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https://www.readbyqxmd.com/read/28326208/a-child-as-a-donor-for-hematopoietic-stem-cell-transplantation-bioethical-justification-a-case-study-on-sickle-cell-disease
#1
Andrea Z Pereira, Ricardo Hellman, Nelson Hamerschlak, Andrea Kondo, Polianna Mara Rodrigues de Souza, Wilson Leite Pedreira, Luiz Fernando Alves Lima Mantovani, Eduardo Juan Troster, Henrique Grunspun, Marco Aurélio Scarpinella Bueno
Hematopoietic stem cell transplantation (HSCT) is an important treatment option for children with severe and refractory sickle cell disease (SCD) with debilitating clinical complications. HSCT with cells from the bone marrow of a HLA-identical sibling used in SCD has a low mortality risk, high cure rate, and high event-free survival rate after a median follow-up of 5-6 years. However, matched donors are found in only about 20% of the patients. A boy aged 8 years with SCD had a sister, <2 years old, a fully compatible donor...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28321683/resistance-training-using-a-novel-robotic-walker-for-over-ground-gait-rehabilitation-a-preliminary-study-on-healthy-subjects
#2
Kyung-Ryoul Mun, Brandon Bao Sheng Yeo, Zhao Guo, Soon Cheol Chung, Haoyong Yu
Strength training is an aspect of gait rehabilitation, which complements balance control and weight-bearing training. However, conventional strength training does not show positive gait outcomes, due to lack of task specificity. Therefore, the aims of this study were to investigate the effects of a resistance force applied at the center of mass (CoM) and to investigate whether this exercise can be used for effective task-specific gait training. Using a novel robotic walker, a consistent resistive force was applied to the CoM of subjects in the posterior direction...
March 20, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28279770/transoral-decompression-and-anterior-stabilization-of-atlantoaxial-joint-in-patients-with-basilar-impression-and-chiari-malformation-type-i-a-technical-report-2-clinical-cases
#3
Alexey Nikolaevich Shkarubo, Alexander Alekseevich Kuleshov, Ilia Valerievich Chernov, Marchel Stepanovich Vetrile
OBJECT: presentation of clinical cases involving successful anterior stabilization of the C1-C2 segment in patients with invaginated C2 odontoid process and Chiari malformation type I. STUDY DESIGN: clinical case description. RESULTS: two patients with C2 odontoid processes invagination and Chiari malformation type I were surgically treated using the transoral approach. In both cases, anterior decompression of the upper cervical region was performed, followed by anterior stabilization of the C1-C2 segment...
March 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28277419/complications-after-continuous-posterior-lumbar-plexus-blockade-for-total-hip-arthroplasty-a-retrospective-cohort-study
#4
Catherine W Njathi, Rebecca L Johnson, Ruple S Laughlin, Darrell R Schroeder, Adam K Jacob, Sandra L Kopp
BACKGROUND AND OBJECTIVES: While benefits of regional anesthesia in total hip arthroplasty (THA) are well documented, data describing the incidence of complications related to the use of posterior lumbar plexus blockade for THA remain limited. Our primary aim was to evaluate the incidence of infectious, bleeding, and neurological complications related specifically to the use of continuous posterior lumbar plexus block for elective THA. METHODS: We reviewed the electronic medical records of all adult patients who underwent elective THA with continuous posterior lumbar plexus blockade between December 1, 2004, and April 30, 2015, using the Mayo Clinic Total Joint Registry...
March 8, 2017: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28264709/a-rare-presentation-of-myxofibrosarcoma-as-a-pancoast-tumor-a-case-report
#5
Vasa Jevremovic, Adnan Yousuf, Zulfiqar Hussain, Amer Abboud, Edgar G Chedrawy
BACKGROUND: Myxofibrosarcoma is an aggressive soft tissue neoplasm, classified as a variant of malignant fibrous histiocytoma. Most often, it occurs in middle to late adult life peaking in the seventh decade and involving the lower extremities (77%), trunk (12%), and retroperitoneum or mediastinum (8%). We report the first case of thoracic myxofibrosarcoma presenting as a Pancoast tumor. CASE PRESENTATION: A 48-year-old non-tobacco smoking African-American man presented with a slow-growing mass in his neck along with 11 kg weight loss over 9 months...
March 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28262354/effects-of-joint-stabilizers-on-proprioception-and-stability-a-systematic-review-and-meta-analysis
#6
REVIEW
Shashank Ghai, Matthew Driller, Ishan Ghai
OBJECTIVE: The current review and meta-analysis systematically investigated the effect of joint stabilizers on proprioception, postural stability, and neurological activity. METHODS: Systematic identification of published literature was performed on online databases; Scopus, PEDro, SportDiscus, and EMBASE, followed by a critical PEDro methodological quality appraisal. Data from the studies were extracted and summarized in a tabular format. RESULTS: Of 2954 records, 50 studies, involving 1443 participants met our inclusion criteria...
May 18, 2016: Physical Therapy in Sport
https://www.readbyqxmd.com/read/28253944/-management-of-odontoid-fractures-with-compression-screw-and-anterior-transarticular-screw-fixation-in-elderly-patients
#7
J Kočiš, M Kelbl, R Veselý, T Kočiš
PURPOSE OF THE STUDY In the management of dens axis fractures in patients older than 65 years of age the posterior approach is preferred due to osteoporosis and the risk of a failure of anterior osteosynthesis. The posterior approach, however, is associated with a higher incidence of complications. A combination of anterior transarticular fixation of C1/2 (ATS) with compression osteosynthesis of dens axis significantly increases the stability of osteosynthesis. MATERIAL AND METHODS In the period from 2009 to 2015 our hospital admitted 13 patients older than 65 years of age with a diagnosed type III dens axis fracture based on AO classification...
2017: Acta Chirurgiae Orthopaedicae et Traumatologiae Cechoslovaca
https://www.readbyqxmd.com/read/28243380/patient-reported-outcomes-from-sacroiliac-joint-fusion
#8
Vamsi K Kancherla, Shane M McGowan, Brittany N Audley, Gbolabo Sokunbi, Steven T Puccio
STUDY DESIGN: Retrospective, case series. PURPOSE: The purpose of this study is to determine morbidity, complications, and patient reported outcomes from minimally invasive sacroiliac joint (SIJ) fusion. OVERVIEW OF LITERATURE: Lumbar back pain emanating from the SIJ can be surgically treated via a percutaneous approach in the appropriately selected patient with minimal morbidity and acceptable functional outcomes. METHODS: Patients diagnosed by >2 physical examination maneuvers and subjective relief from a computed tomography-guided lidocaine-bupivacaine-steroid injection underwent SIJ fusion after failing conservative management with a combination of oral anti-inflammatory medications, physical therapy, and pelvic belt stabilization...
February 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28243168/relapsing-polychondritis-presented-with-encephalitis-followed-by-brain-atrophy
#9
Suk-Won Ahn, Moo-Seok Park, Hae-Bong Jeong, Oh-Sang Kwon, Byung-Nam Yoon, Hee Sung Kim, Sang Tae Choi
Relapsing polychondritis (RP) is a rare autoimmune disease that is characterized by inflammatory reaction of unknown etiology and destruction of cartilaginous structures. Characteristic symptoms of this disease include cartilage inflammation of the ear, nose, larynx, trachea, bronchi, joints, eyes, heart and skin. Concomitance with neurologic symptom is very rare in RP, and the detailed underlying mechanism of neurological involvement associated with RP is not fully understood. We herein described an unusual recurrent case of inflammatory brain lesions associated with RP, with attention to clinical manifestations, autoimmune disease involvement, and therapeutic effects...
February 2017: Experimental Neurobiology
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#10
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#11
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28217084/nad-attenuates-bilirubin-induced-hyperexcitation-in-the-ventral-cochlear-nucleus-by-inhibiting-excitatory-neurotransmission-and-neuronal-excitability
#12
Min Liang, Xin-Lu Yin, Lu-Yang Wang, Wei-Hai Yin, Ning-Ying Song, Hai-Bo Shi, Chun-Yan Li, Shan-Kai Yin
Nicotinamide adenine dinucleotide (NAD+) is an important molecule with extensive biological functions in various cellular processes, including protection against cell injuries. However, little is known regarding the roles of NAD+ in neuronal excitation and excitotoxicity associated with many neurodegenerative disorders and diseases. Using patch-clamp recordings, we studied its potential effects on principal neurons in the ventral cochlear nucleus (VCN), which is particularly vulnerable to bilirubin excitotoxicity...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#13
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28211292/clinical-and-functional-outcome-of-open-primary-repair-of-triangular-fibrocartilage-complex-tears-associated-with-distal-radius-fractures
#14
Faisal Johandi, Sreedharan Sechachalam
PURPOSE: We evaluate the clinical and functional outcome of open primary repair of acute TFCC tears in distal radius fracture, when there is gross intraoperative distal radioulnar joint (DRUJ) instability after fixation of the distal radius, in the absence of an ulnar styloid fracture or when the ulnar fracture fragment is too small to be fixed. METHODS: A retrospective review of our institution's distal radius fracture database over a 4-year period (January 2010 to December 2013)...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28203329/pseudotumor-cerebri-as-the-first-manifestation-of-juvenile-systemic-lupus-erythematosus
#15
Seyed-Reza Raeeskarami, Leila Shahbaznejad, Raheleh Assari, Yahya Aghighi
INTRODUCTION: Headache is a common neuropsychiatric manifestation of juvenile systemic lupus erythematous (JSLE). Pseudotumor cerebri (PTC) is an uncommon cause of headache, presenting especially in active JSLE. In this paper, we report a case of missed intractable headache that was eventually diagnosed as PTC and presented as the first manifestation of JSLE. CASE PRESENTATION: A 9-year-old girl with a history of progressive headache for four months, fever, fatigue, myalgia, arthralgia, small-joint arthritis of the hands, and recent diplopia was referred to our clinic...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28185755/the-james-a-rand-young-investigator-s-award-administrative-claims-vs-surgical-registry-capturing-outcomes-in-total-joint-arthroplasty
#16
Joseph T Patterson, David Sing, Erik N Hansen, Bobby Tay, Alan L Zhang
BACKGROUND: Administrative claims in total joint arthroplasty are used for observational studies and payment adjustments under the Comprehensive Care for Joint Replacement (CJR) legislation. Claims data have not been validated against prospective surgical outcome registries for primary total hip (THA) or knee arthroplasty (TKA). We hypothesized that significant differences in reported comorbidity and adverse event measures exist between administrative claims and prospective registry data relevant to payment adjudication under the CJR reimbursement model...
February 6, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28164059/neuropathic-knee-joint-a-complication-of-syrinx-following-spinal-anesthesia-a-rare-case-report-and-review-of-literature
#17
S Swaroop Chandra, J K Giriraj Harshavardhan, Ganesan G Ram, P V Vijayaraghavan
INTRODUCTION: Neurological complications due to spinal anesthesia are dysesthesia, paresthesia, cauda equina syndrome, and neuropathic joint. However, neurological complications are rare. We report a case of neuropathic joint of knee as a complication of syrinx following postspinal anesthesia. CASE REPORT: A 33-year-old female came with complaints of pain and instability of her left knee and left foot drop. She had developed weakness of her left lower limb following her cesarean section surgery done under spinal anesthesia...
September 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#18
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28153614/internal-maxillary-artery-preoperative-embolization-using-nbca-and-pushable-coils-for-temporomandibular-joint-ankylosis-surgery-technical-note
#19
Yazan J Alderazi, Darshan Shastri, John Wessel, Melvin Mathew, Tareq Kass-Hout, Shahid R Aziz, Charles J Prestigiacomo, Chirag D Gandhi
INTRODUCTION: Temporomandibular joint (TMJ) ankylosis causes disability through impaired digestion, mastication, speech and appearance. Surgical treatment increases range of motion with resultant functional improvement. However, substantial perioperative blood loss can occur, up to three liters, if the internal maxillary artery (IMAX) is injured as it traverses the ankylotic mass. Achieving hemostasis is difficult due to limited proximal IMAX access and poor visualization. Our aim is to investigate the technical feasibility and preliminary safety of preoperative IMAX embolization in patients undergoing TMJ ankylosis surgery...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28151078/isolation-and-characterization-of-a-novel-marine-brucella-from-a-southern-sea-otter-enhydra-lutris-nereis-california-usa
#20
Melissa A Miller, Tristan L Burgess, Erin M Dodd, Jack C Rhyan, Spencer S Jang, Barbara A Byrne, Frances M Gulland, Michael J Murray, Sharon Toy-Choutka, Patricia A Conrad, Cara L Field, Inga F Sidor, Woutrina A Smith
We characterize Brucella infection in a wild southern sea otter ( Enhydra lutris nereis) with osteolytic lesions similar to those reported in other marine mammals and humans. This otter stranded twice along the central California coast over a 1-yr period and was handled extensively at two wildlife rehabilitation facilities, undergoing multiple surgeries and months of postsurgical care. Ultimately the otter was euthanized due to severe, progressive neurologic disease. Necropsy and postmortem radiographs revealed chronic, severe osteoarthritis spanning the proximal interphalangeal joint of the left hind fifth digit...
February 2, 2017: Journal of Wildlife Diseases
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