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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 -
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 -
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 -
Acta Ortopedica Mexicana 2017Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually...
BACKGROUND
Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome.
METHODS
Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic.
RESULTS
A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B).
CONCLUSIONS
The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals economic possibilities.
Topics: Arthrogryposis; Casts, Surgical; Clubfoot; Humans; Infant; Mobius Syndrome; Orthopedic Procedures; Treatment Outcome
PubMed: 29216694
DOI: No ID Found -
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 -
Revista Brasileira de Ginecologia E... May 2017From the discovery of the Zika virus (ZIKV) in 1947 in Uganda (Africa), until its arrival in South America, it was not known that it would affect human reproductive life...
From the discovery of the Zika virus (ZIKV) in 1947 in Uganda (Africa), until its arrival in South America, it was not known that it would affect human reproductive life so severely. Today, damage to the central nervous system is known to be multiple, and microcephaly is considered the tip of the iceberg. Microcephaly actually represents the epilogue of this infection's devastating process on the central nervous system of embryos and fetuses. As a result of central nervous system aggression by the ZIKV, this infection brings the possibility of arthrogryposis, dysphagia, deafness and visual impairment. All of these changes of varying severity directly or indirectly compromise the future life of these children, and are already considered a congenital syndrome linked to the ZIKV. Diagnosis is one of the main difficulties in the approach of this infection. Considering the clinical part, it has manifestations common to infections by the dengue virus and the chikungunya fever, varying only in subjective intensities. The most frequent clinical variables are rash, febrile state, non-purulent conjunctivitis and arthralgia, among others. In terms of laboratory resources, there are also limitations to the subsidiary diagnosis. Molecular biology tests are based on polymerase chain reaction (PCR) with reverse transcriptase (RT) action, since the ZIKV is a ribonucleic acid (RNA) virus. The RT-PCR shows serum or plasma positivity for a short period of time, no more than five days after the onset of the signs and symptoms. The ZIKV urine test is positive for a longer period, up to 14 days. There are still no reliable techniques for the serological diagnosis of this infection. If there are no complications (meningoencephalitis or Guillain-Barré syndrome), further examination is unnecessary to assess systemic impairment. However, evidence is needed to rule out other infections that also cause rashes, such as dengue, chikungunya, syphilis, toxoplasmosis, cytomegalovirus, rubella, and herpes. There is no specific antiviral therapy against ZIKV, and the therapeutic approach to infected pregnant women is limited to the use of antipyretics and analgesics. Anti-inflammatory drugs should be avoided until the diagnosis of dengue is discarded. There is no need to modify the schedule of prenatal visits for pregnant women infected by ZIKV, but it is necessary to guarantee three ultrasound examinations during pregnancy for low-risk pregnancies, and monthly for pregnant women with confirmed ZIKV infection. Vaginal delivery and natural breastfeeding are advised.
Topics: Female; Humans; Infant, Newborn; Microcephaly; Pregnancy; Pregnancy Complications, Infectious; Prenatal Care; Zika Virus Infection
PubMed: 28575919
DOI: 10.1055/s-0037-1603450 -
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 -
Journal of Children's Orthopaedics Dec 2018Although non-idiopathic clubfeet were long thought to be resistant to non-surgical treatment methods, more studies documenting results on treatment of these feet with...
PURPOSE
Although non-idiopathic clubfeet were long thought to be resistant to non-surgical treatment methods, more studies documenting results on treatment of these feet with the Ponseti method are being published. The goal of this systematic review is to summarize current evidence on treatment of non-idiopathic clubfeet using the Ponseti method.
METHODS
PubMed and Limo were searched, reference lists of eligible studies were screened and studies that met the inclusion criteria were included. Data on average number of casts, Achilles tendon tenotomy (ATT), initial correction, recurrence, successful treatment at final follow-up and complications were pooled. The Methodological Index for Non-Randomized Studies was used to assess the methodological quality of the selected studies.
RESULTS
In all, 11 studies were included, yielding a total of 374 non-idiopathic and 801 idiopathic clubfeet. Non-idiopathic clubfeet required more casts (7.2 5.4) and had a higher rate of ATT (89.4% 75.7%). Furthermore, these feet had a higher recurrence rate (43.3% 11.5%) and a lower rate of successful treatment at final follow-up (69.3% 95.0%). Complications were found in 20.3% of the non--idiopathic cohort. When comparing results between clubfeet associated with myelomeningocele and arthrogryposis, the first group presented with a lower number of casts (5.4 - 7.2) and a higher rate of successful treatment at final follow-up (81.8% 58.2%).
CONCLUSION
The Ponseti method is a valuable and non-invasive option in the primary treatment of non-idiopathic clubfeet in young children. Studies with longer follow-up are necessary to evaluate its long-term effect.
LEVEL OF EVIDENCE
Level III - systematic review of Level-III studies.This work meets the requirements of the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and -Meta-Analyses).
PubMed: 30607204
DOI: 10.1302/1863-2548.12.180066 -
Asian Spine Journal Apr 2022Literature regarding pregnant women who sustained traumatic spinal injury during pregnancy is limited. Existing papers are mainly case reports, and this indicates a need...
Literature regarding pregnant women who sustained traumatic spinal injury during pregnancy is limited. Existing papers are mainly case reports, and this indicates a need for more high-quality research evidence in this area. Therefore, this study was designed to systematically review available literature that reported demographic information, clinical characteristics, and obstetric outcomes of women who sustained spinal injury during pregnancy. Studies published from the earliest record to January 2019, which reported traumatic spinal injury during pregnancy, were included. Studies that have reported pregnancy in patients with pre-existing spinal injury, review articles, commentaries, letter to editors, conference papers, and studies published in languages other than English were excluded. Sixteen studies reporting on 26 women were included. Their mean age was 26.7±5.5 years. Motor vehicle accidents were the main cause of spinal injury (n=15, 58%). Of the cases, four women sustained spinal injury during the 1st trimester of pregnancy, of which one had a spontaneous abortion, one delivered a baby with arthrogryposis multiplex congenital disorder, and the third one delivered a premature baby who died shortly after the delivery. Fifteen women sustained injury during their 2nd trimester, of which 14 delivered normal babies, while six sustained spinal injury during the 3rd trimester. Of these women, five delivered normal babies at term. Outcomes of pregnancy appear significantly affected if a spinal injury occurs during the 1st trimester of pregnancy; however, injuries sustained during the 2nd and 3rd trimesters can have good obstetric outcomes.
PubMed: 33940772
DOI: 10.31616/asj.2020.0192