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Frontiers in Neurology 2021is one of the most common epilepsy genes. About 80% of gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More... (Review)
Review
is one of the most common epilepsy genes. About 80% of gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in . Although it is known that is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of . The aim of this study is to systematically review the literature associated with and other non-DS-related disorders. We searched PubMed and SCOPUS for all the published cases related to gene mutations of until October 20, 2021. The results reported by each study were summarized narratively. The PubMed and SCOPUS search yielded 2,889 items. A total of 453 studies published between 2005 and 2020 met the final inclusion criteria. Overall, 303 studies on DS, 93 on GEFS+, three on Doose syndrome, nine on the epilepsy of infancy with migrating focal seizures (EIMFS), six on the West syndrome, two on the Lennox-Gastaut syndrome (LGS), one on the Rett syndrome, seven on the nonsyndromic epileptic encephalopathy (NEE), 19 on hemiplegia migraine, six on autism spectrum disorder (ASD), two on nonepileptic -related sudden deaths, and two on the arthrogryposis multiplex congenital were included. Aside from DS, also causes other epileptic encephalopathies, such as GEFS+, Doose syndrome, EIMFS, West syndrome, LGS, Rett syndrome, and NEE. In addition to epilepsy, hemiplegic migraine, ASD, sudden death, and arthrogryposis multiplex congenital can also be caused by mutations of .
PubMed: 35002916
DOI: 10.3389/fneur.2021.743726 -
Children (Basel, Switzerland) Apr 2023Arthrogryposis multiplex congenita is a condition characterised by contractures and deformity in two or more body areas. Physiotherapy may be an appropriate treatment.... (Review)
Review
Arthrogryposis multiplex congenita is a condition characterised by contractures and deformity in two or more body areas. Physiotherapy may be an appropriate treatment. The aim was to systematically review the evidence for rehabilitation in arthrogryposis multiplex congenita. A systematic review was performed following the PRISMA 2020 criteria. The search was conducted in PubMed, ScienceDirect, Scielo, Scopus, Web of Science, ENFISPO, JSTOR, Google Scholar, ProQuest, Cochrane Library and PEDro from inception until October 2022. To assess the methodological quality, we used the different aspects of the critical appraisal tool JBI. We included 14 studies (6 case reports, 5 case series, 2 cross-sectional and 1 qualitative study). Sample sizes ranged from 1 to 50 participants, with an age range between 11 days and 35 years. Most studies employed multicomponent therapy, mainly kinesitherapy, massage therapy, use of physical agents and stretching, some combined it with orthopaedic therapy, or it was complementary to surgical treatment. The key to improving the clinical picture was early and individualised care, tailored to the characteristics of the patients. Regarding methodological quality, the main conflicts encountered were in the reporting of participant characteristics and experimental interventions. Rehabilitation provides satisfactory results in the treatment of arthrogryposis multiplex congenita. More scientific production and randomised clinical trials are needed.
PubMed: 37238316
DOI: 10.3390/children10050768 -
PloS One 2020The signs and symptoms of Zika virus infection are usually mild and self-limited. However, the disease has been linked to neurological complications such as...
BACKGROUND
The signs and symptoms of Zika virus infection are usually mild and self-limited. However, the disease has been linked to neurological complications such as Guillain-Barré syndrome and peripheral nerve involvement, and also to abortion and fetal deaths due to vertical transmission, resulting in various congenital malformations in newborns, including microcephaly. This review aimed to describe the o signs and symptoms that characterize the congenital Zika syndrome.
METHODS AND FINDINGS
A systematic review was performed with a protocol and described according to the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. The search strategy yielded 2,048 studies. After the exclusion of duplicates and application of inclusion criteria, 46 studies were included. The main signs and symptoms associated with the congenital Zika syndrome were microcephaly, parenchymal or cerebellar calcifications, ventriculomegaly, central nervous system hypoplasia or atrophy, arthrogryposis, ocular findings in the posterior and anterior segments, abnormal visual function and low birthweight for gestational age.
CONCLUSIONS
Zika virus infection during pregnancy can cause a series of changes in the growth and development of children, while impacting the healthcare system due to the severity of cases. Our findings outline the disease profile in newborns and infants and may contribute to the development and updating of more specific clinical protocols.
Topics: Child Development; Female; Guillain-Barre Syndrome; Humans; Infant; Infant, Newborn; Infectious Disease Transmission, Vertical; Nervous System Malformations; Pregnancy; Pregnancy Complications, Infectious; Syndrome; Zika Virus; Zika Virus Infection
PubMed: 33320867
DOI: 10.1371/journal.pone.0242367 -
Pediatric Neurology Sep 2020Intrauterine Zika virus infection is associated with neurological disorders and other problems, including such as impaired visual and hearing function and orthopedic... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Intrauterine Zika virus infection is associated with neurological disorders and other problems, including such as impaired visual and hearing function and orthopedic abnormalities, including arthrogryposis. We systematically investigated the prevalence of arthrogryposis in infants with congenital Zika syndrome and the respective risk of mortality.
METHODS
We conducted a systematic review and meta-analysis of reports published in PubMed, Web of Science, SCOPUS, and World Health Organization Global Index Medicus databases, using the keywords Zika virus and arthrogryposis and related terms.
RESULTS
After screening titles and abstracts, a total of four studies were included. Arthrogryposis was not associated with increased risk for fetal demise (risk ratio, 3.33; 95% confidence interval, 0.73 to 15.26). However, arthrogryposis was associated with a 13-fold increased risk of mortality in neonates with congenital Zika syndrome (risk ratio, 13.11; 95% confidence interval, 3.74 to 45.92) than neonates with congenital Zika syndrome but without arthrogryposis.
CONCLUSIONS
Neonates with both congenital Zika syndrome and arthrogryposis had higher morbidity and mortality risks, making it necessary to implement protocols for the early identification of neuromuscular changes and appropriate management of patients.
Topics: Arthrogryposis; Female; Humans; Infant, Newborn; Pregnancy; Pregnancy Complications, Infectious; Zika Virus Infection
PubMed: 32646676
DOI: 10.1016/j.pediatrneurol.2020.05.007 -
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 -
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 -
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 -
Archives of Plastic Surgery Mar 2023Digital extensor hypoplasia (DEH) is a rare malformation that presents with loss of active finger extension at the metacarpophalangeal (MCP) joints. Descriptions of...
Digital extensor hypoplasia (DEH) is a rare malformation that presents with loss of active finger extension at the metacarpophalangeal (MCP) joints. Descriptions of optimal treatment and outcomes in this population are sparse. We describe successful operative treatment of a child with DEH involving the extensor digitorum communis, extensor digiti minimi, and the extensor indicis proprius tendons. The 5-year-old male patient was referred for severe limitation on bilateral finger extension since birth. He had been previously diagnosed with arthrogryposis and managed conservatively. Due to lack of improvement, magnetic resonance imaging was done evidencing hypoplasia/aplasia of the extensor tendons. The patient underwent successful tendon transfers using extensor carpi radialis longus to the common extensor tendons, and one hand required an additional tenolysis procedure. 2 years postoperatively, his MCP position and finger extension are markedly improved, and he is able to grip objects without limitation or difficulty. The patient returned to full activity without restriction.
PubMed: 36999153
DOI: 10.1055/s-0042-1757311 -
Foot and Ankle Surgery : Official... Jan 2023Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in... (Review)
Review
BACKGROUND
Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in AMC, but the literature is limited. The purpose of this systematic review is to evaluate the indications, outcomes and complications of talectomy in arthrogrypotic foot deformities.
METHODS
The articles were found through Embase and Medline. Screening was conducted by two independent investigators with disagreements resolved by a third reviewer. Relevant data regarding demographics, outcomes and complications were collected.
RESULTS
Of 232 feet, 71.98 % and 62.22 % had clinical and radiographic improvements respectively. Amongst 122 patients, 92.62 % could ambulate following surgery. Recurrent deformities and revision surgery were seen in 16.81 % and 13.36 % of cases respectively.
CONCLUSIONS
Talectomy is a valid surgical option for severe arthrogrypotic foot deformities with favorable post-operative outcomes and low complication rate.
Topics: Humans; Arthrogryposis; Clubfoot; Talus; Foot; Orthopedic Procedures; Joint Dislocations
PubMed: 36266132
DOI: 10.1016/j.fas.2022.10.002 -
Case Reports in Medicine 2020Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by...
Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the (contactin associated protein 1) gene, playing an important role in myelination. Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood. We report on a 7-year-old boy from a nonconsanguineous Lebanese family presenting with neonatal hypotonia, respiratory distress, and arthrogryposis. Molecular analysis revealed the presence of a pathogenic variant in the gene leading to a premature stop codon: NM_003632.2:c.3361C>T p.(Arg1121 ). A review of the literature is discussed.
PubMed: 32328110
DOI: 10.1155/2020/8795607