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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 -
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 -
Current Allergy and Asthma Reports Dec 2023To analyze and compare the effects of epistaxis treatments for Hereditary Hemorrhagic Telangiectasia (HHT) patients. (Meta-Analysis)
Meta-Analysis Review
PURPOSE OF REVIEW
To analyze and compare the effects of epistaxis treatments for Hereditary Hemorrhagic Telangiectasia (HHT) patients.
RECENT FINDINGS
Of total of 21 randomized controlled trials (RCT), the data from 15 RCTs (697 patients, 7 treatments: timolol, propranolol, bevacizumab, doxycycline, tacrolimus, estriol/estradiol, and tranexamic acid) were pooled for the meta-analyses while the other 6 studies (treatments: electrosurgical plasma coagulation, KTP laser, postoperative packing, tamoxifen, sclerosing agent, and estriol) were reviewed qualitatively. When compared to placebo, propranolol offered the most improved epistaxis severity score, mean difference (MD), -1.68, 95% confidence interval (95%CI) [-2.80, -0.56] followed by timolol, MD -0.40, 95%CI [-0.79, -0.02]. Tranexamic acid significantly reduced the epistaxis frequency, MD -1.93, 95%CI [-3.58, -0.28]. Other treatments had indifferent effects to placebo. Qualitative analysis highlighted the benefits of tamoxifen and estriol. The adverse events of tranexamic acid, tacrolimus, propranolol, and estradiol were significantly reported. Propranolol, timolol, tranexamic acid, tamoxifen, and estriol were effective treatments which offered benefits to HHT patients in epistaxis management. Adverse events of tranexamic acid, tacrolimus, propranolol, and estradiol should be concerned.
Topics: Humans; Epistaxis; Tranexamic Acid; Timolol; Telangiectasia, Hereditary Hemorrhagic; Propranolol; Network Meta-Analysis; Tacrolimus; Estriol; Estradiol; Tamoxifen
PubMed: 37995018
DOI: 10.1007/s11882-023-01116-8 -
Journal of Pharmacy Practice Aug 2023Since pregnant women were excluded from clinical trials for vaccines against SARS-CoV-2, the novel coronavirus disease 2019 (COVID-19), there is limited data on the... (Review)
Review
Since pregnant women were excluded from clinical trials for vaccines against SARS-CoV-2, the novel coronavirus disease 2019 (COVID-19), there is limited data on the safety and efficacy of vaccines in this population. This systematic review explored the safety and efficacy of mRNA vaccines in pregnant women. A literature search was performed using Ovid databases through November 2021 for all studies evaluated efficacy and safety of mRNA COVID-19 vaccines in pregnant women. A total of five studies including 42,782 women were included in the systematic review. Humoral immunity to COVID-19 was detected in pregnant women who received the vaccine and no differences found in spike-specific T-cell responses. Incidence of high-grade chronic villitis is higher in the unvaccinated group with adjusted odds ratio of .31 (.1-.97), < .05. Vaccination in pregnant women resulted in 12.6% spontaneous abortions (SAB) with 92.3% occurring in the first trimester, .1% stillbirth (20 weeks gestation), 9.4% preterm birth (<37 weeks gestation), and 2.2% congenital abnormalities. The mRNA COVID-19 vaccines are immunogenic in pregnant women and no obvious safety concerns observed. There is no increased incidence of adverse reactions in pregnant women. Our finding supports that pregnant women should receive the vaccination at their earliest convenience regardless of trimester.
PubMed: 37605626
DOI: 10.1177/08971900231196065 -
Clinical Anatomy (New York, N.Y.) Jan 2024Ventricular false tendons are fibromuscular structures that travel across the ventricular cavity. Left ventricular false tendons (LVFTs) have been examined through gross... (Meta-Analysis)
Meta-Analysis Review
Ventricular false tendons are fibromuscular structures that travel across the ventricular cavity. Left ventricular false tendons (LVFTs) have been examined through gross dissection and echocardiography. This study aimed to comprehensively evaluate the prevalence, morphology, and clinical importance of ventricular false tendons using a systematic review. In multiple studies, these structures have had a wide reported prevalence ranging from less than 1% to 100% of cases. This meta-analysis found the overall pooled prevalence of LVFTs to be 30.2%. Subgroup analysis indicated the prevalence to be 55.1% in cadaveric studies and 24.5% in living patients predominantly studied by echocardiography. Morphologically, left and right ventricular false tendons have been classified into several types based on their location and attachments. Studies have demonstrated false tendons have important clinical implications involving innocent murmurs, premature ventricular contractions, early repolarization, and impairment of systolic and diastolic function. Despite these potential complications, there is evidence demonstrating that the presence of false tendons can lead to positive clinical outcomes.
Topics: Humans; Heart Ventricles; Heart Defects, Congenital; Echocardiography; Clinical Relevance; Dissection
PubMed: 37819143
DOI: 10.1002/ca.24116 -
Journal of Intellectual Disability... Aug 2023Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not been systematically reviewed. Therefore, our aim was to provide a systematic review and meta-analysis on this topic.
METHODS
We identified all relevant case-control studies published by 1 January 2022, by searching the PubMed and Scopus databases for original English-language articles analysing the micronutrient status of individuals with DS. Forty studies were included in the systematic review and 31 in the meta-analysis.
RESULTS
Statistically significant differences between individuals with DS (cases) and non-DS (controls) (P ≤ 0.05) were obtained for zinc, selenium, copper, vitamin B12, sodium and calcium. Serum, plasma and whole blood analyses showed lower zinc levels in cases than controls {standardised mean difference [SMD] serum [95% confidence interval (CI)] = -2.32 [-3.22, -1.41], P < 0.00001; SMD plasma [95% CI] = -1.29 [-2.26, -0.31], P < 0.01; SMD blood [95% CI] = -1.59 [-2.29, -0.89], P < 0.00001}. Similarly, plasma and blood selenium concentrations were significantly lower in cases than controls (SMD plasma [95% CI] = -1.39 [-2.26, -0.51], P = 0.002; SMD blood [95% CI] = -1.86 [-2.59, -1.13], P < 0.00001). Intraerythrocytic copper and serum B12 were higher in cases than controls (SMD Cu [95% CI] = 3.33 [2.19, 4.46], P < 0.00001; SMD B12 [95% CI] = 0.89 [0.01, 1.77], P = 0.048). Blood calcium was lower in cases than controls (SMD Ca [95% CI] = -0.77 [-1.34, -0.21], P = 0.007).
CONCLUSIONS
This study provides the first systematic overview of micronutrient status in children and adolescents with DS and has shown that relatively little consistent research has been executed in this field. There is a clear need for more well-designed, clinical trials to study the micronutrient status and effects of dietary supplements in children and adolescents with DS.
Topics: Child; Humans; Adolescent; Micronutrients; Down Syndrome; Selenium; Copper; Calcium; Zinc
PubMed: 37218392
DOI: 10.1111/jir.13042 -
Journal of Oral Rehabilitation Dec 2023Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS).... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS). Understanding the prevalence of bruxism in this population is crucial for developing effective management strategies. This systematic review and meta-analysis is aimed to investigate the prevalence of bruxism among individuals with DS and explore its association with other oral health issues.
METHODS
A comprehensive search was conducted across multiple electronic databases to identify relevant studies. Cross-sectional and observational studies were included. Data on bruxism prevalence and associated factors were extracted, and a meta-analysis was performed using both fixed-effects (FE) and random-effects (RE) models of MedCalc software. Heterogeneity among studies was assessed using I statistics. New Castle-Ottawa Scale was used to evaluate methodological quality of the included studies.
RESULTS
Eight studies met the pre-defined inclusion criteria and were included in the analysis. Seven studies used a questionnaire to assess bruxism. The pooled proportion estimate for occurrence of DS across the included studies was found to be 0.33 (95% CI: 0.22-0.45) as per the RE model and 0.35 (95% CI: 0.31-0.450) as per FE model in the quantitative analysis. All studies exhibited good methodological quality.
CONCLUSION
This systematic review and meta-analysis provide evidence of a significant prevalence of bruxism among individuals with DS. The findings highlight the association of bruxism with other oral health issues and specific chromosomal abnormalities. Comprehensive oral health assessments, including diagnostic procedures like Polysomnography, are essential for addressing the unique oral health needs of individuals with DS. Further studies are recommended with a valid tool for the diagnosis. Early interventions and management strategies need to be tailored to this population, considering the multifaceted nature of oral health concerns in individuals with DS.
Topics: Humans; Bruxism; Prevalence; Down Syndrome; Cross-Sectional Studies; Surveys and Questionnaires; Sleep Bruxism
PubMed: 37507203
DOI: 10.1111/joor.13563 -
European Archives of... Nov 2023This study aimed to assess the changes in spirometry parameters or indices after relieving laryngotracheal stenosis (LTS) in adult patients. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
This study aimed to assess the changes in spirometry parameters or indices after relieving laryngotracheal stenosis (LTS) in adult patients.
METHODS
A systematic review and meta-analysis of studies from PubMed, Scopus, Web of Science, Cochrane Library, and EBSCO databases was conducted for assessing changes in spirometry values after endoscopic balloon dilatation of LTS in adults. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. Relevant data, such as changes in mean spirometry values between preoperative and postoperative interventions, and findings of receiver operating characteristic curve analyses for predicting the need for surgical intervention, were extracted.
RESULTS
Ten studies including 330 patients overall met the inclusion criteria. Significant improvements were observed from preoperative to postoperative mean values of different spirometry parameters and indices. The overall mean differences in peak expiratory flow (ΔPEF), expiratory disproportion index (ΔEDI), and peak inspiratory flow (ΔPIF) were 2.26 L/s (95% CI 2.14-2.38), 27.94 s (95% CI 26.36-29.52), and 1.21 L/s (95% CI 0.95-1.47), respectively. ΔPEF and ΔPIF values increased, while ΔEDI decreased. In predicting the need for surgical intervention, EDI had the highest sensitivity (88%), and forced expiratory volume per second/forced vital capacity had the highest specificity (85%).
CONCLUSION
Spirometry is a valuable tool for assessing patients with LTS. PEF, EDI, and PIF were the most commonly reported spirometry parameters that significantly improved after airway stenosis was relieved.
Topics: Adult; Humans; Constriction, Pathologic; Spirometry; Tracheal Stenosis; Respiratory Function Tests; ROC Curve; Laryngostenosis
PubMed: 37522909
DOI: 10.1007/s00405-023-08159-7 -
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 -
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