Abstract:
:The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome.This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases.The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction.Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Li Z,Shen J,Liang J,Sheng Ldoi
10.1097/MD.0000000000000705subject
Has Abstractpub_date
2015-05-01 00:00:00pages
e705issue
17eissn
0025-7974issn
1536-5964pii
00005792-201505010-00009journal_volume
94pub_type
杂志文章,评审相关文献
MEDICINE文献大全abstract:RATIONALE:Retrograde drilling is a well accepted procedure for osteochondral lesion of the talus and subchondral cyst with intact overlying cartilage. It has good results in most reports. Compared to anterograde drilling, retrograde drilling can protect the integrity of the articular cartilage. The purpose of this stud...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000005418
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVES:To investigate the association between cognitive behavior therapy (CBT) and dizziness. METHODS:The databases including PubMed, Embase, Cochrane Library and Web of science will be searched for randomized controlled trials. Weighted mean difference and 95% confidence interval will be utilized to calculate the...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000022945
更新日期:2020-12-24 00:00:00
abstract:RATIONALE:Currently, the 5-year survival rate remains poor for patients with metastatic colorectal cancer (mCRC), and the purpose of therapy is to prolong survival while maintaining the quality of life. Trifluridine/tipiracil, an oral drug combining trifluorothymidine and a thymidine phosphorylase inhibitor, is indicat...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000022780
更新日期:2020-10-23 00:00:00
abstract:RATIONALE:Total hip arthroplasty (THA) concomitant with subtrochanteric femoral shortening osteotomy for Crowe type IV dysplastic hip has been reported. However, the combination of subtrochanteric femoral osteotomy and revision THA has only been mentioned in one case report. PATIENT CONCERNS:A 67-year-old female had a...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000012934
更新日期:2018-10-01 00:00:00
abstract::Many studies about serum IgG4 for the diagnosis of IgG4-related disease (IgG4-RD) have been reported. However, these studies had relatively small sample sizes and the diagnostic accuracy values varied much between them.The aim of this study was to perform a meta-analysis to evaluate the diagnostic value of serum IgG4 ...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000003785
更新日期:2016-05-01 00:00:00
abstract:INTRODUCTION:The impact of dexamethasone on pain management for knee arthroscopy remains controversial. We conduct a systematic review and meta-analysis to explore the influence of dexamethasone for knee arthroscopy. METHODS:We search PubMed, EMbase, Web of science, EBSCO, and Cochrane library databases through Octobe...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000019417
更新日期:2020-04-01 00:00:00
abstract::The aim of the study was to evaluate the efficacy custom 3D-printed osteosynthesis plates in the treatment of intercondylar humeral fractures.Thirteen patients with distal intercondylar humeral fractures were randomized to undergo surgery using either conventional plates (n = 7) or 3D-printed plates (n = 6) at our ins...
journal_title:Medicine
pub_type: 杂志文章,随机对照试验
doi:10.1097/MD.0000000000002461
更新日期:2016-01-01 00:00:00
abstract::Whether statin use has any impact on survival of esophageal cancer patients remains controversial. Therefore, we conducted a meta-analysis focusing on current topic for the first time.We systematically searched the following databases for relevant studies comparing survival between statin users and non-users among eso...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000016480
更新日期:2019-07-01 00:00:00
abstract:INTRODUCTION:The odontogenic keratocyst (OKC), previously known as keratocystic odontogenic tumor has been the most disputable pathologies of the maxillofacial region. Patients with OKC are often asymptomatic but may present with pain, swelling, or discharge. Despite the aggressive nature, previous literature as early ...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000017987
更新日期:2019-12-01 00:00:00
abstract::Rs1495741 has been identified to infer N-acetyltransferase 2 (NAT2) acetylator phenotype, and to decrease the risk of bladder cancer. However, a number of studies conducted in various regions showed controversial results. To quantify the association between rs1495741 and the risk of bladder cancer and to estimate the ...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000004417
更新日期:2016-08-01 00:00:00
abstract::To assess the mental health of nurses and to find the post responsibility and psychological status of clinical nurses.A total of 447 nursing staff at different levels in a teaching hospital was assessed by nursing post responsibility scale and mental symptom checklist (SCL-90) then compared with each other. The study ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000019049
更新日期:2020-02-01 00:00:00
abstract::Donor organ shortage continues to limit the availability of liver transplantation, a successful and established therapy of end-stage liver diseases. Strategies to mitigate graft shortage include the utilization of marginal livers and recently ex-situ normothermic machine perfusion devices. A 59-year-old woman with cir...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000003119
更新日期:2016-04-01 00:00:00
abstract::Hypotonia, particularly of the masticatory and oropharyngeal muscles, is 1 of the main characteristics of Down Syndrome (DS), resulting in impaired speech, chewing and swallowing. Moreover, the complete or partial obstruction of the airways during sleep may occur due to hypotonia of the tongue, leading to snoring and ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000019904
更新日期:2020-04-01 00:00:00
abstract:RATIONALE:Immunosuppressive agents such as tacrolimus (TAC) and cyclosporin might cause glycemic disorders by suppressing insulin production. However, only a few cases of diabetic ketoacidosis (DKA) with longitudinal evaluation of endogenous insulin secretion related to TAC administration have been reported. PATIENT C...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000016992
更新日期:2019-09-01 00:00:00
abstract::The aim of this study was to identify the factors related to occurrence of epiphora or requirement of dacryocystorhinostomy (DCR) in patients with midfacial trauma.We performed a retrospective analysis of the medical records of 1038 patients with midfacial trauma from January 2005 to December 2015. Fifty-one patients ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000018120
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:Reduction of post-operative pain, nausea, and vomiting in patients undergoing total hip arthroplasty (THA) may facilitate earlier discharge from hospital and reduce healthcare costs. The recommended dose regimen of dexamethasone in THA has not been determined. The purpose of this study was performed to compa...
journal_title:Medicine
pub_type: 杂志文章,随机对照试验
doi:10.1097/MD.0000000000020147
更新日期:2020-05-01 00:00:00
abstract::We followed prospectively 834 consecutive patients (70% inpatients), evaluated for suspected pulmonary embolism, for a median time of 2.1 years (range, 0-4.8 yr), and compared the survival rates in patients with proven pulmonary embolism (n=320) with those without (n=514). In multivariate analysis, we modeled the prob...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/01.md.0000236952.87590.c8
更新日期:2006-09-01 00:00:00
abstract::Bleedings represent most relevant complications being correlated with significant rates of adverse clinical outcomes in patients undergoing percutaneous coronary intervention (PCI). To reduce bleeding and improve prognosis various types of vascular closure devices (VCD) are frequently applied. This study aims to compa...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000015501
更新日期:2019-05-01 00:00:00
abstract:RATIONALE:Repair of soft tissue defects on the dorsum of the hand with accompanying tendon defects is a challenging problem in clinical practice. PATIENT CONCERNS:Here, we describe the case of a 3-year-old boy with a 1-week old soft tissue injury with infection due to a soft tissue defect on the dorsum of his right ha...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000021837
更新日期:2020-08-21 00:00:00
abstract:BACKGROUND:Acupuncture has been widely, used in Asian countries since the Yuan Dynasty in China. Moreover, acupuncture has been reported to exhibit anti-allergy effects in many clinical trials. This systematic review will assess the effectiveness, and safety of acupuncture for anxiety treatment. METHODS:Eleven databas...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000010266
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:As the prevalence of total hip arthroplasty (THA) is increasing, it is usually associated with considerable blood loss. Tranexamic acid (TXA) has been reported to reduce perioperative blood loss in hip joint arthroplasty. But the best route of TXA administration continues to be controversial. So, we conducte...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000005573
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:To compare superb microvascular imaging with power Doppler imaging for evaluating joint lesion scores in rheumatoid arthritis based on high quality clinical cohort or case control studies. METHODS:We searched Medline (via PubMed), Web of Science, Cochrane Library, Embase, and Chinese Biomedical Literature D...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000022185
更新日期:2020-09-11 00:00:00
abstract:BACKGROUND:The single nucleotide polymorphism (SNP) rs2476601 of the protein tyrosine phosphatase, nonreceptor type 22 (PTPN22) gene has been presented to implicate in the pathogenesis of alopecia areata (AA) in a few association investigations with limited sample size and inconsistent conclusions. METHODS:The aim of ...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000015448
更新日期:2019-05-01 00:00:00
abstract:RATIONALE:IgG4-related disease (IgG4-RD) is an emerging immune-mediated disease characterized by multi-organ involvement and variable clinical behavior. PATIENT CONCERNS:We describe the case of a 50-year-old woman affected by a rare variant of IgG4-RD, characterized by eyelid xanthelasmas, adult-onset asthma and saliv...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000011143
更新日期:2018-06-01 00:00:00
abstract::Myositis-specific autoantibodies, such as anti-melanoma differentiation associated gene 5 (MDA5) and anti-anti-amino acyl-tRNA synthetases (ARS) antibodies, are associated with interstitial lung diseases (ILD), which determine the prognosis of polymyositis/dermatomyositis (PM/DM) patients. However, there is a paucity ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000015578
更新日期:2019-05-01 00:00:00
abstract::This study, an important groundwork for clinical tongue diagnosis and future traditional Chinese medicine (TCM) research, tested the hypothesis that some tongue features vary significantly between different gender and age groups by utilizing an automatic tongue diagnosis system (ATDS).A cross-sectional study of 1487 p...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000018350
更新日期:2019-12-01 00:00:00
abstract::Information on respiratory viruses in subtropical region is limited.Incidence, mortality, and seasonality of influenza (Flu) A/B, respiratory syncytial virus (RSV), adenovirus (ADV), and parainfluenza viruses (PIV) 1/2/3 in hospitalized patients were assessed over a 15-year period (1998-2012) in Hong Kong.Male predomi...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000002024
更新日期:2015-11-01 00:00:00
abstract::There is currently a lack of reliable, reproducible, and easily applied methods for assessing changes in liver histology in patients in the gray zone phase of chronic hepatitis B (CHB). Therefore, we aimed to develop a novel predictive scoring system to detect significant liver histological changes in these patients.A...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000006465
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND:Compared with open lumbar microdiscectomy, percutaneous endoscopic lumbar discectomy (PELD) has the advantages of remarkable preservation of paravertebral structures, less bleeding, shorter operation time and fewer complications, it is a common method for the treatment of lumbar disc herniation (LDH). Local ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000022693
更新日期:2020-10-09 00:00:00
abstract::Serums were collected from people to assess whether polio immunity level was high enough to satisfy the polio vaccine immunization switch in Chongqing.People in 7 age groups (<1 year, 1-2 years, 3-4 years, 5-6 years, 7-14 years, 15-19 years, ≧20 years) were randomly selected in 3 areas by different geographical featur...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000021298
更新日期:2020-07-31 00:00:00