Abstract：
BACKGROUND:Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family. METHODS:Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recently identified an EDS family that indicate an autosomal dominant inheritance. The family was consented for genomic analysis of their de-identified data. After a negative screen for known mutations, we performed whole genome sequencing on the male proband, his affected father, and unaffected mother. We filtered the list of non-synonymous variants that are common between the affected individuals. RESULTS:The analysis of non-synonymous variants lead to identifying a novel mutation in the ADAMTSL2 (p. Gly421Ser) gene in the affected individuals. Sanger sequencing confirmed the mutation. CONCLUSION:Our work is significant not only because it sheds new light on the pathophysiology of EDS for the affected family and the field at large, but also because it demonstrates the utility of unbiased large-scale clinical recruitment in deciphering the genetic etiology of rare mendelian diseases. With unbiased large-scale clinical recruitment we strive to sequence as many rare mendelian diseases as possible, and this work in EDS serves as a successful proof of concept to that effect.
journal_name
BMC Musculoskelet Disordjournal_title
BMC musculoskeletal disordersauthors
Desai A,Connolly JJ,March M,Hou C,Chiavacci R,Kim C,Lyon G,Hadley D,Hakonarson Hdoi
10.1186/s12891-016-0936-8subject
Has Abstractpub_date
2016-02-16 00:00:00pages
80issn
1471-2474pii
10.1186/s12891-016-0936-8journal_volume
17pub_type
杂志文章abstract：BACKGROUND:This article describes the background and study design of the PROMO study (Prospective Research on Musculoskeletal disorders in Office workers). Few longitudinal studies have been performed to investigate the risk factors responsible for the incidence of hand, arm, shoulder and neck symptoms among office wor...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-7-55
更新日期：2006-07-05 00:00:00
abstract：BACKGROUND:Leg pain associated with low back pain (LBP) is recognized as a risk factor for a poor prognosis, and is included as a component in most LBP classification systems. The location of leg pain relative to the knee and the presence of a positive straight leg raise test have been suggested to have clinical implic...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-13-236
更新日期：2012-11-28 00:00:00
abstract：BACKGROUND:Manual therapy as spinal manipulation, spinal mobilization, stretching and massage are common treatment methods for neck and back pain. The objective was to compare the treatment effect on pain intensity, pain related disability and perceived recovery from a) naprapathic manual therapy (spinal manipulation, ...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章,随机对照试验
doi：10.1186/s12891-016-1030-y
更新日期：2016-04-23 00:00:00
abstract：BACKGROUND:Fracture healing slows with age. While 6-week-old rats regain normal bone biomechanics at 4 weeks after fracture, one-year-old rats require more than 26 weeks. The possible role of altered mRNA gene expression in this delayed union was studied. Closed mid-shaft femoral fractures were induced followed by euth...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-2-2
更新日期：2001-01-01 00:00:00
abstract：BACKGROUND:In recent years, structured reporting has been shown to be beneficial with regard to report completeness and clinical decision-making as compared to free-text reports (FTR). However, the impact of structured reporting on reporting efficiency has not been thoroughly evaluted yet. The aim of this study was to ...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-020-03200-w
更新日期：2020-04-16 00:00:00
abstract：BACKGROUND:Previous studies have described an increased risk of developing tibio-femoral osteoarthritis (TF OA), meniscal tears and bursitis among those with a trade as floor layers. The purpose of this study was to analyse symptomatic knee disorders among floor layers that were highly exposed to kneeling work tasks co...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-13-188
更新日期：2012-09-25 00:00:00
abstract：BACKGROUND:The m. quadriceps femoris is the strongest muscle in the human body and plays an important role in sports, activities of daily living and independence. Two older studies showed increased electromyographic (EMG) activity of the quadriceps when the dorsal extensors of the foot were pre-activated. The aim was t...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-015-0774-0
更新日期：2015-11-06 00:00:00
abstract：BACKGROUND:It is a great challenge for spine surgeons to correct severe rigid scoliosis. We developed a three- staged correction (one stage posterior release and screw placement, two stage skull-femoral traction and three stage posterior instrumentation) for adult severe scoliosis. The objective of this study is to inv...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2207-3
更新日期：2018-08-02 00:00:00
abstract：BACKGROUND:Injury prevalence data commonly indicate trends of higher rates of work-related musculoskeletal disorders in older workers over their younger counterparts, and for females more than males. The purpose of this study was to investigate age and sex-related differences in manifestations of shoulder muscle fatigu...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2191-7
更新日期：2018-08-07 00:00:00
abstract：BACKGROUND:The aim of this study was to evaluate the efficacy of the use of three-dimensional (3D) printing models for preoperative planning in cases of complex fracture. METHODS:In total, 48 patients with AO type C fractures of the distal radius were enrolled in the study between January 2014 and January 2015. They w...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章,随机对照试验
doi：10.1186/s12891-019-2448-9
更新日期：2019-02-08 00:00:00
abstract：BACKGROUND:The majority of individuals with spinal muscular atrophy (SMA) experience progressive skeletal deformities which may affect the quality of life and mobility. To date, no studies have evaluated the reliability of tests assessing body posture and joint mobility in SMA patients. The purpose of this study was to...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2389-8
更新日期：2019-02-07 00:00:00
abstract：BACKGROUND:Ethiopian school children often carry school supplies in heavy school bags and encounter limited school facilities. This stresses their vulnerable musculoskeletal system and may result in experiencing musculoskeletal pain. High prevalence of musculoskeletal pain has been documented, but data on musculoskelet...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2192-6
更新日期：2018-07-31 00:00:00
abstract：BACKGROUND:Patients with rheumatoid arthritis (RA) are known to be at increased risk of infection, particularly if they are taking drugs with immunomodulatory effects. There is a need for more information on the risk of influenza in patients with RA. METHODS:A retrospective cohort study was carried out using data gath...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-13-158
更新日期：2012-08-27 00:00:00
abstract：BACKGROUND:This study aimed to evaluate the effects of vitamin D deficiency on the functional outcomes following a high tibial osteotomy (HTO). METHODS:Clinical data of 209 patients (327 knees) who underwent HTO done by a single surgeon were retrospectively registered for the study. Ninety-four patients (94 knees) who...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-020-03295-1
更新日期：2020-04-17 00:00:00
abstract：BACKGROUND:Although the numbers of total knee arthroplasty (TKA) are increasing, there is only a small number of studies investigating driving safety after TKA. The parameter 'Brake Response Time (BRT)' is one of the most important criteria for driving safety and was therefore chosen for investigation.The present study...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-11-267
更新日期：2010-11-18 00:00:00
abstract：BACKGROUND:Clinical guidelines are considered important instruments to improve quality in health care. In physiotherapy, insight in adherence to guidelines is limited. Knowledge of adherence is important to identify barriers and to enhance implementation. Purpose of this study is to investigate the ability to adherence...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-8-45
更新日期：2007-05-22 00:00:00
abstract：BACKGROUND:Inpatient satisfaction with care is a standard indicator of the quality of care delivered during hospitalization. Total hip and knee replacement (THR/TKR) for osteoarthritis (OA) are among the most successful orthopaedic interventions having a positive impact on health-related quality of life (HRQoL). The ai...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章,多中心研究
doi：10.1186/1471-2474-10-150
更新日期：2009-12-03 00:00:00
abstract：BACKGROUND:Our preliminary RNA-Seq data revealed altered expression of small nucleolar RNA host gene 9 (SNHG9) in osteoarthritis (OA) and its reverse correlation with miR-34a, which can regulate chondrocyte apoptosis in rat OA model. This study was therefore carried out to investigate the potential interaction between ...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-020-03497-7
更新日期：2020-08-01 00:00:00
abstract：BACKGROUND:Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without skeletal dysplasia. METHODS:Functioning was assessed by questionna...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-020-03835-9
更新日期：2020-12-04 00:00:00
abstract：BACKGROUND:Preclinical osteoarthritis models where damage occurs spontaneously may better reflect the initiation and development of human osteoarthritis. The aim was to assess the commercial pig as a model of spontaneous osteoarthritis development by examining pain-associated behaviour, joint cartilage integrity, as we...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-019-2452-0
更新日期：2019-02-11 00:00:00
abstract：BACKGROUND:To address both the growing burden of joint disease and the gaps in medical access in developing nations, medical relief organizations have begun to launch programs to perform total joint replacement (TJR) on resident populations in developing countries. One outcome of TJR of particular interest is physical ...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-15-207
更新日期：2014-06-16 00:00:00
abstract：BACKGROUND:Meniscal allograft transplantation (MAT) may improve symptoms and function, and may limit premature knee degeneration in patients with symptomatic meniscal loss. The aim of this retrospective study was to examine patient outcomes after MAT and to explore the different potential definitions of 'success' and '...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-020-3165-0
更新日期：2020-03-12 00:00:00
abstract：BACKGROUND:Back, neck and shoulder pain are the most common causes of occupational disability. They reduce health-related quality of life and have a significant economic impact. Many different forms of physical treatment are routinely used. The objective of this study was to estimate the cost of physical treatments whi...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-12-287
更新日期：2011-12-21 00:00:00
abstract：BACKGROUND:Radial head fractures are commonly interpreted as isolated injuries, and it is assumed that the energy transferred during trauma has its influence on the risk on associated ipsilateral upper limb injuries. However, relationships between Mason classification, mechanism of injury, and associated injuries have ...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-015-0603-5
更新日期：2015-06-05 00:00:00
abstract：BACKGROUND:To investigate the clinical efficacy of minimally invasive direct lateral approach debridement, interbody bone grafting, and interbody fusion in the treatment of the thoracic and lumbar spinal tuberculosis. METHODS:From January 2013 to January 2016, 35 cases with thoracic and lumbar spinal tuberculosis rece...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2187-3
更新日期：2018-08-07 00:00:00
abstract：BACKGROUND:Polymethyl-methacrylate (PMMA) beads releasing antibiotics are used extensively to treat osteomyelitis, but require surgical removal afterwards because they do not degrade. METHODS:As an alternative option, this report compares the in vitro gentamicin release profile from clinically used, biodegradable carr...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-7-18
更新日期：2006-02-26 00:00:00
abstract：BACKGROUND:Dislocation following total hip arthroplasty has to date not been resolved satisfactorily. Previous work has shown that using a less-invasive adaption of Bauer's lateral transgluteal approach with capsular repair significantly reduces dislocation rates in primary total hip arthroplasty. The aim of this retro...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-018-2242-0
更新日期：2018-08-31 00:00:00
abstract：BACKGROUND:To systematically review and assess the efficacy and safety of hydroxychloroquine (HCQ) for treating primary Sjogren's syndrome (pSS). METHODS:Five electronic databases (Pubmed, EMBASE, Web of science, Ovid, Cochrane Library) were searched for randomized controlled trials and retrospective or prospective st...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1186/s12891-017-1543-z
更新日期：2017-05-12 00:00:00
abstract：BACKGROUND:Although ankle fracture surgery can affect glycemic control by either trauma-induced stress or a postoperative decrease in physical activity, there is little evidence on this issue. This study aimed to evaluate the influence of ankle fracture surgery on glycemic control and to assess the risk factors for poo...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/s12891-016-0987-x
更新日期：2016-03-23 00:00:00
abstract：BACKGROUND:Cyclosprin A (CsA) has been widely used clinically to treat the patients who have undergone organ transplantation or acquired autoimmune disease. The purpose of this study is to determine the effects of three different doses of CsA (1.5, 7.5, 15 mg/kg body weight) on the skeletal biomechanical proprieties at...
journal_title：BMC musculoskeletal disorders
pub_type： 杂志文章
doi：10.1186/1471-2474-12-240
更新日期：2011-10-24 00:00:00
