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Frontiers in Medicine 2022Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth...
Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.
PubMed: 35865169
DOI: 10.3389/fmed.2022.910424 -
North American Spine Society Journal Sep 2022A misbalance in forces is proposed for causing adolescent idiopathic scoliosis (AIS). AIS is therefore correlated to adjacent musculoskeletal pathologies. Its... (Review)
Review
BACKGROUND
A misbalance in forces is proposed for causing adolescent idiopathic scoliosis (AIS). AIS is therefore correlated to adjacent musculoskeletal pathologies. Its concomitance with idiopathic pectus deformities (PD) is underexposed. This systematic review analyzes the clinical significance and predictive factors of PD-associated AIS.
METHODS
A search was performed in PubMed, UpToDate, Embase, and Cochrane. A study was included if it: assessed the association between PD and scoliosis (category I), reported a prevalence of scoliosis in PD patients (category II), or addressed other topics about PD-associated AIS (category III). Studies in category I discussing predictive factors were appraised using the Quality in Prognosis Studies tool. Because of heterogeneity among the studies, predictive factors were analyzed according to a best evidence synthesis. A mean prevalence of scoliosis in PD patients was calculated using category I and II. Category III was narratively reviewed.
RESULTS
Forty-eight studies were included (I:19, II:21, III:8). Category I comprised 512 patients with PD-concomitant scoliosis. Thirteen studies reported predictive factors, of which 15 concerned the prevalence of scoliosis in PD patients and 12 Cobb Angle (CA) change after PD correction. Compared with AIS, PD seems to develop earlier in adolescence, and PD with concomitant AIS was more frequently reported in older patients. Evidence remained conflicting regarding the association between the severity of PD and that of scoliosis. As opposed to at a younger age, late PD correction is not associated with a postoperative increase of CA. Limited evidence showed that patients with a high CA undergoing PD correction do not experience an increase in CA, though, strong evidence indicated that it would not lead to a decrease in CA. The mean probable prevalence of AIS in PD patients was 13.1%.
CONCLUSION
Current literature confirms the association between PD and AIS in patients with an indication for PD correction. III.
PubMed: 35814492
DOI: 10.1016/j.xnsj.2022.100140 -
Clinical Genetics Oct 2022Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities.... (Review)
Review
Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities. A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.
Topics: Female; Fetus; Genetic Counseling; Humans; Infant; Infant, Newborn; Karyotyping; Musculoskeletal Abnormalities; Pregnancy; Retrospective Studies; Spine; Ultrasonography, Prenatal
PubMed: 35802600
DOI: 10.1111/cge.14188 -
Indian Journal of Orthopaedics Jun 2022Cerebral Palsy is the leading cause of childhood physical disability globally. The motor disorders of CP are often associated with musculoskeletal anomalies, of which... (Review)
Review
BACKGROUND
Cerebral Palsy is the leading cause of childhood physical disability globally. The motor disorders of CP are often associated with musculoskeletal anomalies, of which hip displacement is the second most common abnormality after abnormalities of foot and ankle. Various radiological parameters have been described in the literature which detects and quantifies hip dysplasia, with MP being the current gold standard. This study aims to review these radiological indicators of hip dysplasia in children with cerebral palsy from the published literature.
METHODS
A literature search using PubMed, Embase, and Google Scholar was done on 15th June 2021 focusing on surveillance of hip dysplasia in cerebral palsy. The studies to be included were to have used anyone or more radiological parameter for detection of hip dysplasia with the use of any of the radiological methods.
RESULTS
The initial search yielded 1184 results. After the screening of the abstracts and full texts, a final of 30 studies was included for this systematic review. The majority of the studies were graded as Level 3 evidence (16/30), followed by Level 2 studies (14/30). X-ray was the most common modality of detection of dysplasia followed by CT scan, ultrasonography, and arthrogram. The reproducibility of the various parameters shows good to excellent intraclass coefficients.
CONCLUSIONS
Parameters other than MP can be used to screen hips in CP. This would be useful in patients in whom either the lateral acetabular edge is not discernible on a plain anteroposterior radiograph or there are issues in the positioning of the patient. Additional views and structures can be visualized which can lead to improved screening and planning. Further investigations are required to appreciate the full potential of these parameters and how they can be better utilized.
PubMed: 35669024
DOI: 10.1007/s43465-022-00610-x -
International Journal of Cardiology Sep 2022Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor β signalling pathway. Due to the recent... (Review)
Review
INTRODUCTION
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor β signalling pathway. Due to the recent discovery of the underlying genetic mutations leading to LDS, the spectrum of characteristics and complications is not fully understood.
METHODS
Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and google scholar) and included variations of "Loeys-Dietz Syndrome" as search terms, using all available data until February 2021. All study types were included. Three reviewers screened 1394 abstracts, of which 418 underwent full-text review and 392 were included in the final analysis.
RESULTS
We identified 3896 reported cases of LDS with the most commonly reported features and complications being: aortic aneurysms and dissections, arterial tortuosity, high arched palate, abnormal uvula and hypertelorism. LDS Types 1 and 2 share many clinical features, LDS Type 2 appears to have a more aggressive aortic disease. LDS Type 3 demonstrated an increased prevalence of mitral valve prolapse and arthritis. LDS Type 4 and 5 demonstrated a lower prevalence of musculoskeletal and cardiovascular involvement. Amongst 222 women who underwent 522 pregnancies, 4% experienced an aortic dissection and the peripartum mortality rate was 1%.
CONCLUSION
We observed that LDS is a multisystem connective tissue disorder that is associated with a high burden of complications, requiring a multidisciplinary approach. Ongoing attempts to better characterise these features will allow clinicians to appropriately screen and manage these complications.
Topics: Aortic Dissection; Arteries; Connective Tissue Diseases; Female; Humans; Loeys-Dietz Syndrome; Mutation; Pregnancy
PubMed: 35662564
DOI: 10.1016/j.ijcard.2022.05.065 -
Frontiers in Medicine 2022Musculoskeletal ultrasonography identifies subclinical joint and entheseal inflammation, and it might be of value in patients with inflammatory bowel diseases (IBD),...
BACKGROUND
Musculoskeletal ultrasonography identifies subclinical joint and entheseal inflammation, and it might be of value in patients with inflammatory bowel diseases (IBD), which are at higher risk of inflammatory arthropathy and disability. Our aim was to retrieve the evidence on the applications of ultrasound in patients with non-arthropathic IBD.
METHODS
Studies enrolling patients with IBD without arthritis, undergoing ultrasound of joints, tendons or entheses were eligible. The outcomes of interest encompassed the frequency of ultrasound-detected lesions, their accuracy in diagnosing arthritis, their prognostic role and sensitivity to change. All study types, excluding case reports, case series and narrative reviews, were included. Search strategies were applied in PubMed and Embase. Abstract and full-texts were evaluated by pairs of reviewers. The risk of bias was evaluated through the Newcastle-Ottawa scale or the Quality Assessment of Diagnostic Accuracy Studies (QUADAS) 2. The protocol was registered in PROSPERO (CRD42021264972).
RESULTS
Out of 2,304 records, eight studies were included, all reporting the frequency of lesions, while only three evaluated also the diagnostic accuracy. All studies had a cross-sectional design, with no evidence on prediction or follow-up. All studies evaluated the entheses, while only three the joints. The most common chronic lesions were entheseal thickening (up to 81.5%) and enthesophytes (67.9%), while entheseal erosions were present in 16%-17% of patients. Among inflammatory lesions, power Doppler was reported in 14%-67% of patients. There were no differences among Crohn's disease or ulcerative colitis and depending on disease activity, while there were contrasting results on different disease durations. When evaluating the diagnostic performance, the best specificity for a diagnosis if IBD was 0.88 (95%CI, 0.8-0.94) for joint abnormalities. Also, the best sensitivity was 0.88 (95%CI, 0.76-0.95) for entheseal lesions. No studies assessed of the combination of lesions. Due to the limited number of studies, meta-analyses were not performed.
CONCLUSIONS
Despite the possible value of ultrasound in IBD, there is limited evidence deriving from cross-sectional studies. Longitudinal studies are needed to clarify the role of this technique, while its current placement might be that of complementing clinical assessment, in particular in early intestinal disease.
PubMed: 35652081
DOI: 10.3389/fmed.2022.919521 -
Frontiers in Cardiovascular Medicine 2022Patients with a Fontan circulation are at risk for sequelae of Fontan physiology during follow-up. Fontan physiology affects all organ systems and an overview of...
INTRODUCTION
Patients with a Fontan circulation are at risk for sequelae of Fontan physiology during follow-up. Fontan physiology affects all organ systems and an overview of end-organ damage is needed.
METHODS
We performed a systematic review of abnormalities in multiple organ systems for patients with a longstanding Fontan circulation. We searched online databases for articles describing abnormalities in multiple organ systems. Cardio-pulmonary abnormalities, protein losing enteropathy, and Fontan associated liver disease have already extensively been described and were excluded from this systematic review.
RESULTS
Our search returned 5,704 unique articles. After screening, we found 111 articles relating to multiple organ systems. We found abnormalities in, among others, the nervous system, pituitary, kidneys, and musculoskeletal system. Pituitary edema-relating to the unique pituitary vasculature- may affect the thyroid axis. Renal dysfunction is common. Creatinine based renal function estimates may be inappropriate due to myopenia. Both lean muscle mass and bone mineral density are decreased. These abnormalities in multiple organ systems may be related to Fontan physiology, cyanosis, iatrogenic factors, or lifestyle.
CONCLUSIONS
Health care providers should be vigilant for hypothyroidism, visual or hearing deficits, and sleep disordered breathing in Fontan patients. We recommend including cystatin C for assessment of renal function. This review may aid health care providers and guide future research. https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021232461, PROSPERO, identifier: CRD42021232461.
PubMed: 35391839
DOI: 10.3389/fcvm.2022.826096 -
Journal of Scleroderma and Related... Feb 2022Primary heart involvement in systemic sclerosis may cause morpho-functional and electrical cardiac abnormalities and is a common cause of death. The absence of a clear...
INTRODUCTION
Primary heart involvement in systemic sclerosis may cause morpho-functional and electrical cardiac abnormalities and is a common cause of death. The absence of a clear definition of primary heart involvement in systemic sclerosis limits our understanding and ability to focus on clinical research. We aimed to create an expert consensus definition for primary heart involvement in systemic sclerosis.
METHODS
A systematic literature review of cardiac involvement and manifestations in systemic sclerosis was conducted to inform an international and multi-disciplinary task force. In addition, the nominal group technique was used to derive a definition that was then subject to voting. A total of 16 clinical cases were evaluated to test face validity, feasibility, reliability and criterion validity of the newly created definition.
RESULTS
In total, 171 publications met eligibility criteria. Using the nominal group technique, experts added their opinion, provided statements to consider and ranked them to create the consensus definition, which received 100% agreement on face validity. A median 60(5-300) seconds was taken for the feasibility on a single case. Inter-rater agreement was moderate (mKappa (95% CI) = 0.56 (0.46-1.00) for the first round and 0.55 (0.44-1.00) for the second round) and intra-rater agreement was good (mKappa (95% CI) = 0.77 (0.47-1.00)). Criterion validity showed a 78 (73-84)% correctness versus gold standard.
CONCLUSION
A preliminary primary heart involvement in systemic sclerosis consensus-based definition was created and partially validated, for use in future clinical research.
PubMed: 35386946
DOI: 10.1177/23971983211053246 -
Surgical and Radiologic Anatomy : SRA May 2022Many etiologies are known to lead to a tarsal tunnel syndrome (TTS). One rare cause is mass-occupying lesions, and particularly accessory or variant muscles (AVM). This... (Review)
Review
PURPOSE
Many etiologies are known to lead to a tarsal tunnel syndrome (TTS). One rare cause is mass-occupying lesions, and particularly accessory or variant muscles (AVM). This study aimed to systematically collect published clinical cases of TTS caused by AVM.
METHODS
An electronic literature search was conducted from inception to April 2021. The diagnosis of AVM should be reported in one of the following methods: ultrasonography, magnetic resonance imaging (MRI), or per-operatively. Data extraction included types and prevalence of accessory muscles, clinical presentation and diagnosis, and treatment modalities. Twenty-five studies were identified with a total 39 patients (47 ankles).
RESULTS
The prevalence of TTS was reported in only two studies (9%). Forty-nine AVM were identified with the accessory flexor digitorum longus being the most common (52%). The most common sign/symptoms were tenderness (78.7%), pain (82.9%), dysesthesia (57.4%), Tinel sign (44.6%), and a swelling (25.5%). Decompression and excision were the most commonly performed procedures. Four accessory/variant muscles in the ankle have the potential to induce a tarsal tunnel syndrome.
CONCLUSION
This review highlights the clinical and imagery specificities of TTS secondary to accessory or variant muscles. Mass-occupying etiology should be included in the list of differential diagnoses whenever a posterior tibial nerve compression is suspected.
Topics: Ankle; Foot; Humans; Muscle, Skeletal; Musculoskeletal Abnormalities; Tarsal Tunnel Syndrome; Tibial Nerve
PubMed: 35353216
DOI: 10.1007/s00276-022-02932-9 -
Congenital Anomalies May 2022The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal...
The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal malformations with diabetes mellitus in pregnancy in the literature evidence of the past 50 years. Literature on maternal diabetes and skeletal malformation was searched by two independent authors by following PRISMA guidelines. Strict inclusion and exclusion criteria were followed. After quality assessment, 21 original articles were included. The frequency of congenital malformation, skeletal malformation was extracted from the included studies. 11,574 congenital anomalies were detected diabetic mothers. 1182 skeletal anomalies were noted in 20,11 552 diabetic mothers. The skeletal malformation was noted in 20.4% of total anomalies. The most common skeletal malformation was the defect of the spine (39.9%). The limb deficiency was found in 32.8% of the infants of diabetic mothers. The skeletal malformations were higher, that is, 24.6% in pre-gestational diabetes. The incidence of skeletal malformation from the evidence was 1.5% (range: 0.03-4.27%) in maternal diabetes. Pre-gestation diabetes is more frequently associated with skeletal malformations, which is 1.9% (range: 0.07-5.89%). The association of congenital malformations and skeletal malformations in diabetic pregnancy is significant and hence, effective management of diabetes in childbearing age is essential to reduce this incidence and related long-term morbidity.
Topics: Congenital Abnormalities; Diabetes, Gestational; Female; Humans; Infant; Musculoskeletal Abnormalities; Pregnancy; Pregnancy in Diabetics
PubMed: 35319786
DOI: 10.1111/cga.12463