keyword
https://read.qxmd.com/read/38297306/clinical-features-and-molecular-genetic-investigation-of-infantile-onset-ascending-hereditary-spastic-paralysis-iahsp-in-two-chinese-siblings-caused-by-a-novel-splice-site-als2-variation
#1
JOURNAL ARTICLE
Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin
OBJECTIVE: ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In this study, we gathered clinical data from two Chinese siblings who were affected by IAHSP. Our aim was to assess the potential pathogenicity of the identified variants and analyze their clinical and genetic characteristics. METHOD: Here, Whole-exome sequencing (WES) was performed on proband to identify the candidate variants...
January 31, 2024: BMC Medical Genomics
https://read.qxmd.com/read/36642969/deformity-correction-with-interbody-fusion-using-lateral-versus-posterior-approach-in-adult-degenerative-scoliosis-a-systematic-review-and-observational-meta-analysis
#2
JOURNAL ARTICLE
Samarth Mittal, Pudipeddi Venkata Sudhakar, Kaustubh Ahuja, Syed Ifthekar, Gagandeep Yadav, Shivendra Sinha, Nikhil Goyal, Vishal Verma, Bhaskar Sarkar, Pankaj Kandwal
This study was designed to systematically review and meta-analyze the functional and radiological outcomes between lateral and posterior approaches in adult degenerative scoliosis (ADS). Both lateral (lumbar, extreme, and oblique) and posterior interbody fusion (posterior lumbar and transforaminal) are used for deformity correction in patients with ADS with unclear comparison in this cohort of patients in the existing literature. A literature search using three electronic databases was performed to identify studies that reported outcomes of lateral (group L) and posterior interbody fusion (group P) in patients with ADS with curves of 10°-40°...
January 16, 2023: Asian Spine Journal
https://read.qxmd.com/read/35614450/retrograde-intrarenal-surgery-for-impacted-upper-ureteral-stone-in-a-patient-with-advanced-lumbar-scoliosis-and-lower-extremity-development-defect-a-case-report
#3
JOURNAL ARTICLE
Yavuz Güler
BACKGROUND: Today, retrograde intrarenal surgery is the most preferred and very successful treatment method for upper ureteral stones that do not spontaneously pass and/or do not benefit from extracorporeal wave lithotripsy. However, perioperative complications are more common in retrograde intrarenal surgery if the stone in the ureter is impacted. Moreover, urosepsis and renal dysfunction are detected more frequently in patients with impacted stones. Impacted stones, which are a risky stone group even in patients with normal vertebral anatomy, are a more challenging situation in patients with advanced vertebral scoliosis...
May 26, 2022: Journal of Medical Case Reports
https://read.qxmd.com/read/34372818/combined-topical-and-intravenous-administration-of-tranexamic-acid-further-reduces-postoperative-blood-loss-in-adolescent-idiopathic-scoliosis-patients-undergoing-spinal-fusion-surgery-a-randomized-controlled-trial
#4
RANDOMIZED CONTROLLED TRIAL
Yulei Dong, Jinqian Liang, Bingdu Tong, Jianxiong Shen, Hong Zhao, Qiyi Li
BACKGROUND: To indicate whether combined topical and intravenous (IV) administration of tranexamic acid (TXA) could further reduce the blood loss after surgery for adolescent idiopathic scoliosis (AIS) compared with IV-TXA alone. METHODS: Ninety AIS patients who underwent posterior spinal fusion were prospectively randomized to combined group (IV + topical- TXA group) and IV-TXA alone group. TXA was infused at a loading dose of 1 g from the beginning of the surgery with a maintenance dose of 10 mg/kg/h until the wound was closed...
August 9, 2021: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/31849183/topical-injection-of-tranexamic-acid-via-a-drain-plus-drain-clamping-to-reduce-blood-loss-in-degenerative-lumbar-scoliosis-surgery
#5
JOURNAL ARTICLE
Jin-Qian Liang, Tian-Hua Rong, Hong-Zhe Liu, Ming-Sheng Tan, Hong Zhao, Xiang-Yang Liu, Lei Chang
OBJECTIVE: The aim of the present study was to investigate whether an innovative way of administering tranexamic acid (TXA), that is, injecting it retrogradely through the drain and clamping it for 1 h, can reduce postoperative bleeding after degenerative lumbar scoliosis surgery. METHODS: Sixty degenerative lumbar scoliosis patients who underwent posterior lumbar decompression with fusion of three or more levels were retrospectively enrolled and categorized into three groups (TXA, Gelfoam, and control groups)...
February 2020: Orthopaedic Surgery
https://read.qxmd.com/read/29796731/sexual-activity-after-spine-surgery-a-systematic-review
#6
JOURNAL ARTICLE
Azeem Tariq Malik, Nikhil Jain, Jeffery Kim, Safdar N Khan, Elizabeth Yu
INTRODUCTION: Sexual function is an important determinant of quality of life, and factors such as surgical approach, performance of fusion, neurological function and residual pain can affect it after spine surgery. Our aim was to perform a systematic review to collate evidence regarding the impact of spine surgery on sexual function. METHODS: A systematic review of studies reporting measures of sexual function, and incidence of adverse sexual outcomes (retrograde ejaculation) after major spine surgery was done, regardless of spinal location...
October 2018: European Spine Journal
https://read.qxmd.com/read/25936417/retrograde-intrarenal-surgery-by-flexible-ureteroscope-in-patients-with-spinal-deformities
#7
JOURNAL ARTICLE
Fazli Polat, Suleyman Yesil
OBJECTIVE: To present our experience with retrograde intrarenal surgery (RIRS) for managing renal stones in patients with spinal deformities. DESIGN: We retrospectively reviewed the records of patients. METHODS: We retrospectively reviewed the records of seven patients with congenital scoliosis (n = 5), spina bifida (n = 2) who had undergone RIRS for renal stones. Stone-free status was determined by CT 30 days after the procedure and was defined as the absence of stones in the kidney or residual fragments ≤1 mm...
January 2017: Journal of Spinal Cord Medicine
https://read.qxmd.com/read/25850388/complications-and-neurological-deficits-following-minimally-invasive-anterior-column-release-for-adult-spinal-deformity-a-retrospective-study
#8
JOURNAL ARTICLE
Gisela Murray, Joshua Beckman, Konrad Bach, Donald A Smith, Elias Dakwar, Juan S Uribe
BACKGROUND: Minimally invasive techniques have become increasing popular and are expanding into deformity surgery. The lateral retroperitoneal transpsoas anterior column release (ACR) is a newer minimally invasive alternative to posterior osteotomy techniques for correcting and promoting global spinal alignment. This procedure attempts to avoid the potential complications associated with conventional osteotomies, but has its own subset of unique complications to be discussed in depth...
April 2015: European Spine Journal
https://read.qxmd.com/read/23595743/restricted-neural-plasticity-in-vestibulospinal-pathways-after-unilateral-labyrinthectomy-as-the-origin-for-scoliotic-deformations
#9
JOURNAL ARTICLE
François M Lambert, David Malinvaud, Maxime Gratacap, Hans Straka, Pierre-Paul Vidal
Adolescent idiopathic scoliosis in humans is often associated with vestibulomotor deficits. Compatible with a vestibular origin, scoliotic deformations were provoked in adult Xenopus frogs by unilateral labyrinthectomy (UL) at larval stages. The aquatic ecophysiology and absence of body-weight-supporting limb proprioceptive signals in amphibian tadpoles as a potential sensory substitute after UL might be the cause for a persistent asymmetric descending vestibulospinal activity. Therefore, peripheral vestibular lesions in larval Xenopus were used to reveal the morphophysiological alterations at the cellular and network levels...
April 17, 2013: Journal of Neuroscience
https://read.qxmd.com/read/23250515/access-related-complications-in-anterior-lumbar-surgery-performed-by-spinal-surgeons
#10
JOURNAL ARTICLE
Nasir A Quraishi, M Konig, S J Booker, M Shafafy, B M Boszczyk, M P Grevitt, H Mehdian, J K Webb
PURPOSE: Anterior lumbar surgery is a common procedure for anterior lumbar interbody fusion (ALIF) and artificial disc replacement (ADR). Our aim was to study the exposure related complications for anterior lumbar spinal surgery performed by spinal surgeons. METHODS: A retrospective review was performed for 304 consecutive patients who underwent anterior lumbar spinal surgery over 10 years (2001-2010) at our institution. Each patient's records were reviewed for patients' demographics, diagnosis, level(s) of surgery, procedure and complications related to access surgery...
March 2013: European Spine Journal
https://read.qxmd.com/read/22533361/retrograde-intrarenal-surgery-in-patients-with-spinal-deformities
#11
JOURNAL ARTICLE
Berkan Resorlu, Ekrem Ozyuvali, Ural Oguz, Omer Faruk Bozkurt, Ali Unsal
PURPOSE: To present our experience with retrograde intrarenal surgery (RIRS) for managing renal stones in patients with spinal deformities. PATIENTS AND METHODS: We retrospectively reviewed the records of eight patients with congenital scoliosis (n=6), ankylosing spondylitis (n=1), or spina bifida (n=1) who had undergone RIRS for renal stones. Stone-free status was determined by CT 30 days after the procedure and was defined as the absence of stones in the kidney or residual fragments ≤ 1 mm...
September 2012: Journal of Endourology
https://read.qxmd.com/read/21256569/is-percutaneous-nephrolithotomy-suitable-for-patients-with-scoliosis-single-center-experience
#12
JOURNAL ARTICLE
Cengiz Kara, Berkan Resorlu, Ekrem Ozyuvali, Ali Unsal
OBJECTIVES: To present our experience with percutaneous nephrolithotomy (PCNL) for treating urolithiasis in patients with scoliosis. METHODS: We retrospectively reviewed the records of 5 patients with congenital scoliosis who had undergone PCNL. The demographic data, number and location of access sites, hemoglobin values, stone analyses, and complications were studied. Of the 5 patients, 3 had a history of failed shock wave lithotripsy, and 2 had undergone stone intervention in same kidney...
July 2011: Urology
https://read.qxmd.com/read/20681202/osteoblastoma-of-the-spine
#13
JOURNAL ARTICLE
Z R Poleksić, V J Lalosević, Z B Milinković
A retrograde analysis of 64 spinal osteoblastomas treated by surgery during the period 1963 - 2005 has been made. Spinal osteoblastomas were presented in 36% of all skeletal localizations. There were 44 male and 20 female patients. The average age of patients at the time of surgery was 14 years. Localizations of the osteoblastomas were cervical spine in 8 cases, dorsal spine in 16 cases, lumbar spine in 38 cases and sacrum in 2 cases. Osteoblastomas predominantly involved posterolateral vertebral elements, although in two cases a primary localization was in vertebral bodies...
2010: Acta Chirurgica Iugoslavica
https://read.qxmd.com/read/19119935/an-analysis-of-general-surgery-related-complications-in-a-series-of-412-minilaparotomic-anterior-lumbosacral-procedures
#14
JOURNAL ARTICLE
Byung-Uk Kang, Won-Chul Choi, Sang-Ho Lee, Sang Hyeop Jeon, Jong Dae Park, Dae Hyeon Maeng, Young-Geun Choi
OBJECT: Anterior lumbar surgery is associated with certain perioperative visceral and vascular complications. The aim of this study was to document all general surgery-related adverse events and complications following minilaparotomic retroperitoneal lumbar procedures and to discuss strategies for their management or prevention. METHODS: The authors analyzed data obtained in 412 patients who underwent anterior lumbosacral surgery between 2003 and 2005. The series comprised 114 men and 298 women whose mean age was 56 years (range 34-79 years)...
January 2009: Journal of Neurosurgery. Spine
https://read.qxmd.com/read/17401292/-superior-mesenteric-artery-syndrome-following-correction-of-spinal-deformity-case-report-and-review-of-the-literature
#15
REVIEW
F Zadegan, T Lenoir, O Drain, C Dauzac, R Leroux, E Morel, P Guigui
Superior mesenteric artery syndrome is a rare complication which can develop after surgical correction of a spinal deformity. The syndrome is caused by an extrinsic compression on the third portion of the duodenum by the aorta posteriorly and the mesenteric artery anteriorly. We report here a case of aortomesenteric compression of the duodenum secondary to surgical correction of lower thoracic scoliosis in a 19-year-old female. The patient presented vomiting and intestinal obstruction ten days after spinal surgery...
April 2007: Revue de Chirurgie Orthopédique et Réparatrice de L'appareil Moteur
https://read.qxmd.com/read/16774819/noninvasive-positive-pressure-ventilation-prevents-postoperative-pulmonary-complications-in-chronic-ventilators-users
#16
JOURNAL ARTICLE
M Lumbierres, E Prats, E Farrero, C Monasterio, T Gracia, F Manresa, J Escarrabill
OBJECTIVE: To evaluate the postoperative pulmonary complications and the long-term impact on pulmonary function of different surgical procedures with general anaesthesia in chronic respiratory failure (CRF) patients who were using noninvasive positive pressure ventilation (NPPV). DESIGN: We retrospectively studied 20 stable patients on NPPV for CRF secondary to: kyphoscoliosis (eight), morbid obesity (six), thoracoplasty (four), neuromuscular diseases (two), who underwent surgical procedures with general anaesthesia, between January 1998 and December 2003...
January 2007: Respiratory Medicine
https://read.qxmd.com/read/15284517/endoscopic-lateral-transpsoas-approach-to-the-lumbar-spine
#17
JOURNAL ARTICLE
Darren L Bergey, Alan T Villavicencio, Theodore Goldstein, John J Regan
STUDY DESIGN: A description of a novel surgical approach to the lumbar spine and a prospective evaluation of the early surgical outcomes. OBJECTIVES: Describe the early postoperative results and the operative technique of a new, minimally invasive transpsoas approach for anterior fusion of the lumbar spine that minimizes the risk to large vessels and other critical structures. SUMMARY OF BACKGROUND DATA: Standard anterior endoscopic approaches to the lumbar spine require mobilization of the great vessels and sympathetic plexus...
August 1, 2004: Spine
https://read.qxmd.com/read/9238674/endometriosis-associated-with-the-n314d-mutation-of-galactose-1-phosphate-uridyl-transferase-galt
#18
COMPARATIVE STUDY
D W Cramer, M D Hornstein, W G Ng, R L Barbieri
To explore a possible connection between endometriosis, Müllerian anomalies, and possession of the N314D allele of the gene for galactose-1-phosphate uridyl transferase (GALT), we studied 33 women with endometriosis attending a fertility clinic. Patients completed questionnaires and had DNA tested for the N314D mutation of GALT. A previously completed general population survey of 111 women which obtained the same information was available for comparison. Women with endometriosis were more likely to carry at least one N314D allele (30% compared with 14%) and more likely to report a medical history of scoliosis (21% compared with 2%) compared to general population controls: two features we have described in women with vaginal agenesis...
March 1996: Molecular Human Reproduction
https://read.qxmd.com/read/6495012/sexual-complications-of-anterior-fusion-of-the-lumbar-spine
#19
JOURNAL ARTICLE
J C Flynn, C T Price
Recently, there is renewed interest in anterior fusion for spondylolisthesis and congenital and paralytic scoliosis with pelvic obliquity. Some of the candidates are prepubertal boys. Sterility after surgery in urogenitally normal prepubertal boys will not be determined until these patients mature. A worldwide survey of 20 surgeons with 15-20 years of experience (4,500 cases) reports the frequency of sterility (retrograde ejaculation) to be 19 cases (0.42%) and impotence 20 cases (0.44%). One-fourth of the retrograde ejaculation cases resolved and became normal...
July 1984: Spine
https://read.qxmd.com/read/6197498/-experimental-study-on-the-etiology-of-idiopathic-scoliosis-a-deviation-of-lower-motor-neurons-of-the-spinal-muscle-detected-by-the-horseradish-peroxidase-method
#20
JOURNAL ARTICLE
J Mochida
In order to elucidate the etiology of idiopathic scoliosis, studies were carried out by HRP method on the topographical localization and numerical alteration of spinal motor neurons innervating the spinal muscle of the non-scoliotic Japanese quail and the scoliotic one established by S. Hijikata in 1976. The topographical localization of spinal motor neurons innervating the triceps brachii muscle of the both groups, furthermore, was examined by the same method, and the anatomical fiber connection between the spinal motor neurons and the related spinal muscles was studied by central chromatolysis method...
July 1983: Nihon Seikeigeka Gakkai Zasshi
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