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Bone Feb 2024Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live... (Review)
Review
INTRODUCTION
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live births. Typical features of AMC include multiple joint contractures present at birth, and can affect all joints of the body, from the jaw, and involving the upper limbs, lower limbs and spine. The jaws may be affected in 25 % of individuals with AMC, with limited jaw movement and mouth opening. Other oral and maxillofacial deformities may be present in AMC, including cleft palate, micrognathia, periodontitis and delayed teething. To our knowledge, oral and maxillofacial abnormalities have not been systematically assessed in individuals with AMC. Therefore, this scoping review was conducted to identify, collect, and describe a comprehensive map of the existing knowledge on dental and maxillofacial involvement in individuals with AMC.
METHODOLOGY
A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines. The PRISMA guidelines for scoping reviews were followed and databases were searched for empirical articles in English and French published until October 2022. We searched MEDLINE, Embase, Web of Science and ERIC databases. Two authors independently reviewed the articles and extracted the data.
RESULTS
Of a total of 997 studies that were identified, 96 met the inclusion criteria and were subsequently included in this scoping review. These 96 studies collectively provided insights into 167 patients who exhibited some form of oral and/or maxillofacial involvement. Notably, 25 % of these patients were within the age range of 0-6 months. It is worth highlighting that only 22 out of the 96 studies (22.9 %), had the primary objective of evaluating dental and/or maxillofacial deformities. Among the patients studied, a prevalent pattern emerged, revealing that severe anomalies such as micrognathia (56 %), high-arched palate (29 %), cleft palate (40 %), limited mouth opening (31 %), and dental anomalies (28 %) were frequently observed. Importantly, many of these patients were found to have more than one of these anomalies. Even though these maxillofacial impairments are known to be associated with dental problems (e.g., cleft palate is associated with oligodontia, hypodontia, and malocclusion), their secondary effects on the dental phenotype were not reported in the studies.
CONCLUSION
Our findings have uncovered a notable deficiency in existing literature concerning dental and maxillofacial manifestations in AMC. This underscores the need for interdisciplinary collaboration and the undertaking of extensive prospective cohort studies focused on AMC. These studies should assess the oral and maxillofacial abnormalities that can impact daily functioning and overall quality of life.
Topics: Infant, Newborn; Humans; Infant; Arthrogryposis; Cleft Palate; Micrognathism; Prospective Studies; Quality of Life
PubMed: 37951521
DOI: 10.1016/j.bone.2023.116955 -
Ultrasound in Obstetrics & Gynecology :... Apr 2024The finding of an abdominal cyst during pregnancy has an estimated prevalence of 1 in 1000 pregnancies, mostly in second and third trimester. The detection of a fetal... (Review)
Review
OBJECTIVES
The finding of an abdominal cyst during pregnancy has an estimated prevalence of 1 in 1000 pregnancies, mostly in second and third trimester. The detection of a fetal abdominal cyst during the first trimester scan is a rare event, whose natural history and prognosis are often unknown and unpredictable as these anomalies can be related to various underlying conditions and originate from different structures. The aim of this study is to evaluate the outcome of fetal abdominal cysts detected in the first trimester in order to understand their possible clinical significance and to offer the proper management according to the available data.
METHODS
We present a case report of a first trimester fetal abdominal cyst detected with subsequent diagnosis of congenital multiple arthrogryposis and we performed a systematic review of the literature to identify the incidence and the outcomes of similar cases. The systematic literature review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and registered with PROSPERO (CRD42023491729).
RESULTS
A total of 60 cases of first trimester abdominal cysts were included. Of these, 35% were associated with concurrent or late onset structural anomalies, as in our case report, and 65% were isolated. In pregnancies with isolated fetal abdominal cysts, 56% had a completely normal outcome.
CONCLUSIONS
The finding of an abdominal cyst during the first trimester of pregnancy is in most cases an isolated event with a moderate to good prognosis but it could also be an early sign of other associated abnormalities, including arthrogryposis. Increased ultrasound surveillance and additional genetic testing to rule out possible associated anomalies are pivotal to assess the risk of adverse pregnancy outcomes and to provide appropriate counselling to the patient. This article is protected by copyright. All rights reserved.
PubMed: 38642342
DOI: 10.1002/uog.27663 -
Journal of Children's Orthopaedics Feb 2024The aim of this systematic review was to address the Ponseti method in arthrogrypotic clubfoot treatment and evaluate the success, complication, and recurrence rates. (Review)
Review
PURPOSE
The aim of this systematic review was to address the Ponseti method in arthrogrypotic clubfoot treatment and evaluate the success, complication, and recurrence rates.
METHOD
A systematic review was performed in the PubMed, Scopus, Embase, and Web of Science databases on 9 January 2023, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Success, recurrence, and complication rates were evaluated and analyzed. Risks of bias and the quality of the studies were also evaluated.
RESULTS
Five case series, including 53 patients (102 feet), were identified. According to this model, the initial success rate was 91% (95% confidence interval = 0.79-0.96) with = 43%, and the final success was 68% (at 5.8 years of follow-up). Recurrence rate was 30% (95% confidence interval = 0.14-0.52).
CONCLUSION
Ponseti method is indicated in the initial treatment of arthrogrypotic clubfeet, as it is a minimally invasive method with a high correction rate (91%). However, a high recurrence rate (30%) requires early detection and adequate treatment.
LEVEL OF EVIDENCE
Level III.
PROSPERO PROTOCOL
CRD42020210373.
PubMed: 38348434
DOI: 10.1177/18632521231214778 -
American Journal of Obstetrics and... Apr 2024This study aimed to synthesize the existing evidence on perinatal outcomes after autologous cryopreserved ovarian tissue transplantation, concurrently identifying key... (Review)
Review
OBJECTIVE
This study aimed to synthesize the existing evidence on perinatal outcomes after autologous cryopreserved ovarian tissue transplantation, concurrently identifying key factors influencing these outcomes.
DATA SOURCES
A comprehensive search was performed on MEDLINE, Embase, and Cochrane Library databases to identify relevant studies on the effect of autologous cryopreserved ovarian tissue transplantation on perinatal outcomes from inception to October 22, 2023. Where there was missing information, the authors were contacted for updated data.
STUDY ELIGIBILITY CRITERIA
Observational studies, such as cohort studies, case series, and case reports that reported a live birth after autologous cryopreserved ovarian tissue transplantation, were considered eligible. Studies lacking data on women's demographic characteristics, autologous cryopreserved ovarian tissue transplantation procedure details, or perinatal outcomes were excluded. In addition, cases involving fresh or nonautologous transplantations and those addressing primary ovarian insufficiency were excluded.
METHODS
Two reviewers (M.E. and E.U.) independently performed the study selection, data extraction, and risk of bias assessment, and the results were then reviewed together. The PRISMA guidelines were followed, and the protocol was registered on PROSPERO (CRD42023469296).
RESULTS
This review included 58 studies composed of 122 women with 162 deliveries (154 singletons and 8 twins) after autologous cryopreserved ovarian tissue transplantation, resulting in 170 newborns. Of note, 83.6% of the women had a malignant disease. Moreover, most of these women (51.0%) were exposed to some form of chemotherapy before ovarian tissue cryopreservation. Of the 162 childbirths, 108 (66.7%) were conceived naturally, and 54 (33.3%) were conceived through assisted reproductive techniques. The birthweight of 88.5% of newborns was appropriate for gestational age, whereas 8.3% and 3.1% were small for gestational age and large for gestational age, respectively. The preterm birth rate was 9.4%, with the remaining being term deliveries. Hypertensive disorders of pregnancy were noted in 18.9% of women, including pregnancy-induced hypertension in 7.6%, preeclampsia in 9.4%, and hemolysis, elevated liver enzymes, and low platelet count in 1.9%. The incidences of gestational diabetes mellitus and preterm premature rupture of membranes were 3.8% for each condition. Neonatal anomalies were reported in 3 transplant recipients with 4 newborns: arthrogryposis, congenital cataract, and diaphragmatic hernia in a twin. Finally, among the recipients' characteristics, not receiving chemotherapy before ovarian tissue cryopreservation (odds ratio, 0.23; 95% confidence interval, 0.07-0.72; P=.012) and natural conception (odds ratio, 0.29; 95% confidence interval, 0.09-0.92; P=.035) were associated with a lower perinatal complication rate.
CONCLUSION
On the basis of low certainty evidence from observational studies, perinatal complication rates did not increase after autologous cryopreserved ovarian tissue transplantation compared with the general pregnant population, except for preeclampsia. This could be due to chemotherapy exposure, underlying medical conditions, and the common use of assisted reproductive techniques. Further larger studies are needed to explore the causes of increased preeclampsia incidence in autologous cryopreserved ovarian tissue transplantation pregnancies.
PubMed: 38621483
DOI: 10.1016/j.ajog.2024.04.012