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https://www.readbyqxmd.com/read/28929913/development-of-acute-promyelocytic-leukemia-in-a-patient-with-tetraplegia-while-in-inpatient-rehabilitation-a-case-report
#1
Christopher A Beal, Michael C Krouse, Jeffrey T Tubbs
STUDY DESIGN: a single case report. OBJECTIVES: To report a case of a patient with tetraplegia who developed acute promyelocytic leukemia (APL) while in inpatient rehabilitation after 10.5 months. SETTING: A VA Medical Center Spinal Cord Injury Service and Disorders Unit Case Report: A 47 year-old male with a stage IV sacral pressure ulcer and C4 AIS A complete tetraplegia secondary to a motor vehicle collision, developed fever, thrombocytopenia, and anemia 20 months after his injury while in inpatient rehabilitation and was found to have APL, confirmed following bone marrow biopsy...
September 20, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28929094/gestational-age-dependent-increase-of-survival-motor-neuron-protein-in-umbilical-cord-derived-mesenchymal-stem-cells
#2
Sota Iwatani, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Shinya Tairaku, Akemi Shono, Daisuke Kurokawa, Keiji Yamana, Khin Kyae Mon Thwin, Makiko Yoshida, Masami Mizobuchi, Tsubasa Koda, Kazumichi Fujioka, Mariko Taniguchi-Ikeda, Hideto Yamada, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Noriyuki Nishimura
BACKGROUND: Spinal muscular atrophy (SMA) is the most common genetic neurological disease leading to infant death. It is caused by loss of survival motor neuron (SMN) 1 gene and subsequent reduction of SMN protein in motor neurons. Because SMN is ubiquitously expressed and functionally linked to general RNA metabolism pathway, fibroblasts (FBs) are most widely used for the assessment of SMN expression in SMA patients but usually isolated from skin biopsy samples after the onset of overt symptoms...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28904580/extradural-spinal-metastasis-in-ovarian-mixed-germ-cell-tumor
#3
Deepashu Sachdeva, Vikas Kumar, Ravindra Kumar Saran, Arvind Kumar Srivastava
Ovarian germ cell tumors (GCTs) are rare and affect mainly young girls and women. Two histological groups are distinguished: dysgerminomas and nondysgerminomatous tumors. These tumors have initial good responses to surgery and chemotherapy in 80% cases, but >75% of patients die due to complications of disease progression. There are very few case reports of mixed GCT with extradural spine metastases. We report a rare case of a 17-year-old girl who had undergone left salpingo-oophorectomy with omental and peritoneal biopsy for ovarian GCT with extradural spinal metastasis...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28900844/a-pilot-study-on-the-use-of-cerebrospinal-fluid-cell-free-dna-in-intramedullary-spinal-ependymoma
#4
Ian David Connolly, Yingmei Li, Wenying Pan, Eli Johnson, Linya You, Hannes Vogel, John Ratliff, Melanie Hayden Gephart
Cerebrospinal fluid (CSF) represents a promising source of cell-free DNA (cfDNA) for tumors of the central nervous system. A CSF-based liquid biopsy may obviate the need for riskier tissue biopsies and serve as a means for monitoring tumor recurrence or response to therapy. Spinal ependymomas most commonly occur in adults, and aggressive resection must be delicately balanced with the risk of injury to adjacent normal tissue. In patients with subtotal resection, recurrence commonly occurs. A CSF-based liquid biopsy matched to the patient's spinal ependymoma mutation profile has potential to be more sensitive then surveillance MRI, but the utility has not been well characterized for tumors of the spinal cord...
September 12, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28899595/peripheral-nerve-pathology-at-fixed-stage-in-spinal-muscular-atrophy-with-respiratory-distress-type-1
#5
Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, Mio Tanaka, Yukichi Tanaka, Akihiro Hashiguchi, Hiroshi Takashima, Tomohide Goto
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy. After an initial decline in respiratory state and motor function until 1-2years of age, residual capabilities reach a plateau. We report the peripheral neuropathological findings of a patient with SMARD1 at 1year and 1month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months...
September 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28898798/free-disease-long-term-survival-in-primary-thoracic-spine-leiomyosarcoma-after-total-en-bloc-spondylectomy-a-case-report
#6
José Ramirez-Villaescusa, Adriana Canosa-Fernández, Antonio Martin-Benlloch, David Ruiz-Picazo, Jesús López-Torres Hidalgo
INTRODUCTION: To describe an unusual primary vertebral leiomyosarcoma in thoracic spine. PRESENTATION OF CASE: An isolated lesion of the T11 vertebra in a 62-year-old woman with no neurologic deficit is reported. Imaging findings indicated a nonspecific high-grade malignant lesion. TC-guided biopsy failed thus open incisional biopsy was needed. A diagnosis of low-intermediate mesenchymal sarcoma was made. A total en bloc spondylectomy of T11 was performed with three-column reconstruction...
September 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28890232/complete-progressive-ophthalmoplegia-and-numb-chin-syndrome-the-first-clinical-manifestations-of-a-lethal-abdominal-burkitt-lymphoma
#7
Smaranda Maier, Rodica Bălaşa, Zoltan Bajko, Iunius Simu, Emoke Horvath
A 57-year-old patient was admitted to the Neurology Clinic for hypoesthesia, intense pain in the right chin and double vision. During the hospitalization, the patient developed progressive complete bilateral ophthalmoplegia and numbness of both sides of the chin. Brain CT and MRI scans with gadolinium were normal. Standard laboratory tests on admission were normal. The cerebral spinal fluid examination and the infectious and autoimmune workup were also normal. A thoracic-abdominal and pelvic CT scan revealed two hypodense lesions in the liver, irregular thickening of the gastric and ileal wall, and multiple abdominal adenopathies...
August 18, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28887080/a-rare-case-of-metastatic-extramammary-paget-disease-of-the-spine-and-review-of-the-literature
#8
A Karim Ahmed, C Rory Goodwin, Nancy Abu-Bonsrah, Doreen Nguyen, Daniel M Sciubba
Extramammary Paget disease is an intraepithelial neoplasm affecting cells rich in apocrine glands-often located in the vulvar, scrotal, or perianal region. It typically affects older patients, between the ages of 50 and 80years old, and is most often limited to the epidermis. A 47-year-old Asian male first presented with enlargement of the right inguinal lymph node. A subsequent biopsy revealed extrammamary Paget disease of the scrotum. The patient eventually developed significant worsening back pain with bilateral lower extremity numbness and weakness three months later...
September 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28885290/spinal-gout-without-spinal-symptom-in-a-junior-school-student-a-case-report
#9
Danbin Wu, Jiajian Ma, Songsong Li, Jinwei Zhao, Ling Li
STUDY DESIGN: Case report OBJECTIVES.: We report a case of a 16-year-old boy with intermittent and migratory polyarthralgia, who made a diagnostic dilemma. SUMMARY OF BACKGROUND DATA: Spinal involvement without spinal symptom in gout seems to be rare. However, the relationship of spinal gout to symptoms is poorly understood. METHODS: Description of the case report. RESULTS: Laboratory findings can't explain his symptoms, however, a computed tomography of the pelvis revealed the presence of space-occupying lesion involving the left side of spine at L5-S1level, and the later biopsy revealed that was a urate crystal, which help us make the diagnosis of spinal gout...
September 6, 2017: Spine
https://www.readbyqxmd.com/read/28882936/ganglioneuroma-of-the-retropharyngeal-space-in-a-patient-with-glottic-cancer
#10
Raquel Baptista Dias, Duarte Rosa, Miguel Rito, Alexandra Borges
We describe the case of a 71-year-old man with a ganglioneuroma of the retropharyngeal space. The patient presented with a submucosal bulge of the left oropharyngeal wall during follow-up examination of a treated vocal cord carcinoma. CT and MRI revealed a non-specific, well-defined retropharyngeal soft tissue lesion. Positron emission tomography-CT did not show relevant metabolic activity, excluding the hypothesis of metastatic nodal disease. Surgical biopsy of the lesion was compatible with ganglioneuroma...
September 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28882353/neurophysiological-monitoring-in-radiofrequency-ablation-of-spinal-osteoid-osteoma-with-a-progressive-time-and-temperature-protocol-in-children
#11
Mariano A Nöel, Martin J Segura, Sergio Sierre, Ida A Francheri Wilson, Carlos A Tello, Eduardo Galaretto, Rodrigo G Remondino, María E Talarico, Ernesto S Bersusky, Lucas Piantoni
STUDY DESIGN: Retrospective. Level IV Evidence. OBJECTIVE: To assess the utility of intraoperative neurophysiological monitoring (IONM) to detect and eventually prevent impending neurovascular damage during computed tomography (CT)-guided radiofrequency ablation (RFA) of spinal osteoid osteoma (OO) in children. SUMMARY AND BACKGROUND DATA: To our knowledge, this is the first case series of spinal OO in pediatric patients treated at a single center employing IONM during RFA...
September 2017: Spine Deformity
https://www.readbyqxmd.com/read/28868185/t2-vertebrectomy-with-combined-anterior-and-posterior-arthrodesis-for-treatment-of-a-solitary-plasmacytoma
#12
Gordon Preston, Toomas Anton
BACKGROUND: Plasma cell neoplasmas are a heterogenous group of neoplastic tumor lesions occurring secondary to disordered proliferation of cells from a monocyte lineage. Plasmacytoma is a rare lesion that accounts for 5% of all plasma cell neoplasms. The current recommended treatment for solitary plasmacytoma is moderate dose radiation therapy. For patients who are suffering from axial back pain, spinal instability, radiculopathy, or bowel/bladder dysfunction secondary to spinal cord compression, surgical intervention with spinal decompression and stabilization can be used as an adjuvant to radiation therapy...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28864949/skeletal-muscle-mitochondrial-mass-is-linked-to-lipid-and-metabolic-profile-in-individuals-with-spinal-cord-injury
#13
Laura C O'Brien, Qun Chen, Jeannie Savas, Edward J Lesnefsky, Ashraf S Gorgey
PURPOSE: Changes in metabolism and body composition after spinal cord injury (SCI) predispose individuals to obesity, type II diabetes, and cardiovascular disease. A link between lean mass and skeletal muscle mitochondrial mass has been reported but it is unknown how skeletal muscle mitochondrial mass and activity impact metabolic health. This study examined the relationship between skeletal muscle mitochondrial mass, activity and metabolic profile in individuals with chronic SCI. METHODS: Twenty-two men with motor complete SCI participated in the study...
September 1, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28855494/charcot-marie-tooth-disease-type-2-caused-by-homozygous-mme-gene-mutation-superimposed-by-chronic-inflammatory-demyelinating-polyneuropathy
#14
Miwako Fujisawa, Yasuteru Sano, Masatoshi Omoto, Jyun-Ichi Ogasawara, Michiaki Koga, Hiroshi Takashima, Takashi Kanda
We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnosed as autosomal-recessive Charcot-Marie-Tooth disease 2T (AR-CMT2T); however, electrophysiological examinations revealed scattered demyelinative changes including elongated terminal latency in several peripheral nerve trunks...
August 31, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28853177/recent-advances-in-ce-and-microchip-ce-in-clinical-applications-2014-to-mid-2017
#15
Terry M Phillips
CE and microchip CE (ME)are powerful tools for the analysis of a number of different analytes and have been applied to a variety of clinical fields and human samples. This review will present an overview of the most recent applications of these techniques to different areas of clinical medicine during the period of 2014 to mid-2017. CE and ME have been applied to clinical chemistry, drug detection and monitoring, hematology, infectious diseases, oncology, endocrinology, neonatology, nephrology, and genetic screening...
August 29, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28845941/-ultrasound-guided-percutaneous-cryoablation-of-renal-tumors
#16
D V Enikeev, P V Glybochko, Yu G Alyaev, L M Rapoport, A V Amosov, T M Alekseeva, M E Enikeev, D G Tsarichenko, D V Chinenov, L D Kozmin, Z K Dzhalaev, M S Taratkin
INTRODUCTION: Surgery remains the gold-standard curative treatment for localized (T1) renal carcinoma. However, recent medical-technological advances have led to the development of new minimally invasive treatment options, one of which is percutaneous cryoablation. AIM: To assess the effectiveness and safety of ultrasound-guided percutaneous cryoablation of renal tumors. MATERIALS AND METHODS: The study comprised 12 patients aged 52 to 76 years who underwent ultrasound-guided percutaneous cryoablation of renal tumors from 2015 to 2017...
July 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28843345/cyclosporine-immunosuppression-does-not-affect-survival-of-transplanted-skin-derived-precursor-schwann-cells-in-the-injured-rat-spinal-cord
#17
Zacnicte May, Abel Torres-Espín, Ana M Lucas-Osma, Nicholas J Batty, Pamela Raposo, Keith K Fenrich, Morgan G Stykel, Tobias Führmann, Molly Shoichet, Jeff Biernaskie, Karim Fouad
A major goal of Schwann cell (SC) transplantation for spinal cord injury (SCI) is to fill the injury site to create a bridge for regenerating axons. However, transplantation of peripheral nerve SCs requires an invasive biopsy, which may result in nerve damage and donor site morbidity. SCs derived from multipotent stem cells found in skin dermis (SKP-SCs) are a promising alternative. Regardless of source, loss of grafted SCs post-grafting is an issue in studies of regeneration, with survival rates ranging from ∼1 to 20% after ≥6 weeks in rodent models of SCI...
August 24, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28840068/a-case-of-symptomatic-spinal-dural-arteriovenous-fistula-after-high-volume-lumbar-puncture
#18
Thomas Noh, Rahul Chandra, Jimmy Kim, Ian Lee
BACKGROUND: Spinal dural arteriovenous fistulas (DAVFs) are rare lesions that lead to venous congestion and ischemic injury resulting in neurologic deterioration. Here we present a patient diagnosed with glioblastoma multiforme (GBM) who became symptomatic from a spinal DAVF after a diagnostic high-volume lumbar puncture (LP). CASE DESCRIPTION: When a 72-year-old female developed partial seizures in her left upper extremity without other focal neurological deficits, she underwent a magnetic resonance imaging (MRI) scan of the brain...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28834446/-scout-no-scan-technique-reduces-patient-radiation-exposure-during-ct-guided-spine-biopsy
#19
Aaron Bress, Scott Metzler, Christopher Plastaras, Cuong Nguyen, James M Schuster, Bryan Pukenas
OBJECTIVE: The objective of this article is to report our experience with a technique for CT-guided spine biopsies that we refer to as the "scout no scan" technique. CONCLUSION: The scout no scan technique can significantly lower radiation exposure while maintaining high diagnostic yields for CT-guided spinal biopsies.
August 23, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28819600/extensively-drug-resistant-tuberculosis-of-the-lumbar-spine-in-a-six-year-old-child-a-case-report
#20
Siddharth Sanjay Shah, Aakanksha Arvind Goregaonkar, Arvind Balkrishna Goregaonkar
INTRODUCTION: The emergence of extensively drug-resistant tuberculosis (XDR-TB) is a challenging paradigm shift faced by the TB control programs worldwide today. The treatment is further compounded with unique management difficulties faced in pediatric patients. Treatment of XDR-TB requires prolonged chemotherapy with second-line drugs which offer lesser potency and increased risk of drug-related side effects. We present a case of spinal XDR-TB in a child, managed with extended second-line antitubercular chemotherapy (ATT)...
March 2017: Journal of Orthopaedic Case Reports
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