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JPRAS Open Dec 2022Optimal management of pedunculated ulnar polydactyly is not defined. This systematic review summarises objective and patient-reported outcomes following primary... (Review)
Review
Optimal management of pedunculated ulnar polydactyly is not defined. This systematic review summarises objective and patient-reported outcomes following primary treatment. Two authors screened articles for inclusion according to a PROSPERO published protocol. The meta-analysis of adverse events was performed, and a narrative synthesis of satisfaction and patient-reported outcomes was reported. The risk of bias was assessed using Cochrane's ROBINS-I tool. Of 1650 articles identified, 15 were eligible, including 13 single-arm and 2 multi-arm studies. Complications were 6 times as likely with ligation procedures (22%), compared to surgical removal (1%) whether this was performed in the outpatient setting or operating theatre (OR 6.89 [95% CI 1.73, 27]). Parent-reported satisfaction was high for all treatments. Studies were at high risk of bias and low methodological quality. Outcome measurement and follow-up were heterogenous. Well-designed prospective observational and experimental studies are required to inform practice, incorporating clinician and parent-reported outcomes and economic analyses. Level of evidence: I.
PubMed: 36120500
DOI: 10.1016/j.jpra.2022.05.002 -
Hand (New York, N.Y.) May 2020Ulnar polydactyly is frequently encountered in the newborn nursery and is commonly treated with bedside suture ligation. However, growing concern about the...
Ulnar polydactyly is frequently encountered in the newborn nursery and is commonly treated with bedside suture ligation. However, growing concern about the complications associated with suture ligation has led some practitioners to advocate for primary surgical excision instead. Thus, we set out to compare outcomes of suture ligation and surgical excision by systematic appraisal of the literature. Following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, a systematic review was performed to identify studies published between 1950 and 2017 that described outcomes of suture ligation, surgical excision, or both. Baseline characteristics, complications, and study quality were extracted for each included article. A total of 900 articles were reviewed, of which 10 studies (8 case series, 2 comparative analyses) met the inclusion criteria. There was considerable heterogeneity among the studies with respect to patient characteristics and reported outcomes. There were 2 retrospective case series of suture ligation that reported no acute complications and a variable proportion of patients with residual remnants or neuromas. Studies evaluating surgical ligation reported no acute or long-term complications, with only 1 case series reporting a small percentage of residual remnants. However, in the largest cohort analysis, the difference in complication rate was reported to be as high as 23.5% for suture ligation compared with 3% for surgical excision. There is a paucity of literature limiting the comparison of suture ligation and surgical excision for ulnar polydactyly. Further studies are required to determine the optimal treatment.
Topics: Fingers; Humans; Infant, Newborn; Polydactyly; Retrospective Studies; Sutures; Toes
PubMed: 30417703
DOI: 10.1177/1558944718810885 -
Journal of Clinical Medicine Jun 2023Maternal smoking during pregnancy has been associated with adverse effects on foetal development, including congenital limb anomalies. This systematic review aimed to... (Review)
Review
Maternal smoking during pregnancy has been associated with adverse effects on foetal development, including congenital limb anomalies. This systematic review aimed to provide an updated assessment of the association between maternal smoking during pregnancy and the risk of congenital limb anomalies. A systematic search was conducted to identify relevant studies published up to February 2023. Studies reporting on the relationship between maternal smoking during pregnancy and congenital digital anomalies or congenital limb reduction defects were included. Two independent reviewers screened the studies, extracted data, and assessed the quality of the included studies. Meta-analyses were performed to estimate the pooled odds ratios with 95% confidence intervals using fixed and random-effects models. In total, 37 publications comprising 11 cohort and 26 case-control studies were included in the systematic review. The meta-analysis demonstrated a significant increased risk of congenital limb reduction defects (pooled OR: 1.27, 95% CI: 1.18-1.38) in infants born to mothers who smoked during pregnancy. Similarly, a significant relationship was observed for the development of polydactyly/syndactyly/adactyly when considered as a single group (pooled OR: 1.32, 95% CI: 1.25-1.40). Yet, in contrast, no significant association was observed when polydactyly (pooled OR: 1.06, 95% CI: 0.88-1.27) or syndactyly (pooled OR: 0.91, 95% CI: 0.77-1.08) were considered individually. This systematic review provides updated evidence of a significant relationship between maternal smoking during pregnancy and increased risk of congenital limb anomalies. These findings highlight the potential detrimental effects of smoking on foetal limb development and underscore the importance of smoking cessation interventions for pregnant women to mitigate these risks.
PubMed: 37445217
DOI: 10.3390/jcm12134181 -
Frontiers in Genetics 2023To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). The Chinese Wanfang and...
To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022. Patients with detailed clinical feature data were involved in the analysis. A total of 153 Chinese patients, including 87 males, 53 females, and 12 unknown, were enrolled. Their ages ranged from 1.2 to 44 years old with a mean of 16.70 ± 9.90 years old. Among these patients, 80 (52.29%) were reported by ophthalmologists, and only 24 (15.68%) reported by pediatricians. Most patients (132/137, 96.35%) had visual problems; 131/153 (85.62%) had polydactyly; 124/132 (93.93%) were overweight or obese; 63/114 (55.26%) had renal abnormalities; kidney dysfunction was found in 33 (21.57%); 83/104 (79.81%) had hypogonadism and/or genital hypoplasia; and 111/136 (81.62%) had mental retardation. In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 (24.71%), 20 (22.73%), and 10 (11.24%) patients. Moreover, 11 fetuses were diagnosed prenatally in the last 4 years except for one patient in 2004 year. It was noted that had higher penetrance. had higher hearing impairment and lower renal abnormality penetrance. also had lower renal abnormality penetrance as well. Misdiagnosis or miss diagnosis of BBS may be common in China. In patients with polydactyly, visual impairment, obesity, renal abnormalities, hypogonadism, and mental retardation, or in fetuses with polydactyly and/or renal abnormalities, BBS should be considered in the differential diagnosis. Other deformities should be evaluated carefully and genetic analysis should be performed as early as possible.
PubMed: 38034494
DOI: 10.3389/fgene.2023.1247557 -
British Journal of Clinical Pharmacology Jan 2014The aims of this review were to summarize the scientific evidence about the risks of using methylphenidate for ADHD in pregnancy and lactation, to present a case in... (Review)
Review
AIMS
The aims of this review were to summarize the scientific evidence about the risks of using methylphenidate for ADHD in pregnancy and lactation, to present a case in which interruption of treatment after delivery and during breastfeeding was harmful and to discuss the implications of treating or not treating ADHD in pregnancy and lactation.
METHODS
For the systematic review, databases searched included Pubmed, Psychinfo, Web of Science, Embase, Biosis and Medline.
RESULTS
Three articles were found with a total sample of 41 children exposed to methylphenidate in pregnancy. Malformations reported included congenital heart defects (n = 2), finger abnormalities (syndactyly, adactyly and polydactyly n = 2) and limb malformations (n = 1). Other problems included premature birth, asphyxia and growth retardation. One case report (n = 1) and one case series (n = 3) were identified regarding exposure to methylphenidate through breast feeding. In all cases, children developed normally and no adverse effects were reported. In our case report we describe an infant exposed to methylphenidate during pregnancy and breast feeding, who developed normally having no detectable congenital abnormalities.
CONCLUSIONS
The number and size of the studies found were small. Identified cases were not representative of the general adult ADHD population having methylphenidate as monotherapy during pregnancy as all the articles reported combinations of methylphenidate with either known teratogenic drugs or drugs of abuse. There is a paucity of data regarding the use of methylphenidate in pregnancy and further studies are required. Although the default medical position is to interrupt any non-essential pharmacological treatment during pregnancy and lactation, in ADHD this may present a significant risk. Doctors need to evaluate each case carefully before interrupting treatment.
Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Breast Feeding; Child Development; Female; Humans; Infant; Lactation; Methylphenidate; Pregnancy; Prenatal Exposure Delayed Effects; Young Adult
PubMed: 23593966
DOI: 10.1111/bcp.12138 -
Journal of Neurology Sep 2020Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is... (Meta-Analysis)
Meta-Analysis
Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited. The present study aims to summarize previous studies by performing a systematic review and meta-analyses. The terms "multiple sclerosis" combined with DMDs of interest and a broad profile for pregnancy terms were used to search Embase and Medline databases to identify relevant studies published from January 2000 to July 2019.1260 studies were identified and ten studies met our inclusion criteria. Pooled risk ratios (RR) of pregnancy and birth outcomes in pregnancies exposed to DMDs compared to those not exposed were calculated using a random effects model. For spontaneous abortion RR = 1.14, 95% CI 0.99-1.32, for preterm births RR = 0.93, 95% CI 0.72-1.21 and for major congenital malformations RR = 0.86, 95% CI 0.47-1.56. The most common major congenital malformations reported in MS patients exposed to MS drugs were atrial septal defect (ASD) (N = 4), polydactyly (N = 4) and club foot (N = 3), which are among the most prevalent birth defects observed in the general population. In conclusion, interferons, glatiramer acetate or natalizumab, do not appear to increase the risk for spontaneous abortions, pre-term birth or major congenital malformations. There were very few patients included that were exposed to fingolimod, azathioprine and rituximab; therefore, these results cannot be generalized across drugs. Future studies including internal comparators are needed to enable treating physicians and their patients to decide on the best treatment options.
Topics: Abortion, Spontaneous; Female; Glatiramer Acetate; Humans; Infant, Newborn; Multiple Sclerosis; Natalizumab; Pregnancy
PubMed: 32444984
DOI: 10.1007/s00415-020-09913-1