for hip injury in ballet were highlighted amidst a wide body of literature which consistently reports risk factors for a more generic 'dancer vulnerability'.
CONCLUSION
Ballet dancers may suffer from both higher rates of chondrolabral damage and degenerative disease in their hips. In contrast to other sports, the intra-articular lesions are more frequently found in postero-superior region of the hip. Future research clarifying the prevalence of osseous abnormalities and prevention strategies in dancers may be pivotal in delaying the development of hip disease in this cohort.
LEVEL OF EVIDENCE
Level IV.
Topics: Dancing; Female; Hip; Hip Injuries; Humans; Male; Prospective Studies; Retrospective Studies
PubMed: 35305112
DOI: 10.1007/s00167-022-06928-1 -
Bronchopulmonary dysplasia prediction models: a systematic review and meta-analysis with validation.Pediatric Research Jul 2023Prediction models could identify infants at the greatest risk of bronchopulmonary dysplasia (BPD) and allow targeted preventative strategies. We performed a systematic... (Meta-Analysis)
Meta-Analysis
Prediction models could identify infants at the greatest risk of bronchopulmonary dysplasia (BPD) and allow targeted preventative strategies. We performed a systematic review and meta-analysis with external validation of identified models. Studies using predictors available before day 14 of life to predict BPD in very preterm infants were included. Two reviewers assessed 7628 studies for eligibility. Meta-analysis of externally validated models was followed by validation using 62,864 very preterm infants in England and Wales. A total of 64 studies using 53 prediction models were included totalling 274,407 infants (range 32-156,587/study). In all, 35 (55%) studies predated 2010; 39 (61%) were single-centre studies. A total of 97% of studies had a high risk of bias, especially in the analysis domain. Following meta-analysis of 22 BPD and 11 BPD/death composite externally validated models, Laughon's day one model was the most promising in predicting BPD and death (C-statistic 0.76 (95% CI 0.70-0.81) and good calibration). Six models were externally validated in our cohort with C-statistics between 0.70 and 0.90 but with poor calibration. Few BPD prediction models were developed with contemporary populations, underwent external validation, or had calibration and impact analyses. Contemporary, validated, and dynamic prediction models are needed for targeted preventative strategies. IMPACT: This review aims to provide a comprehensive assessment of all BPD prediction models developed to address the uncertainty of which model is sufficiently valid and generalisable for use in clinical practice and research. Published BPD prediction models are mostly outdated, single centre and lack external validation. Laughon's 2011 model is the most promising but more robust models, using contemporary data with external validation are needed to support better treatments.
Topics: Infant; Infant, Newborn; Humans; Infant, Premature; Bronchopulmonary Dysplasia; Infant, Very Low Birth Weight; Infant, Premature, Diseases; England
PubMed: 36624282
DOI: 10.1038/s41390-022-02451-8 -
Journal of Perinatal Medicine Nov 2023Dexamethasone administration can reduce bronchopulmonary dysplasia, our objective was to identify long term adverse effects. (Review)
Review
BACKGROUND
Dexamethasone administration can reduce bronchopulmonary dysplasia, our objective was to identify long term adverse effects.
CONTENT
A systematic review was performed to determine the childhood and adolescent cardiopulmonary and cognitive effects of dexamethasone systemically administered to preterm infants during neonatal intensive care. Relevant studies were identified by searching two electronic health databases and the grey literature. Spirometry assessments were used as respiratory outcomes, blood pressure and echocardiography assessments as cardiovascular outcomes and cognitive and motor function as cognitive outcomes. From 1,479 articles initially identified, 18 studies (overall 1,609 patients) were included (respiratory n=8, cardiovascular n=2, cognitive n=10); all were observational cohort studies. Dexamethasone exposure was associated with worse pulmonary outcomes in children and adolescents (more abnormal FVC and FEV1:FVC z scores). Dexamethasone exposure was associated in one study with lower IQ scores compared to preterm controls (mean 78.2 [SD 15.0] vs. 84.4 [12.6], [p=0.008]) and in two others was associated with lower total and performance IQ when compared to term controls (p<0.001).
SUMMARY AND OUTLOOK
Postnatal dexamethasone exposure has a negative influence on pulmonary and cognitive outcomes in childhood and adolescence. Medications with a better benefit to risk profile need to be identified.
Topics: Adolescent; Child; Humans; Infant; Infant, Newborn; Adrenal Cortex Hormones; Anti-Inflammatory Agents; Bronchopulmonary Dysplasia; Chronic Disease; Dexamethasone; Glucocorticoids; Infant, Premature
PubMed: 37606507
DOI: 10.1515/jpm-2023-0297 -
Imiquimod for Cervical and Vaginal Intraepithelial Neoplasia: A Systematic Review and Meta-analysis.Obstetrics and Gynecology Aug 2023To evaluate the treatment efficacy and the risk of adverse events of imiquimod for cervical intraepithelial neoplasia (CIN) and vaginal intraepithelial neoplasia (VAIN),... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the treatment efficacy and the risk of adverse events of imiquimod for cervical intraepithelial neoplasia (CIN) and vaginal intraepithelial neoplasia (VAIN), compared with placebo or no intervention.
DATA SOURCES
We searched Cochrane, PubMed, ISRCTN registry, ClinicalTrials.gov , and the World Health Organization International Clinical Trials Registry Platform up to November 23, 2022.
METHODS OF STUDY SELECTION
We included randomized controlled trials and prospective nonrandomized studies with control arms that investigated the efficacy of imiquimod for histologically confirmed CIN or VAIN. The primary outcomes were histologic regression of the disease (primary efficacy outcome) and treatment discontinuation due to side effects (primary safety outcome). We estimated pooled odds ratios (ORs) of imiquimod, compared with placebo or no intervention. We also conducted a meta-analysis of the proportions of patients with adverse events in the imiquimod arms.
TABULATION, INTEGRATION, AND RESULTS
Four studies contributed to the pooled OR for the primary efficacy outcome. An additional four studies were available for meta-analyses of proportions in the imiquimod arm. Imiquimod was associated with increased probability of regression (pooled OR 4.05, 95% CI 2.08-7.89). Pooled OR for CIN in the three studies was 4.27 (95% CI 2.11-8.66); results of one study were available for VAIN (OR, 2.67, 95% CI 0.36-19.71). Pooled probability for primary safety outcome in the imiquimod arm was 0.07 (95% CI 0.03-0.14). The pooled probabilities (95% CI) of secondary outcomes were 0.51 (0.20-0.81) for fever, 0.53 (0.31-0.73) for arthralgia or myalgia, 0.31 (0.18-0.47) for abdominal pain, 0.28 (0.09-0.61) for abnormal vaginal discharge or genital bleeding, 0.48 (0.16-0.82) for vulvovaginal pain, and 0.02 (0.01-0.06) for vaginal ulceration.
CONCLUSION
Imiquimod was found to be effective for CIN, whereas data on VAIN were limited. Although local and systemic complications are common, treatment discontinuation is infrequent. Thus, imiquimod is potentially an alternative therapy to surgery for CIN.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO, CRD42022377982.
Topics: Female; Humans; Imiquimod; Antineoplastic Agents; Prospective Studies; Aminoquinolines; Uterine Cervical Dysplasia; Uterine Cervical Neoplasms
PubMed: 37411024
DOI: 10.1097/AOG.0000000000005256 -
Endoscopy International Open Sep 2023Upper gastrointestinal (UGI) endoscopy lacks established quality indicators. We conducted an umbrella systematic review of potential quality indicators for the... (Review)
Review
Upper gastrointestinal (UGI) endoscopy lacks established quality indicators. We conducted an umbrella systematic review of potential quality indicators for the detection of UGI cancer and dysplasia. Bibliographic databases were searched up to December 2021 for systematic reviews and primary studies. Studies reporting diagnostic accuracy, detection rates or the association of endoscopy or endoscopist-related factors with UGI cancer or dysplasia detection were included. AMSTAR2 and JBI checklists were used to assess systematic review and primary study quality. Clinical heterogeneity precluded meta-analysis and findings are summarized narratively. Eight systematic reviews and nine primary studies were included. Image enhancement, especially narrow band imaging, had high diagnostic accuracy for dysplasia and early gastric cancer (pooled sensitivity 0.87 (95% CI 0.84-0.89) and specificity 0.97 (0.97-0.98)). Higher detection rates with longer endoscopy examination times were reported in three studies, but no difference was observed in one study. Endoscopist biopsy rate was associated with increased gastric cancer detection (odds ratio 2.5; 95% confidence interval [CI] 2.1-2.9). Early esophageal cancer (0.17% vs 0.14%, =0.04) and gastric cancer (0.16% vs 0.12%, =0.02) detection rates were higher with propofol sedation compared to no sedation. Endoscopies performed by trained endoscopists on dedicated Barrett's surveillance lists had higher detection rates (8% vs 3%, <0.001). The neoplasia detection rate during diagnostic endoscopies for Barrett's esophagus was 7% (95% CI 4%-10%). Image enhancement use, longer examination times, biopsy rate and propofol sedation are potential quality indicators for UGI endoscopy. Neoplasia detection rate and dedicated endoscopy lists are additional potential quality indicators for Barrett's esophagus.
PubMed: 37719799
DOI: 10.1055/a-2117-8621 -
Frontiers in Pediatrics 2023Retinopathy of prematurity (ROP) and abnormal brain development share similar risk factors and mechanisms. There has been contrasting evidence on the association of ROP... (Review)
Review
BACKGROUND
Retinopathy of prematurity (ROP) and abnormal brain development share similar risk factors and mechanisms. There has been contrasting evidence on the association of ROP with adverse neurodevelopmental outcomes.
OBJECTIVE
We analysed the association between ROP at levels of severity and treatment with all neurodevelopmental outcomes until adolescence.
DATA SOURCE
We followed PRISMA guidelines and searched Medline and Embase between 1 August 1990 and 31 March 2022.
STUDY SELECTION AND PARTICIPANTS
Randomised or quasi-randomised clinical trials and observational studies on preterm infants (<37 weeks) with ROP [type 1 or severe ROP, type 2 or milder ROP, laser or anti-vascular endothelial growth factor (VEGF) treated] were included.
DATA EXTRACTION AND SYNTHESIS
We included studies on ROP and any neurocognitive or neuropsychiatric outcomes.
OUTCOMES
The primary outcomes were as follows: cognitive composite scores evaluated between the ages of 18 and 48 months by the Bayley Scales of Infant and Toddler Development (BSID) or equivalent; neurodevelopmental impairment (NDI; moderate to severe NDI or severe NDI), cerebral palsy, cognitive impairment; and neuropsychiatric or behavioural problems. The secondary outcomes were as follows: motor and language composite scores evaluated between the ages of 18 and 48 months by BSID or equivalent; motor/language impairment; and moderate/severe NDI as defined by the authors.
RESULTS
In preterm infants, "any ROP" was associated with an increased risk of cognitive impairment or intellectual disability [ = 83,506; odds ratio (OR): 2.56; 95% CI: 1.40-4.69; = 0.002], cerebral palsy ( = 3,706; OR: 2.26; 95% CI: 1.72-2.96; < 0.001), behavioural problems ( = 81,439; OR: 2.45; 95% CI: 1.03-5.83; = 0.04), or NDI as defined by authors ( = 1,930; OR: 3.83; 95% CI: 1.61-9.12; = 0.002). Type 1 or severe ROP increased the risk of cerebral palsy (OR: 2.19; 95% CI: 1.23-3.88; = 0.07), cognitive impairment or intellectual disability ( = 5,167; OR: 3.56; 95% CI: 2.6-4.86; < 0.001), and behavioural problems ( = 5,500; OR: 2.76; 95% CI: 2.11-3.60; < 0.001) more than type 2 ROP at 18-24 months. Infants treated with anti-VEGF had higher odds of moderate cognitive impairment than the laser surgery group if adjusted data (gestational age, sex severe intraventricular haemorrhage, bronchopulmonary dysplasia, sepsis, surgical necrotising enterocolitis, and maternal education) were analysed [adjusted OR (aOR): 1.93; 95% CI: 1.23-3.03; = 0.04], but not for cerebral palsy (aOR: 1.29; 95% CI: 0.65-2.56; = 0.45). All outcomes were adjudged with a "very low" certainty of evidence.
CONCLUSION AND RELEVANCE
Infants with "any ROP" had higher risks of cognitive impairment or intellectual disability, cerebral palsy, and behavioural problems. Anti-VEGF treatment increased the risk of moderate cognitive impairment. These results support the association of ROP and anti-VEGF treatment with adverse neurodevelopmental outcomes.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/, identifier: CRD42022326009.
PubMed: 37009271
DOI: 10.3389/fped.2023.1055813