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https://www.readbyqxmd.com/read/28332470/adult-onset-demyelinating-neuropathy-associated-with-fbln5-gene-mutation
#1
Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Xin Shi, Wei Liang, Yun Yuan
Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother...
March 23, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28328849/protrusion-of-a-rod-into-the-spinal-canal-10-years-after-segmental-lumbar-spine-surgery
#2
Siyi Cai, Xiangyi Kong, Chengrui Yan, Yipeng Wang, Xueshuai Wan, Jialu Zhang, Guixing Qiu, Keyi Yu
The objective of this article is to report an unusual case of a spinal rod that protruded into the spinal canal after lumbar spine surgery.Only 4 cases of spinal rod migration with protrusion into the spinal canal have been reported. This is the first report of a case involving the use of posterior low lumbar segmental instrumentation with a screw-rod system. The left side of the rod gradually migrated and finally protruded into the canal and compressed the cord.A 60-year-old woman presented with pain and numbness of the posterior aspect of the left leg after a long-distance walk...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328842/three-dimensional-printing-and-computer-navigation-assisted-hemipelvectomy-for-en-bloc-resection-of-osteochondroma-a-case-report
#3
Yaqing Zhang, Lianjiang Wen, Jun Zhang, Guoliang Yan, Yue Zhou, Bo Huang
RATIONALE: Three-dimensional (3D) printed templates can be designed to match an individual's anatomy, allowing surgeons to refine preoperative planning. In addition, the use of computer navigation (NAV) is gaining popularity to improve surgical accuracy in the resection of pelvic tumors. However, its use in combination with 3D printing to assist complex pelvic tumor resection has not been reported. PATIENT CONCERNS: A 36-year-old man presented with left-sided pelvic pain and a fast-growing mass...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328817/retrospective-analysis-of-the-overt-proteinuria-diabetic-kidney-disease-in-the-treatment-of-modified-shenzhuo-formula-for-2-years
#4
Hongdong Chen, Jing Guo, Xuemin Zhao, Xinhui He, Zhongchen He, Linhua Zhao, Xiaolin Tong
The objective of the present study was to evaluate the 2-year effectiveness of modified Shenzhuo formula in the treatment of overt proteinuria diabetic kidney disease (DKD).Patients diagnosed with type 2 DKD in the clinical research database of Prof Xiaolin Tong (>20,000 data points) with >1-year follow-up were screened for this study. Patients' demographic data, chief complaint, present illness, past history, allergic history, personal history, family history, test results, tongue images, pulse information, and prescription information at 1, 1...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28325554/inscuteable-maintains-type-i-neuroblast-lineage-identity-via-numb-notch-signaling-in-the-drosophila-larval-brain
#5
Huanping An, Wanzhong Ge, Yongmei Xi, Xiaohang Yang
In the Drosophila larval brain, type I and type II neuroblasts (NBs) undergo a series of asymmetric divisions which give rise to distinct progeny lineages. The intermediate neural progenitors (INPs) exist only in type II NB lineages. In this study, we reveal a novel function of Inscuteable (Insc) that acts to maintain type I NB lineage identity. In insc type I NB clones of mosaic analyses with a repressible cell marker (MARCM), the formation of extra Deadpan (Dpn)(+) NB-like and GMC-like cells is observed. The lack of Insc leads to the defective localization and segregation of Numb during asymmetric cell division...
March 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28320586/patients-experience-in-the-early-recovery-phase-after-removal-of-intraoral-squamous-cell-carcinoma-with-carbon-dioxide-laser
#6
M Gilmartin, T Ali, S N Rogers
Laser excision of oral cancer is well established. The aim of this cross-sectional survey was to ask patients about their main symptoms and the severity of them during the first postoperative weeks. We devised a short questionnaire in collaboration with patients, and did a cross-sectional survey of 50 consecutive patients who had laser excision of T1 and T2 oral cancers over a two-year period. The response rate was 76% (38/50). Twenty patients reported that eating was "quite a bit" or "very much of a problem" and 13 reported similar for pain...
March 17, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28303070/discrimination-between-spinal-extradural-meningioma-and-both-intra-and-extradural-meningioma-case-report
#7
Kenyu Ito, Shiro Imagama, Kei Ando, Kazuyoshi Kobayashi, Tetsuro Hida, Mikito Tsushima, Akiyuki Matsumoto, Masayoshi Morozumi, Satoshi Tanaka, Yoshihiro Nishida, Naoki Ishiguro
Meningiomas are common spinal tumor and mostly located at intradura. Recurrence rate after surgery for extradural meningioma was higher than intradural meningioma. A patient with intra and extradural spinal meningioma was treated and discussed its features and clinical management. A 41-year-old woman noted numbness of bilateral legs, gait disturbance, and mild bladder disturbance for over the two-month period. Magnetic resonance imaging revealed an epidural mass at T8-9 involving the dura mater from the left side...
February 2017: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28298340/pre-clinical-validation-of-a-selective-anti-cancer-stem-cell-therapy-for-numb-deficient-human-breast-cancers
#8
Daniela Tosoni, Sarah Pambianco, Blanche Ekalle Soppo, Silvia Zecchini, Giovanni Bertalot, Giancarlo Pruneri, Giuseppe Viale, Pier Paolo Di Fiore, Salvatore Pece
The cell fate determinant Numb is frequently downregulated in human breast cancers (BCs), resulting in p53 inactivation and an aggressive disease course. In the mouse mammary gland, Numb/p53 downregulation leads to aberrant tissue morphogenesis, expansion of the stem cell compartment, and emergence of cancer stem cells (CSCs). Strikingly, CSC phenotypes in a Numb-knockout mouse model can be reverted by Numb/p53 restoration. Thus, targeting Numb/p53 dysfunction in Numb-deficient human BCs could represent a novel anti-CSC therapy...
March 15, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28298043/ct-guided-selective-percutaneous-radiofrequency-thermocoagulation-via-the-foramen-rotundum-for-isolated-maxillary-nerve-idiopathic-trigeminal-neuralgia
#9
Quan Wan, Daying Zhang, Xintian Cao, Yong Zhang, Mengye Zhu, Wei Zuo
OBJECTIVE Although CT-guided selective percutaneous radiofrequency thermocoagulation (PRFT) via the foramen rotundum (FR) has been used in the clinic as a novel successful treatment for isolated, second division (maxillary nerve [V2]), idiopathic trigeminal neuralgia (ITN), there is only very limited related literature published to date. This report aims to provide more detail for physicians about this technique. METHODS Between March 2013 and April 2014, 20 patients with isolated V2 ITN refractory to or intolerant of drug treatment were treated by CT-guided selective PRFT via the FR at the First Affiliated Hospital of Nanchang University...
March 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28298016/a-proposed-plan-for-personalized-radiosurgery-in-patients-with-trigeminal-neuralgia
#10
Seyed H Mousavi, Ajay Niranjan, Berkcan Akpinar, Edward A Monaco, Jonathan Cohen, Jagdish Bhatnagar, Yue-Fang Chang, Hideyuki Kano, Sakibul Huq, John C Flickinger, L Dade Lunsford
OBJECTIVE During the last 25 years, more than 100,000 patients worldwide with trigeminal neuralgia (TN) have undergone stereotactic radiosurgery (SRS) with a standard dose of radiation. However, the radiobiological effect of radiation is determined by the amount of energy delivered to the tissue (integral dose [ID] = mean dose × target volume) and is directly associated with the nerve volume. Although the trigeminal nerve volume varies among patients with TN, the clinical impact of this variation in delivered energy is unknown...
February 17, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28297693/-a-case-of-central-type-disc-herniation-at-the-c7-t1-level-presenting-with-myelopathy
#11
Masatoshi Yunoki, Takahiro Kanda, Kenta Suzuki, Atsuhito Uneda, Koji Hirashita, Kimihiro Yoshino
In contrast to other levels of upper disc spaces, the Luschka joints are usually absent at the C7/T1 disc space. Therefore, it has been reported that the C7/T1 disc herniation is prone to herniate laterally rather than centrally. In this manuscript, we describe an extremely rare central-type disc herniation at the C7/T1 level presented with myelopathy. A 76-year-old man presented with a 20-day history of progressive gait disturbance. Physical examination revealed bilateral lower extremity hyperreflexia and mild foot numbness with no upper extremity motor weakness or sensory disturbance...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28296753/a-rare-thoracic-intraspinal-schwannoma-in-twin-pregnancy-with-aggravated-clinical-presence-a-case-report-following-care
#12
Ruiqi Chen, Anqi Xiao, Lu Xing, Chao You, Jiagang Liu
INTRODUCTION: This is the first case report about a thoracic intraspinal schwannoma in twin pregnancy with aggressive clinical presentation. CLINICAL PRESENCE AND DIAGNOSES: A 21-year-old woman presented with a 2-month history of back pain and slight lower extremity numbness and weakness, and her symptoms were misdiagnosed as normal reactions to pregnancy until she progressed to complete paralysis and incontinence within 2 weeks. She was then confirmed to have thoracic intraspinal schwannoma through MRI...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295338/modified-transnasal-endoscopic-medial-maxillectomy-through-prelacrimal-duct-approach
#13
Motohiko Suzuki, Yoshihisa Nakamura, Makoto Yokota, Shinya Ozaki, Shingo Murakami
OBJECTIVE: We previously reported a modified endoscopic medial maxillectomy (modified transnasal endoscopic medial maxillectomy through prelacrimal duct approach [MTEMMPDA]) to resect inverted papilloma (IP), for which the inferior turbinate (IT) and nasolacrimal duct (ND) can be preserved. MTEMMPDA is a safe and effective method to obtain wide, straight access to the maxillary sinus (MS). However, there are few reported cases of patients who underwent MTEMMPDA, and even fewer of patients who underwent partial osteotomy of the apertura piriformis and the anterior wall of the MS...
March 14, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28293517/all-seasons-vertical-augmentation-mastopexy-a-simple-algorithm-clinical-experience-and-patient-reported-outcomes
#14
Eric Swanson
BACKGROUND: The safety of augmentation mastopexy has been questioned. Staging has been recommended for women deemed to be at higher risk, such as women with greater degrees of ptosis. Most existing studies evaluate women treated with multiple methods, including the traditional Wise pattern. This retrospective study specifically evaluates vertical augmentation mastopexy. A simple algorithm is introduced. METHODS: From 2002 to 2016, 252 women underwent consecutive vertical augmentation mastopexies performed by the author, with no staged surgery...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28293459/refractory-optic-perineuritis-due-to-granulomatosis-with-polyangiitis-successfully-treated-with-methotrexate-and-mycophenolate-mofetil-combination-therapy
#15
Yoshitaka Kimura, Kurumi Asako, Hirotoshi Kikuchi, Hajime Kono
Optic perineuritis is an uncommon inflammatory disorder of the optic sheath that causes visual loss or eye pain. There are few case reports of optic perineuritis associated with granulomatosis with polyangiitis. Herein we report the case of a 37-year-old male with granulomatosis with polyangiitis and who presented with headache, blurred vision in the right eye, diplopia, and numbness in the right forehead. Brain magnetic resonance images (MRI) findings revealed hypertrophic pachymeningitis and refractory optic perineuritis...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28291605/evaluation-of-acute-and-chronic-pain-outcomes-after-robotic-video-assisted-thoracoscopic-surgery-or-open-anatomic-pulmonary-resection
#16
Sebastian T Kwon, Lili Zhao, Rishindra M Reddy, Andrew C Chang, Mark B Orringer, Chad M Brummett, Jules Lin
OBJECTIVES: Although robotic-assisted thoracic surgery (RATS) provides improved dexterity, the effect of RATS on pain compared with video-assisted thoracoscopic surgery (VATS) or open lobectomy is poorly understood. This study evaluated acute and chronic pain following RATS, VATS, and open anatomic pulmonary resection. METHODS: A retrospective review of 498 patients (502 procedures) who underwent RATS (74), VATS (227), and open (201) anatomic pulmonary resection including lobectomy and segmentectomy from 2010 to 2014 was performed to identify factors related to acute and chronic pain...
February 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28286483/long-term-effects-pathophysiological-mechanisms-and-risk-factors-of-chemotherapy-induced-peripheral-neuropathies-a-comprehensive-literature-review
#17
REVIEW
Nicolas Kerckhove, Aurore Collin, Sakahlé Condé, Carine Chaleteix, Denis Pezet, David Balayssac
Neurotoxic anticancer drugs, such as platinum-based anticancer drugs, taxanes, vinca alkaloids, and proteasome/angiogenesis inhibitors are responsible for chemotherapy-induced peripheral neuropathy (CIPN). The health consequences of CIPN remain worrying as it is associated with several comorbidities and affects a specific population of patients already impacted by cancer, a strong driver for declines in older adults. The purpose of this review is to present a comprehensive overview of the long-term effects of CIPN in cancer patients and survivors...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28283891/the-potential-role-for-early-biomarker-testing-as-part-of-a-modern-multidisciplinary-approach-to-sj%C3%A3-gren-s-syndrome-diagnosis
#18
REVIEW
Kenneth A Beckman, Jodi Luchs, Mark S Milner, Julian L Ambrus
Sjögren's syndrome (SS) is a chronic and progressive multisystem autoimmune disease typically managed by rheumatologists. Diagnostic delays are common, due in large part to the non-specific and variable nature of SS symptoms and the slow progression of disease. The hallmark characteristics of SS are dry eye and dry mouth, but there are a broad range of other possible symptoms such as joint and muscle pain, skin rashes, chronic dry cough, vaginal dryness, extremity numbness or tingling, and disabling fatigue...
March 10, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28283875/prevalence-and-correlates-of-patient-reported-symptoms-and-comorbidities-in-breast-cancer-survivors-at-a-tertiary-center
#19
Moaath Mustafa Ali, Machelle Moeller, Lisa Rybicki, Halle C F Moore
PURPOSE: Survivorship care is an essential component in the management of cancer patients. Optimal delivery of survivorship care requires an understanding of patient concerns and factors associated with treatment-related symptoms and comorbidities. METHODS: We conducted a retrospective cohort study evaluating 34 patient-reported conditions (symptoms and comorbidities) as well as self-reported health habits of stage 0-III breast cancer patients using a questionnaire completed at the time of the initial survivorship visit (SV)...
March 10, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/28281936/combat-experiences-and-their-relationship-to-post-traumatic-stress-disorder-symptom-clusters-in-uk-military-personnel-deployed-to-afghanistan
#20
Carlos Osório, Norman Jones, Edgar Jones, Ian Robbins, Simon Wessely, Neil Greenberg
The association of post-traumatic stress disorder (PTSD) symptom clusters with combat and other operational experiences among United Kingdom Armed Forces (UK AF) personnel who deployed to Afghanistan in 2009 were examined. Previous studies suggest that the risk of developing PTSD rises as combat exposure levels increase. To date, no UK research has investigated how specific classes of combat and operational experiences relate to PTSD symptom clusters. The current study was a secondary analysis of data derived from a two-arm cluster, randomized-controlled trial of a postdeployment operational stress-reduction intervention in deployed UK AF personnel...
March 10, 2017: Behavioral Medicine
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