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Hip Int 2019 Jan 14;29(1):21-25. Epub 2018 Oct 14.

Department of Orthopaedic Surgery, Kitasato University, School of Medicine, Sagamihara City, Kanagawa, Japan.

Introduction:: Patients presenting with hip diseases often have coexisting spine disorders, a condition that is termed "hip-spine syndrome." However, few reports have evaluated total spinal alignments in patients with coxalgia. In this study, we retrospectively examined the relationship between several clinical and x-ray parameters of the hip joints and spinal alignment in patients with coxalgia. Read More

J Pediatr Orthop 2018 Sep 20. Epub 2018 Sep 20.

Center for Thoracic Insufficiency Syndrome, Children's Hospital of Philadelphia, Philadelphia, PA.

Background: Over the past 100 years, many procedures have been developed for correcting restrictive thoracic deformities which cause thoracic insufficiency syndrome. However, none of them have been assessed by a robust metric incorporating thoracic dynamics. In this paper, we investigate the relationship between radiographic spinal curve and lung volumes derived from thoracic dynamic magnetic resonance imaging (dMRI). Read More

Spine (Phila Pa 1976) 2018 Sep 17. Epub 2018 Sep 17.

Department of Orthopedic Surgery, Keio University School of Medicine.

Study Design: Multicenter retrospective case series of patients treated surgically for adult spinal deformity (ASD).

Objective: To compare clinical outcomes between propensity-score-matched ASD patients with or without drop body syndrome (DBS).

Summary Of Background Data: DBS is an extreme primary sagittal-plane deformity often seen in Asian countries. Read More

Am J Med Genet A 2018 Nov 8;176(11):2331-2341. Epub 2018 Sep 8.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

Musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13. Read More

BMJ Case Rep 2018 Aug 27;2018. Epub 2018 Aug 27.

Director MedStar Baltimore Region Cancer Network, MedStar Franklin Square Hospital, Baltimore, Maryland, USA.

Pain Physician 2018 07;21(4):383-406

Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Jefferson Comprehensive Epilepsy Center, Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

Background: Degenerative lumbar spine disease can lead to lumbar spine instability. Lumbar spine instability is defined as an abnormal response to applied loads characterized kinematically by abnormal movement in the motion segment beyond normal constraints. Patients with lumbar spinal stenosis (LSS) typically present with low back pain (LBP), cramping, cauda equine syndrome, and signs of nerve root compression associated by weakness, numbness and tingling in their legs that are worsened with standing and walking. Read More

Clin Spine Surg 2018 Jul;31(6):E322-E328

Laboratory of Biomechanics and Medical Imaging, Faculty of Medicine.

Study Design: This was a cross-sectional study.

Objective: The aim of this study was to describe the spinopelvic alignment of subjects with Down syndrome (DS).

Summary Of Background Data: Subjects with DS are known to suffer from a large prevalence of scoliosis. Read More

J Bone Miner Res 2018 Sep 22;33(9):1641-1648. Epub 2018 May 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. Clinical data from the National Institutes of Health (NIH) cohort study was reviewed. Read More

EFORT Open Rev 2018 Mar 29;3(3):98-105. Epub 2018 Mar 29.

MSK Lab, Imperial College London, UK.

Conventional techniques for hip and knee arthroplasty have led to good long-term clinical outcomes, but complications remain despite better surgical precision and improvements in implant design and quality.Technological improvements and a better understanding of joint kinematics have facilitated the progression to 'personalized' implant positioning (kinematic alignment) for total hip (THA) and knee (TKA) arthroplasty, the true value of which remains to be determined.By achieving a true knee resurfacing, the kinematic alignment (KA) technique for TKA aims at aligning the components with the physiological kinematic axes of the knee and restoring the constitutional tibio-femoral joint line frontal and axial orientation and soft-tissue laxity. Read More

EFORT Open Rev 2018 Feb 21;3(2):39-44. Epub 2018 Feb 21.

London Hip Unit, UK.

Patients with hip osteoarthritis often have an abnormal spine-hip relation (SHR), meaning the presence of a clinically deleterious spine-hip and/or hip-spine syndrome.Definition of the individual SHR is ideally done using the EOS® imaging system or, if not available, with conventional lumbopelvic lateral radiographs.By pre-operatively screening patients with abnormal SHR, it is possible to refine total hip replacement (THR) surgical planning, which may improve outcomes. Read More

Braz J Phys Ther 2018 Jul - Aug;22(4):310-317. Epub 2018 Mar 6.

The University of Newcastle, School of Health Sciences, Discipline of Physiotherapy, Callaghan, NSW, Australia.

Background: Radiographs are used to monitor thoracic kyphosis in individuals with certain pathologies (e.g. osteoporosis), exposing patients to potentially harmful radiation. Read More

Clin Neuropharmacol 2018 Mar/Apr;41(2):60-63

Objectives: Pisa syndrome is characterized by lateral trunk flexion. It is an uncommon adverse drug reaction in patients on antipsychotic medication. Although Pisa syndrome has been reported in patients on antipsychotic treatment, previous studies have not discussed the prognosis of patients with Pisa syndrome. Read More

World Neurosurg 2018 Apr 6;112:250-253. Epub 2018 Feb 6.

Department of Neurosurgery, Duke University Hospitals, Durham, North Carolina, USA.

Background: Prolactinomas are typically treated nonsurgically with a dopamine agonist. Once the tumor shrinks, adjacent eloquent structures, such as the optic apparatus, can become skeletonized and herniate into the dilated parasellar space.

Case Description: A 48-year-old man with a prolactin-secreting macroadenoma treated with cabergoline presented with progressive bitemporal hemianopsia. Read More

Foot Ankle Surg 2018 Feb 25;24(1):49-53. Epub 2016 Nov 25.

Derriford Hospital, Derriford Road, Crownhill, Plymouth, Devon PL6 8DH, United Kingdom.

Background: Dislocated metatarsophalangeal joints from clawed or hammer toes can be a disabling consequence of several conditions. The Cobb-Stainsby forefoot arthroplasty combines partial phalangectomy (Stainsby) with extensor tendon transfer to the metatarsal head (Cobb). We present a retrospective, three surgeon case series of 215 toes in 126 patients. Read More

Ann Thorac Surg 2018 Jun 2;105(6):1835-1841. Epub 2018 Feb 2.

Division of Orthopedic Surgery, Texas Children's Hospital, Houston, Texas; Joseph Barnhart Department of Orthopedic Surgery, Baylor College of Medicine, Houston, Texas.

Background: The purpose of this study was to determine the incidence and risk factors for the development and rate of progression of scoliosis and moderate/severe scoliosis in patients undergoing cardiothoracic operations (CTOs).

Methods: Included were patients aged younger than 12 years who underwent CTOs in 1995 to 2006 with a preoperative chest roentgenogram (CRG) and a CRG at least 8 years after CTOs. Scoliosis and moderate/severe scoliosis were defined as a Cobb angle of 10 degrees or more and an angle of 25 degrees or more or the need for surgical intervention, respectively. Read More

World Neurosurg 2018 Apr 31;112:e431-e441. Epub 2018 Jan 31.

Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, Neurosurgical Department, Kurgan, Russia.

Objective: To evaluate the optimal timing and type of surgical treatment of myelomeningocele (MMC)-related spinal deformities and long-term follow-up of surgical treatment.

Methods: We reviewed and presented clinical pictures, treatment strategies and results of 20 patients with MMC-related spinal deformities treated at our center between 2010 and 2017.

Results: The average patient age was 6. Read More

Nature 2017 10 11;550(7676):398-401. Epub 2017 Oct 11.

The Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, King's Buildings, Max Born Crescent, Edinburgh EH9 3BF, UK.

Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors. Read More

Int J Paleopathol 2017 09 21;18:98-107. Epub 2017 Jun 21.

Department of Anthropology and Middle Eastern Cultures/Cobb Institute of Archaeology, Mississippi State University, P.O. Box AR, MS, 39762, USA. Electronic address:

Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis. Read More

Hand (N Y) 2017 09 16;12(5):NP58-NP61. Epub 2016 Sep 16.

1 Orthopaedic Specialists, P.C., Davenport, IA, USA.

Background: Chronic exertional compartment syndrome (CECS) of the forearm is traditionally treated with open compartment release requiring large incisions that can result in less than optimal esthetic results. The purpose of this study is to describe a case report of 2 professional motocross patients with forearm CECS treated endoscopically using a minimally invasive technique.

Methods: Two professional motocross racers presented with a history of chronic proximal volar forearm pain when motocross riding. Read More

Surg Neurol Int 2017 18;8:147. Epub 2017 Jul 18.

Department of Neurosurgery, Hospital Córdoba, Córdoba, Argentina.

Background: Cutaneomeningospinal angiomatosis or Cobb syndrome is a rare, not well understood phacomatosis that features metameric cutaneous and spinal arteriovenous malformations (AVMs). The first case was described in Boston in 1915, and since then, few more cases have been reported in the English literature. No case was found to be from Argentina. Read More

Childs Nerv Syst 2017 Nov 10;33(11):1899-1903. Epub 2017 Jul 10.

Division of Pediatric Neurosurgery, Department of Neurological Surgery, Saint Louis University School of Medicine, Saint Louis, MO, USA.

Background: The management of concomitant scoliosis and tethered cord syndrome in the non-spina bifida pediatric population is challenging. In the present study, we evaluate the efficacy of different treatment modalities and propose a treatment plan for the management of affected patients.

Methods: A systematic literature review was conducted by querying the MEDLINE, PubMed, Cochrane, EMBASE, Scopus, and Web of Science databases for papers published between January 1996 and June 2016 and reporting on concomitant scoliosis and tethered cord. Read More

Neuroscience 2017 09 4;358:261-268. Epub 2017 Jul 4.

Institute of Neuroscience and Psychology, University of Glasgow, United Kingdom. Electronic address:

Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills. In the majority of cases, typical RTT is caused by de novo mutations in the X-linked gene, MECP2. Alterations in the structure and function of neurons within the central nervous system of RTT patients and Mecp2-null mouse models are well established. Read More

Eur Spine J 2018 Aug 26;27(8):1992-1999. Epub 2017 Jun 26.

Department of Orthopaedic Surgery, Hospital for Joint Diseases, New York University Langone Medical Center, 301 East 17th Street, New York, NY, 10003, USA.

Objective: The aim of this study is to present our technique for a large focal correction of a partially flexible dropped head deformity through combined anterior and posterior osteotomies, as well as anterior soft tissue releases.

Methods: One patient with dropped head deformity underwent an anterior and posterior osteotomy with anterior soft tissue release.

Results: The patient recovered well, with postoperative radiographs demonstrating significant improvement in coronal and sagittal alignment. Read More

Diabetologia 2017 09 8;60(9):1740-1750. Epub 2017 Jun 8.

Institute for Molecular Medicine Finland (FIMM), Nordic EMBL Partnership for Molecular Medicine, University of Helsinki, Helsinki, Finland.

Aims/hypothesis: The aims of this study were to evaluate systematically the predictive power of comprehensive metabolomics profiles in predicting the future risk of type 2 diabetes, and to identify a panel of the most predictive metabolic markers.

Methods: We applied an unbiased systems medicine approach to mine metabolite combinations that provide added value in predicting the future incidence of type 2 diabetes beyond known risk factors. We performed mass spectrometry-based targeted, as well as global untargeted, metabolomics, measuring a total of 568 metabolites, in a Finnish cohort of 543 non-diabetic individuals from the Botnia Prospective Study, which included 146 individuals who progressed to type 2 diabetes by the end of a 10 year follow-up period. Read More

J Neurosurg Sci 2017 May 31. Epub 2017 May 31.

IRCCS Istituto Ortopedico Galeazzi, Milan, Italy.

Background: The aim of this study was to determine the effects of magnetically controlled growing rods surgery (MCGRS) of the scoliosis on pulmonary function in children with neuromuscular scoliosis.

Methods: Seven patients, 85.7% female (mean ± SD age: 6. Read More

Mol Ther Methods Clin Dev 2017 Jun 22;5:180-190. Epub 2017 Apr 22.

Institute of Neuroscience and Psychology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.

Rett syndrome (RTT), caused by loss-of-function mutations in the gene, is a neurological disorder characterized by severe impairment of motor and cognitive functions. The aim of this study was to investigate the impact of vector design, dosage, and delivery route on the efficacy and safety of gene augmentation therapy in mouse models of RTT. Our results show that AAV-mediated delivery of to null mice by systemic administration, and utilizing a minimal endogenous promoter, was associated with a narrow therapeutic window and resulted in liver toxicity at higher doses. Read More

Mol Ther Methods Clin Dev 2017 Jun 19;5:106-115. Epub 2017 Apr 19.

University of North Carolina (UNC) Gene Therapy Center, Chapel Hill, NC 27599, USA.

Intravenous administration of adeno-associated virus serotype 9 (AAV9)/ has been shown to extend the lifespan of mice, but this delivery route induces liver toxicity in wild-type (WT) mice. To reduce peripheral transgene expression, we explored the safety and efficacy of AAV9/ injected into the cisterna magna (ICM). AAV9/ (1 × 10 viral genomes [vg]; ICM) extended survival but aggravated hindlimb clasping and abnormal gait phenotypes. Read More

Clin Spine Surg 2017 05;30(4):E448-E453

*Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University †Spinal Deformity Center of Henan Province, Zhengzhou, China.

Study Design: This is a retrospective study.

Objectives: The treatment of severe spinal deformities is still a difficult surgical challenge. It is generally significant to identify the related complications performed to a consecutive series of patients with severe spinal deformity and managed by 1-stage posterior spinal osteotomy. Read More

Acta Neurochir (Wien) 2017 06 22;159(6):1129-1135. Epub 2017 Apr 22.

Department of Orthopaedic Surgery, Biomedical Research Institute, Pusan National University School of Medicine, 179 Gudeok-ro, Seo-gu, Busan, 602-739, South Korea.

Background: Several different techniques exist to treat degenerative lumbar foraminal stenosis. Failure to adequately decompress the lumbar foramen may lead to failed back surgery syndrome. However, wide decompression often causes spinal instabilities or may require an additional fusion surgery. Read More

Anaesthesia 2017 Jul 13;72(7):879-888. Epub 2017 Apr 13.

Department of Anaesthesiology and Critical Care, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Optimal immunological homoeostasis determines the long-term recovery of patients in the postoperative period. The functional adaptability of monocytes plays a pivotal role in adjusting the host's response to an insult, immunostasis and long-term health, and may help to determine successful recovery. We undertook a longitudinal analysis of the functional adaptability of monocytes in 20 patients undergoing heart surgery with cardiopulmonary bypass, as a model of severe stress. Read More

J Athl Train 2017 May 7;52(5):411-421. Epub 2017 Apr 7.

University of Wisconsin-Milwaukee.

Context:   Patellofemoral pain (PFP) is typically exacerbated by repetitive activities that load the patellofemoral joint, such as running. Understanding the mediating effects of changes in pain in individuals with PFP might inform injury progression, rehabilitation, or both.

Objective:   To investigate the effects of changing pain on muscular strength and running biomechanics in those with PFP. Read More

Orthop Traumatol Surg Res 2017 06 1;103(4):549-557. Epub 2017 Apr 1.

The MSK Lab, Charing Cross Campus, laboratory Block, London W6 8RP Imperial College, London, United Kingdom.

Relationship between hip pathoanatomy and symptomatic FAI has been reported to be weak. This is explained by the reciprocal interaction between proximal femur and acetabular anatomies, but potentially also by the individual spine-hip relations (SHR). The key-answer for a complete understanding of the pathophysiology of FAI might lie in the comprehension of the SHRs, which have not yet been fully addressed. Read More

Orthop Traumatol Surg Res 2017 06 1;103(4):559-568. Epub 2017 Apr 1.

London hip unit, 30, Devonshire St, W1G 6PU London, UK.

Sagittal pelvic kinematics along with spino-pelvic angular parameters have recently been studied by numerous investigators for their effect on total hip replacement (THR) clinical outcomes, but many issue of spine-hip relations (SHR) are currently unexplored. Therefore, our review aims at clarifying the following questions: is there any evidence of a relationship between articular impingement/dislocation risk in primary THR and (1) certain sagittal pelvic kinematics patterns, (2) pelvic incidence, and (3) types of SHRs? A systematic review of the existing literature utilising PubMed and Google search engines was performed in January 2017. Only clinical or computational studies published in peer-reviewed journals over the last five years in either English or French were reviewed. Read More

Pediatr Neurol 2017 05 7;70:20-25. Epub 2017 Feb 7.

University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama; University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama. Electronic address:

Background: Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and specific genotypes, addressing the hypothesis that abnormal muscle tone, poor oral feeding, puberty, and delays or absence of sitting balance and ambulation may be responsible for greater risk in RTT.

Methods: The multicenter RTT Natural History Study gathered longitudinal data for classic RTT, including mutation type, scoliosis, muscle tone, sitting, ambulation, hand function, and feeding. Read More

J Orthop Sci 2017 Jul 18;22(4):658-664. Epub 2017 Mar 18.

Department of Orthopaedic Surgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.

Background: Fukuyama congenital muscular dystrophy (FCMD) is one of the most common congenital progressive muscular dystrophies in Japan. Some patients develop a severe spinal deformity that leads to an unstable sitting position or pain. Since 2008, we have treated FCMD using posterior spinal fusion. Read More

Brain Dev 2017 Aug 16;39(7):613-616. Epub 2017 Mar 16.

Department of Pediatrics, Ehime University Graduate School of Medicine, Japan.

Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. Read More

Eur Spine J 2018 01 16;27(1):125-134. Epub 2017 Mar 16.

School of Medicine, University of Bari Aldo Moro, AOU Consorziale Policlinico, Department of Basic Medical Sciences, Neuroscience and Sense Organs, Orthopaedic, Trauma and Spine Unit, Piazza Giulio Cesare 11, 70100, Bari, Italy.

Purpose: The study of the interrelation between hip and spine disorders is gaining increasing importance in the last years, but the link between Hip Osteoarthritis (HOA) and Low Back Pain (LBP) remains still unclear. Aim of the study is to assess the relationship between Femoral Neck Anteversion (FNA), LBP, and spinopelvic parameters in patients undergoing Total Hip Replacement (THR) for unilateral severe primary HOA.

Materials And Methods: 91 patients were recruited. Read More

Eur Spine J 2017 07 9;26(7):1862-1870. Epub 2017 Mar 9.

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, 310009, China.

Background: Postural deformities in the coronal plane were frequent and disabling complications of PD, which reduces the quality of life of patients. This study aimed to garner greater attention to the Parkinson disease (PD)-related postural trunk deviations in the coronal plane by exploring a method for diagnosis because of the lack of any uniform diagnostic criteria and epidemiological studies. It also aimed to provide correlation data in the Chinese PD patients. Read More

Acta Ortop Mex 2016 Jul-Aug;30(4):196-200

Servicio de Ortopedia, Hospital General Xoco, Av. México Coyoacán S/N, Benito Juárez, Gral Anaya, 03340 , Ciudad de México, México.

Background: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis.

Objective: To present an optional surgical technique for the management of severe spinal deformities.

Case Report: Twelve-year-old female diagnosed with Escobar syndrome with severe scoliosis which conditions malformations of the chest with lung involvement, producing mechanical ventilatory restriction and increasing the risk of severe lower respiratory tract infection. Read More

Am J Physiol Endocrinol Metab 2017 05 28;312(5):E429-E436. Epub 2017 Feb 28.

CNR Institute of Clinical Physiology, Pisa, Italy.

While hyperthyroidism and hypothyroidism cause dysglycemia, the relationship between thyroid hormone levels within the normal range and insulin resistance (IR) is unclear. In 940 participants with strictly normal serum concentrations of free triiodothyronine (fT), free thyroxine (fT), and thyroid-stimulating hormone (TSH) followed up for 3 yr, we measured insulin sensitivity (by the insulin clamp technique) and 35 circulating metabolites. At baseline, across quartiles of increasing fT levels (or fT/fT ratio) most features of IR emerged [i. Read More

Redox Biol 2017 08 14;12:121-128. Epub 2017 Feb 14.

Linus Pauling Institute, Oregon State University, Corvallis, OR 97331, United States. Electronic address:

Electric conductivity in plasma is the balance between oxidized and reduced molecules (static Oxidation-Reduction Potential, sORP) and the amount of readily oxidizable molecules (capacity ORP, cORP). Adults with metabolic syndrome (MetS) have increased inflammation, dyslipidemia and oxidative stress; therefore, participants with MetS were hypothesized to have higher plasma sORP and lower cORP than those measures in healthy adults. Heparin-anticoagulated plasma from healthy and age- and gender-matched individuals with MetS (BMI: 22. Read More

Eur Spine J 2017 06 8;26(6):1595-1599. Epub 2017 Feb 8.

Department of Orthopaedic Surgery, G05.228, University Medical Center Utrecht, P.O. Box 85500, 3508, GA, Utrecht, The Netherlands.

Purpose: Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus.

Methods: Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle. Read More

Hum Mol Genet 2016 10;25(20):4389-4404

Institute of Neuroscience and Psychology, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK.

Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. Read More

Spine (Phila Pa 1976) 2017 Oct;42(19):E1112-E1118

*4th Orthopaedics Department of Orthopaedics hospital, Ankang City Central Hospital, No. 85 Jinzhou south Road, District Hanbin, Ankang City, Shanxi Province, China †Department of Spine Surgery, Honghui Hospital, Xi'an Jiaotong University, No. 76 Nanguo Road, Xi'an City, Shanxi Province, China.

Study Design: Clinical case series.

Objective: The aim of this study was to explore the efficacy and safety of one-stage debridement, autogenous bone graft, and instrumentation for lumbar brucella spondylitis (LBS) via a posterior approach.

Summary Of Background Data: Reports on LBS are sporadic, and the therapeutic effect and safety of surgical interventions have not been assessed in clinical studies. Read More

Addict Behav 2017 04 9;67:58-65. Epub 2016 Dec 9.

Department of Psychology & Center for Study of Tobacco Products, Virginia Commonwealth University, Richmond, VA, USA.

Alcohol and smoking frequently co-occur and alcohol is a primary trigger for smoking behavior and relapse back to smoking. This study examined whether several indices of alcohol use behavior and consequences of use would be associated with changes in implicit alcohol-approach versus implicit cigarette-approach cognitions under cigarette deprived and non-deprived cognitions in 109 smokers who drank at risky or non-risky levels. An Implicit Association Task (IAT) measured how quickly respondents paired alcohol and cigarette pictures with approach and avoid words. Read More

Nat Rev Neurol 2017 Jan 9;13(1):37-51. Epub 2016 Dec 9.

Telethon Kids Institute, 100 Roberts Road, Subiaco, Perth, Western Australia 6008, Australia.

In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. Read More

Spine (Phila Pa 1976) 2016 Oct;41(20):1600-1605

*Department of Neurosurgery, University of California San Diego, San Diego, California †Department of Orthopedics and Scoliosis Center, Rady Children's Hospital, San Diego, California ‡Department of Pediatric Neurosurgery, Rady Children's Hospital, San Diego, California §Department of Orthopedic Surgery, University of California San Diego, San Diego, California.

Study Design: This was a retrospective study of patients with Chiari I (CM I) and Chiari II (CM II) malformations, tethered cord syndrome, and syringomyelia examining the effect of neurosurgery on scoliosis.

Objective: The aim of this study was to determine the factors affecting spinal deformity progression in patients with diseases of the neural axis following neurosurgical management.

Summary Of Background Data: There have been attempts to explain which factors influence the spinal deformity in diseases of the neural axis with varying results. Read More

Neurochem Int 2016 11 10;100:110-119. Epub 2016 Sep 10.

Institute of Neuroscience and Psychology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK. Electronic address:

To quantify the full range of tryptophan metabolites along the kynurenine pathway, a liquid chromatography - tandem mass spectrometry method was developed and used to analyse brain extracts of rodents treated with the kynurenine-3-mono-oxygenase (KMO) inhibitor Ro61-8048 during pregnancy. There were significant increases in the levels of kynurenine, kynurenic acid, anthranilic acid and 3-hydroxy-kynurenine (3-HK) in the maternal brain after 5 h but not 24 h, while the embryos exhibited high levels of kynurenine, kynurenic acid and anthranilic acid after 5 h which were maintained at 24 h post-treatment. At 24 h there was also a strong trend to an increase in quinolinic acid levels (P = 0. Read More

J Psychosom Res 2016 09 19;88:42-7. Epub 2016 Jul 19.

Department of Psychology, University of Bath, Claverton Down, Bath, UK. Electronic address:

Objective: Psychological Flexibility (PF) is a relatively new concept in physical health. It can be defined as an overarching process of being able to accept the presence of wanted/unwanted experiences, choosing whether to change or persist in behaviour in response to those experiences. Associations between processes of PF and quality of life (QoL) have been found in long-term health conditions such as chronic pain, PF has not yet been applied to Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME). Read More

Medicine (Baltimore) 2016 Jun;95(26):e3775

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Guillain-Barré syndrome (GBS) is an acute autoimmune inflammatory demyelinating polyneuropathy that mostly affects the peripheral nervous system. Little is reported about spinal deformity associated with GBS. This study aims to present a case of scoliosis occurring in the setting of GBS. Read More