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Foot (Edinburgh, Scotland) Dec 2021The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited... (Review)
Review
INTRODUCTION
The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited visualization leading to an incomplete resection and possible recurrence of the tarsal coalition. Arthroscopic tarsal coalition resection (TCR) is an alternative that is gaining traction, primarily as the safety profile of posterior ankle and subtalar arthroscopy is more well understood. This study provides a systematic review of the outcomes of arthroscopic TCR.
METHODS
PubMed and Embase were searched independently by 2 reviewers for relevant articles based on predetermined criteria. The subject heading "tarsal coalition" and its related key terms were used.
RESULTS
A total of 416 studies were revealed by the initial search, out of which only 6 met our predetermined inclusion criteria. A total of 42 patients (average age: 17.6 years) were treated with arthroscopic TCR. Thirty-three (78.6%) and 9 (21.4%) patients had talocalcaneal and calcaneonavicular coalitions, respectively. The follow-up period ranged from 6 to 60 months (mean: 26 months), and no recurrence of the tarsal coalition was detected (0.0%). Complications occurred in two (4.8%) patients only, with one developing complex regional pain syndrome (CRPS), and another patient developing hyperesthesia on the medial aspect of the calcaneus.
CONCLUSION
Arthroscopic TCR is a feasible and effective surgery for both CNC and TCC with minimal complications and no disease recurrence at an average of 26 months follow-up. Future high-level of evidence studies are needed to compare the outcomes of open versus arthroscopic TCR.
Topics: Adolescent; Arthroscopy; Calcaneus; Humans; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 34597922
DOI: 10.1016/j.foot.2021.101864 -
Journal of the Peripheral Nervous... Sep 2023Several widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be... (Review)
Review
BACKGROUND AND AIMS
Several widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be neurotoxic. There are concerns about the use of these drugs in patients with Charcot-Marie-Tooth disease (CMT), a hereditary motor and sensory neuropathy. This review provides evidence-based updated recommendations on this clinically relevant topic.
METHODS
A systematic review of the available studies/reports written in English was performed from July to September 2022 including in the search string all reported putative neurotoxic drugs.
RESULTS
The results of our systematic review provide evidence-based support for the statement that use of vincristine, and possibly paclitaxel, can occasionally induce an atypical, and more severe, course of drug-related peripheral neurotoxicity in CMT patients. It is therefore reasonable to recommend caution in the use of these compounds in CMT patients. However, no convincing evidence for a similar recommendation could be found for all other drugs.
INTERPRETATION
It is important that patients with CMT are not denied effective treatments that may prolong life expectancy for cancer or improve their health status if affected by non-oncological diseases. Accurate monitoring of peripheral nerve function in CMT patients treated with any neurotoxic agent remains mandatory to detect the earliest signs of neuropathy worsening and atypical clinical courses. Neurologists monitoring CMT patients as part of their normal care package or for natural history studies should keep detailed records of exposures to neurotoxic medications and support reporting of accelerated neuropathy progression if observed.
Topics: Humans; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy; Neoplasms; Neurotoxicity Syndromes
PubMed: 37249082
DOI: 10.1111/jns.12566 -
International Journal of Environmental... Oct 2022Hemorrhage of arteriovenous malformation (AVM) is a rare condition during pregnancy. This study was proposed to pool the proportion of AVM hemorrhage per pregnancy. A... (Meta-Analysis)
Meta-Analysis Review
Hemorrhage of arteriovenous malformation (AVM) is a rare condition during pregnancy. This study was proposed to pool the proportion of AVM hemorrhage per pregnancy. A systematic review and meta-analysis with three databases were performed to review the studies published until April 2022. The Newcastle Ottawa Scale was used for risk assessment of data quality. The meta-analysis was conducted by a generic inverse variance of double arcsine transformation with a random model using Stata software. Twelve studies were included in this review. The pooled proportion of AVM hemorrhage per pregnancy was 0.16 (95% CI: 0.08, 0.26). The subgroup analyses were carried out based on world regions and study designs, and the study duration with the highest proportion of each subgroup was Europe [0.35 (95% CI: 0.02, 0.79)], with retrospective review [0.18 (95% CI: 007, 0.32)] and 10 to 20 years of study duration [0.37 (95% CI: 0.06, 0.77)]. The AVM hemorrhage per pregnancy in this review was considered low. However, the conclusion must be carefully interpreted since this review had a small study limitation.
Topics: Pregnancy; Female; Humans; Intracranial Arteriovenous Malformations; Arteriovenous Fistula; Cerebral Hemorrhage; Retrospective Studies; Europe
PubMed: 36293763
DOI: 10.3390/ijerph192013183 -
Paediatric Respiratory Reviews Dec 2021Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems. (Review)
Review
CONTEXT
Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems.
OBJECTIVES
To give a scoping overview of encountered lower airway problems (both infectious and non-infectious) in DS children.
DATA SOURCES
We systematically searched the MEDLINE and PubMed databases for relevant publications.
STUDY SELECTION
Studies were eligible if they were original studies about pediatric airway problems in DS and were evaluated by the PRISMA guidelines.
DATA EXTRACTION
Data concerning patient characteristics, study methods and outcomes were critically reviewed.
RESULTS
Sixty papers were included. These were reviewed and summarized by topic, i.e. airway anomalies, dysphagia and aspiration, lower respiratory tract infections (and bronchiolitis in particular), pulmonary hypertension and other. Respiratory problems are proven to be a frequent and a major health burden in DS children. Airway anomalies (both single and multiple) are more prevalent and require a specific approach. A large proportion of DS children have (often silent) aspiration, resulting in protracted and difficult-to-treat symptoms. Respiratory tract infections are usually more severe and associated with an increased need for (prolonged) hospitalization. Pulmonary hypertension, wheeze and some other rare conditions are more commonly encountered in DS.
LIMITATIONS
Large number of studies and high levels of study heterogeneity.
CONCLUSIONS
Several lower airway problems are more frequent and more complex in children with DS. These findings emphasize the need for a multidisciplinary approach by an experienced team allowing for a prompt diagnosis, proper management and improved long term outcome.
Topics: Child; Down Syndrome; Humans; Hypertension, Pulmonary; Respiration Disorders; Respiratory Sounds; Respiratory Tract Infections
PubMed: 34148805
DOI: 10.1016/j.prrv.2021.04.006 -
International Journal of Paediatric... Jul 2022To conduct a systematic review and to evaluate the clinical parameters for periodontal diseases in individuals with cleft lip and/or palate (CL/P). (Meta-Analysis)
Meta-Analysis Review
AIM
To conduct a systematic review and to evaluate the clinical parameters for periodontal diseases in individuals with cleft lip and/or palate (CL/P).
DESIGN
The authors searched six indexed databases without any linguistic limitation through July 2021. The eligibility criteria were observational studies that compared the periodontal clinical measures of individuals with CL/P to those without CL/P. A meta-analysis was conducted using random-effects models with inverse variance weighting.
RESULTS
The literature search generated 1277 records, and 40 full-text articles were reviewed. Twenty-three studies comprising 3235 individuals from four continents fulfilled our selection criteria. The meta-analysis revealed a significant difference in mean plaque index scores (MD = 0.31, 95% CI = 0.22, 0.41), gingival index scores (MD = 0.50, 95% CI = 0.24, 0.77), and periodontal pocket depth (MD = 0.64, 95% CI = 0.12, 1.16) between individuals with and without CL/P. A slight increase in clinical attachment loss was detected among individuals with CL/P; however, such an increase may have little clinical significance.
CONCLUSIONS
As age is positively related to periodontal disease progression, and individuals with CL/P are more likely to present with more plaque accumulation and gingival inflammation, clinicians should reinforce preventive dental care from an early age.
Topics: Cleft Lip; Cleft Palate; Dental Plaque; Dental Plaque Index; Gingivitis; Humans; Periodontal Diseases
PubMed: 34626516
DOI: 10.1111/ipd.12934 -
Journal of Pediatric Urology Oct 2020To determine whether excising a testicular remnant or nubbin is necessary and perform a systematic review of the incidental ectopic adrenal cortical rest associated with... (Review)
Review
AIM
To determine whether excising a testicular remnant or nubbin is necessary and perform a systematic review of the incidental ectopic adrenal cortical rest associated with undescended testis.
MATERIAL AND METHODS
A retrospective analysis of impalpable undescended testis was carried out between May 2016 and June 2019. The demographic data, intra-operative findings and histopathological diagnosis were analyzed. In conjunction with this, systematic search of PUBMED and EMBASE database was performed by using the search terms "undescended testis" AND "ectopic adrenal tissue". Data was collected for demographic characteristics, size and appearance of ectopic adrenal cortical rest and histopathology. Quantitative data has been presented as medians. Categorical variables have been presented as percentages.
RESULT
We encountered 43 cases of impalpable undescended testis, out of which, nubbins were identified in 9 cases. Incidence of EACT in nubbin and impalpable UDT was 2/9 (22.22%) and 2/43 (4.7%) respectively. None of the excised nubbin had germ cells. On Systematic review, EACT associated with UDT was seen in 90/2501 (3.6%), while its association with testicular nubbin has been reported only once before in a case report.
CONCLUSION
A testicular nubbin is a condition wherein no viable testicular tissue can be grossly identified in a case of impalpable testis. Even when germ cells are not found in the excised nubbin, the presence of ectopic adrenal cortical rest make them prone to later malignant transformation. Association of EACT with UDT has been consistently reported but there is scarcity of such documentation in association with testicular nubbin.
Topics: Cryptorchidism; Gonadal Dysgenesis, 46,XY; Humans; Male; Rest; Retrospective Studies; Testis
PubMed: 32741641
DOI: 10.1016/j.jpurol.2020.07.011 -
International Journal of Pediatric... Nov 2020To evaluate outcomes of injection laryngoplasty (IL) and endoscopic surgical repair for the treatment of type 1 laryngeal clefts (LC1) and to determine the most common... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate outcomes of injection laryngoplasty (IL) and endoscopic surgical repair for the treatment of type 1 laryngeal clefts (LC1) and to determine the most common presentations of LC1.
METHODS
Primary studies were searched for in PubMed, Scopus, OVID, and Cochrane Library using search terms laryngeal cleft and laryngotracheoesophageal cleft for articles published from database inception through August 2019. The search identified all articles pertaining to the symptomatology and management of LC1. Meta-analysis was performed on presenting symptoms and improvement of clinical symptoms and swallow function.
RESULTS
Twenty-four studies, comprising 713 patients with a mean age of 33.7 months (range 0-168 months), were included. The most common presenting symptoms were aspiration (80%, CI [55%-96%]), dysphagia (61%, CI [47%-74%]), and choking (57%, CI [37%-76%]). Gastroesophageal reflux disease (GERD) was the most common comorbidity (68%, CI [51%-83%]) and premature birth comprised 27% [21%-32%] of the patients. Overall, 38% of patients received IL as a primary therapy. Prior to injection, 91% [87%-94%] of patients aspirated on swallow evaluations, and 62% [55%-68%] aspirated post-injection. At an average follow-up time of 6.8 months, 90% [70%-100%] of parents reported symptom improvement. An additional 54% of patients underwent endoscopic surgical repair as primary treatment. The rate of aspiration decreased from 73% [43%-94%] to 28% [13%-46%] after repair. At a mean follow-up of 14.2 months, 80% [67%-91%] reported symptom improvement.
CONCLUSION
A high level of clinical suspicion is necessary to detect LC1 since its most common presenting symptoms overlap with other diseases commonly found in this patient population. Both IL and formal surgical repair were effective in managing LC1.
Topics: Adolescent; Child; Child, Preschool; Congenital Abnormalities; Deglutition Disorders; Humans; Infant; Infant, Newborn; Laryngoplasty; Larynx; Retrospective Studies
PubMed: 33152963
DOI: 10.1016/j.ijporl.2020.110370 -
Ophthalmic Genetics Oct 2022Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome...
BACKGROUND
Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome 9p24.3. NCBRS typically presents with dysmorphic facial features, seizures, intellectual disability, and developmental delays. Abnormal findings of the eye and ocular adnexa associated with NCBRS have not been systematically evaluated and summarized in literature. This report presents the case of a 4-year-old male with NCBRS along with a systematic review of literature of the abnormal ophthalmologic and facial features of NCBRS cases.
METHODS
A systematic review of literature of published cases of molecularly confirmed NCBRS was performed and the frequencies of eye, ocular adnexa, and facial abnormalities were calculated.
RESULTS
Our patient's abnormal eye features include myopia, down slanting palpebral fissures, sagging inferior periorbital skin, hypertelorism, and long eyelashes. From the systemic review of literature, the most common abnormal eye and ocular adnexa features include prominent/long eyelashes, thick eyebrows, sagging periorbital skin, down slanting palpebral fissures, and ptosis. The most common facial dysmorphic features include thick/everted lower lip, coarse facial features, wide/large mouth, and thin upper lip. Dental abnormalities are also commonly reported.
CONCLUSIONS
NCBRS frequently presents with well-defined ophthalmic and facial abnormalities. Prompt ophthalmologic evaluation following NCBRS diagnosis may be recommended to screen for several eye disorders. Surgical correction of ptosis may be indicated for NCBRS patients. This report may help further delineate the phenotype of this condition, which may allow for more rapid identification of those affected and provide incentive for additional studies.
Topics: Abnormalities, Multiple; Facies; Foot Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Transcription Factors
PubMed: 35762114
DOI: 10.1080/13816810.2022.2089358 -
Clinical Genetics Sep 2023Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process.... (Meta-Analysis)
Meta-Analysis Review
Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype-phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively. We found all the patients presented selective failure of tooth eruption (SFTE). Primary failure of eruption patients with PTH1R mutations showed primary or isolated SFTE1 in the first and second molars (59.3% and 52% respectively). RUNX2 related cleidocranial dysplasia usually had SFTE2 in canines and premolars, while COL1A1/2 related osteogenesis imperfecta mostly caused SFTE3 in the maxillary second molars (22.9%). In CLCN7 related osteopetrosis, the second molars and mandibular first molars were the most affected. While FAM20A related enamel renal syndrome most caused SFTE5 in the second molars (86.2%) and maxillary canines. In conclusion, the SFTE was the common characteristics of most genetic diseases with abnormal isolated or syndromic tooth eruption. The selective pattern of unerupted teeth was gene-dependent. Here we recommend SFTE to classify those genetic unerupted teeth and guide for precise molecular diagnosis and treatment.
Topics: Humans; Tooth Eruption; Tooth, Unerupted; Core Binding Factor Alpha 1 Subunit; Tooth Abnormalities; Phenotype; Genotype; Chloride Channels
PubMed: 37448157
DOI: 10.1111/cge.14400 -
European Archives of... Aug 2023This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on... (Review)
Review
PURPOSE
This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on treatment efficacy but also on possible treatment-related adverse events, and treatment combinations with other techniques.
METHODS
Search criteria were applied to MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases and included all studies published up to March 2022 reporting paediatric lymphatic malformations treated with sirolimus. We selected all original studies that included treatment outcomes. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for patient demographics, lymphatic malformation type, size or stage, site, clinical response rates, sirolimus administration route and dose, related adverse events, follow-up time, and concurrent treatments.
RESULTS
Among 153 unique citations, 19 studies were considered eligible, with reported treatment data for 97 paediatric patients. Most studies (n = 9) were case reports. Clinical response was described for 89 patients, in whom 94 mild-to-moderate adverse events were reported. The most frequently administered treatment regimen was oral sirolimus 0.8 mg/m twice a day, with the aim of achieving a blood concentration of 10-15 ng/mL.
CONCLUSION
Despite promising results for sirolimus treatment in lymphatic malformation, the efficacy and safety profile of remains unclear due to the lack of high-quality studies. Systematic reporting of known side effects, especially in younger children, should assist clinicians in minimising treatment-associated risks. At the same time, we advocate for prospective multicentre studies with minimum reporting standards to facilitate improved candidate selection.
Topics: Humans; Child; Sirolimus; Prospective Studies; Treatment Outcome; Neck; Head; Lymphatic Abnormalities; Vascular Malformations
PubMed: 37115326
DOI: 10.1007/s00405-023-07991-1