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https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#1
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210908/updates-in-outcomes-of-stereotactic-radiation-therapy-in-acromegaly
#2
REVIEW
Monica Livia Gheorghiu
Purpose Treatment of acromegaly has undergone important progress in the last 20 years mainly due to the development of new medical options and advances in surgical techniques. Pituitary surgery is usually first-line therapy, and medical treatment is indicated for persistent disease, while radiation (RT) is often used as third-line therapy. The benefits of RT (tumor volume control and decreased hormonal secretion) are hampered by the long latency of the effect and the high risk of adverse effects. Stereotactic RT methods have been developed with the aim to provide more precise targeting of the tumor with better control of the radiation dose received by the adjacent brain structures...
February 16, 2017: Pituitary
https://www.readbyqxmd.com/read/28208057/vertical-alveolar-distraction-osteogenesis-of-the-atrophic-posterior-mandible-before-dental-implant-insertion
#3
Adi Rachmiel, Dekel Shilo, Dror Aizenbud, Omri Emodi
PURPOSE: Augmentation of deficient mandibular posterior alveolar ridges poses a great challenge because of extensive bone deficiency and the presence of the inferior alveolar nerve. This study sets its focus on vertical alveolar distraction osteogenesis (ADO) at the posterior mandible before dental implant placement. MATERIALS AND METHODS: The study included 21 sites in 18 patients with severe mandibular posterior alveolar ridge deficiency. A trapezoidal osteotomy was performed, and an extraosseous alveolar distraction device was fixed and activated after a 4-day latency period at a rate of 0...
January 21, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28207955/can-an-injured-nerve-be-used-as-a-donor-nerve-for-distal-nerve-transfer-an-experimental-study-in-rats
#4
Chieh-Han John Tzou, Chuieng-Yi Johnny Lu, Tommy Naj-Jen Chang, David Chwei-Chin Chuang
BACKGROUND: Distal nerve transfer has proven efficacy. The purpose of this study was to investigate if an injured nerve can be used as a donor nerve for transfer, and to determine the threshold of injury. MATERIALS AND METHODS: Rat's left ulnar-nerves in the axilla with different degrees of injury were selected as the donor nerves for transfer, and the musculocutaneous-nerves the target nerves for being re-innervated. Six rats each served as positive and negative controls: Group A, intact ulnar-nerve transfer; and Group E, the ulnar-nerve was cut but no transfer...
February 16, 2017: Microsurgery
https://www.readbyqxmd.com/read/28198595/free-microvascular-rotationplasty-with-nerve-repair-for-rhabdomyosarcoma-in-a-18-month-old-patient
#5
Alberto Pérez-García, Marta Salom, María Eloísa Villaverde-Doménech, Francisco Baixauli, Eduardo Simón-Sanz
Rotationplasty is a limb-sparing surgical option in lower limb malignancies. Sciatic or tibial nerve encasement has been considered an absolute contraindication to this procedure. We report a case of an 18-month-old girl with a rhabdomyosarcoma that affected the leg and popliteal fossa, with neurovascular involvement. Knee and proximal leg intercalary resection was performed followed by reconstruction with free microvascular rotationplasty and neurorraphy from tibial division of sciatic nerve to sural and tibial nerves, and from saphenous nerve to superficial peroneal nerve...
February 15, 2017: Microsurgery
https://www.readbyqxmd.com/read/28197545/active-nerve-regeneration-with-failed-target-reinnervation-drives-persistent-neuropathic-pain
#6
Wenrui Xie, Judith A Strong, Jun-Ming Zhang
Peripheral nerves can regenerate and, when injured, may cause neuropathic pain. We propose that the active regeneration process plays a pivotal role in the maintenance of neuropathic pain. In one commonly used rodent neuropathic pain model, pronounced pain behaviors follow ligation and cutting of the L5 spinal nerve. We found that the injured nerve regenerates into the sciatic nerve and functionally reinnervates target tissues: the regenerated nerve conducts electrical signals, mechanical responses, and tracers between the leg/hindpaw and axotomized sensory ganglion...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28187094/extraperitoneal-radical-trachelectomy-with-pelvic-lymphadenectomy-a-novel-fertility-preserving-option-for-early-stage-cervical-cancer-patients
#7
Seiji Mabuchi, Tadashi Kimura
OBJECTIVE: Radical trachelectomy combined with pelvic lymphadenectomy has been used to treat early stage cervical cancer patients who wish to preserve their fertility. Although vaginal, abdominal, laparoscopic, and robotic approaches have been used during this procedure, all of these approaches cause peritoneal damage, which could result in periadnexal adhesion. The aim of the present study was to introduce and discuss a novel fertility-preserving option, extraperitoneal radical trachelectomy with pelvic lymphadenectomy...
March 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28186449/efficacy-and-outcomes-of-facial-nerve-sparing-treatment-approach-to-cerebellopontine-angle-meningiomas
#8
Randy S D'Amico, Matei A Banu, Petros Petridis, Alexandra S Bercow, Hani Malone, Moshe Praver, Tony J C Wang, Steven R Isaacson, Michael B Sisti
OBJECTIVE Advanced microsurgical techniques contribute to reduced morbidity and improved surgical management of meningiomas arising within the cerebellopontine angle (CPA). However, the goal of surgery has evolved to preserve the quality of the patient's life, even if it means leaving residual tumor. Concurrently, Gamma Knife radiosurgery (GKRS) has become an acceptable and effective treatment modality for newly diagnosed, recurrent, or progressive meningiomas of the CPA. The authors review their institutional experience with CPA meningiomas treated with GKRS, surgery, or a combination of surgery and GKRS...
February 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28183576/the-benefits-of-ultrasound-guided-continuous-sensory-nerve-blockade-in-the-setting-of-burn-injury-a-case-report-of-bilateral-continuous-superficial-peroneal-nerve-blockade-in-a-patient-with-severe-sleep-apnea
#9
Vladislav Shick, Evan E Lebovitz, Emerson Conrad
The management of pain after burn injuries is a clinical challenge magnified in patients with significant comorbidities. Presently, burn pain is treated via a wide variety of modalities, including systemic pharmacotherapy and regional analgesia. Although the latter can provide effective pain control in patients with burn injuries, it is relatively underused. Furthermore, the development of ultrasound guidance has allowed for novel approaches and sparing of motor nerve blockade with preference toward sensory-specific analgesia that has not been possible previously...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28162791/endoscopic-assistance-in-retrosigmoid-transmeatal-approach-to-intracanalicular-vestibular-schwannomas-an-alternative-for-middle-fossa-approach-technical-note
#10
Grzegorz Turek, Carlos Cotúa, Rocio Evangelista Zamora, Marcos Tatagiba
BACKGROUND: Complete surgical removal of intracanalicular vestibular schwannomas with nerve VII and VIII sparing and without worsening patient's status is challenging. Also the choice of an optimal surgical technique, which is usually limited to selection between retrosigmoid transmeatal (RT) and middle fossa (MF) approach, can be a challenge. Although many previous studies documented superiority of RT to MF approach and vice versa, still no consensus has been reached regarding an optimal approach to intracanalicular vestibular schwannomas...
January 19, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28162508/-272-intraspinal-chemokine-signaling-in-the-spared-nerve-injury-model-of-neuropathic-pain
#11
B Smith, J Whang, O Butovsky, J Scholz
No abstract text is available yet for this article.
April 2016: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28157406/biomarker-molecular-and-technologic-advances-in-urologic-pathology-oncology-and-imaging
#12
Carla L Ellis, Lara R Harik, Cynthia Cohen, Adeboye O Osunkoya
Urologic pathology is evolving rapidly. Emerging trends include the expanded diagnostic utility of biomarkers and molecular testing, as well as adapting to the plethora of technical advances occurring in genitourinary oncology, surgical practice, and imaging. We illustrate those trends by highlighting our approach to the diagnostic workup of a few selected disease entities that pathologists may encounter, including newly recognized subtypes of renal cell carcinoma, pheochromocytoma, and prostate cancer, some of which harbor a distinctive chromosomal translocation, gene loss, or mutation...
February 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28150422/successful-restoration-of-fecal-continence-using-sacral-nerve-stimulation-following-chemoradiation-and-transanal-excision-of-an-anal-melanoma-with-partial-internal-anal-sphincter-resection-a-case-report
#13
Tyler Cameron Tolopka, Craig A Messick
OBJECTIVE: This case report provides evidence for our hypothesis that use of a sacral nerve stimulator may be considered in patients with fecal incontinence (FI) following chemoradiation and transanal operations in the setting of cancer including partial internal sphincter resections. MATERIALS AND METHODS: A 57-year-old female with a history of anal melanoma was treated with neoadjuvant chemoradiation followed by wide local, transanal tumor excision with partial internal anal sphincter resection that resulted in ≥2 full fecal incontinent episodes/week with gas, liquid, and solid stool leakage ≥10/day requiring pad changes...
February 1, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28137966/loss-of-m1-receptor-dependent-cholinergic-excitation-contributes-to-mpfc-deactivation-in-neuropathic-pain
#14
Daniel Radzicki, Sarah L Pollema-Mays, Antonio Sanz-Clemente, Marco Martina
: In chronic pain, the medial prefrontal cortex (mPFC) is deactivated and mPFC-dependent tasks such as attention and working memory are impaired. We investigated the mechanisms of mPFC deactivation in the rat Spared Nerve Injury (SNI) model of neuropathic pain. Patch clamp recordings in acute slices showed that 1 week after the nerve injury cholinergic modulation of layer 5 (L5) pyramidal neurons was severely impaired. In cells from sham-operated animals, focal application of ACh induced a left shift of the input/output curve and persistent firing...
January 30, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28129443/anxiolytic-effects-of-hippocampal-neurosteroids-in-normal-and-neuropathic-rats-with-spared-nerve-injury
#15
Meng Zhang, Jia Liu, Meng-Meng Zhou, Honghai Wu, Yanning Hou, Yun-Feng Li, Yuxin Yin, Lemin Zheng, Jie Cai, Fei-Fei Liao, Feng-Yu Liu, Ming Yi, You Wan
Neurosteroids are synthesized in the nervous system from cholesterol or steroidal precursors imported from peripheral sources. These compounds are important allosteric modulators of GABAA receptors, which play a vital role in modulating hippocampal functions. Chronic pain is accompanied by increased neurosteroid production in the spinal cord and thalamus. We hypothesize that hippocampal neurosteroids participate in pain or pain-associated emotions, which we tested with high-performance liquid chromatography/tandem mass spectrometry and pharmacological behavioral tests...
January 27, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28123022/tnf-%C3%AE-differentially-regulates-synaptic-plasticity-in-the-hippocampus-and-spinal-cord-by-microglia-dependent-mechanisms-after-peripheral-nerve-injury
#16
Yong Liu, Li-Jun Zhou, Jun Wang, Dai Li, Wen-Jie Ren, Jiyun Peng, Xiao Wei, Ting Xu, Wen-Jun Xin, Rui-Ping Pang, Yong-Yong Li, Zhi-Hai Qin, Madhuvika Murugan, Mark P Mattson, Long-Jun Wu, Xian-Guo Liu
: Clinical studies show that chronic pain is accompanied by memory deficits and reduction in hippocampal volume. Experimental studies show that spared nerve injury (SNI) of the sciatic nerve induces long-term potentiation (LTP) at C-fiber synapses in spinal dorsal horn, but impairs LTP in the hippocampus. The opposite changes may contribute to neuropathic pain and memory deficits, respectively. However, the cellular and molecular mechanisms underlying the functional synaptic changes are unclear...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28122393/reality-of-nerve-sparing-and-surgical-margins-in-surgeons-early-experience-with-robot-assisted-radical-prostatectomy-in-japan
#17
Katsunori Tatsugami, Kunihiko Yoshioka, Ryoichi Shiroki, Masatoshi Eto, Yasushi Yoshino, Keiichi Tozawa, Satoshi Fukasawa, Masato Fujisawa, Atsushi Takenaka, Yasutomo Nasu, Akira Kashiwagi, Momokazu Gotoh, Toshiro Terachi
OBJECTIVE: To analyze nerve sparing performance at an early stage of robot-assisted radical prostatectomy, and the correlation between the surgeons' experience and the risk of a positive surgical margin in patients treated with robot-assisted radical prostatectomy. METHODS: Patients' records from January 2009 to March 2013 were retrospectively reviewed, and 3469 patients with localized prostate cancer were identified at 45 institutions. Individual surgeon's experience with nerve sparing was recorded as the number of nerve sparing cases among total robot-assisted radical prostatectomies beginning with the first case during which nerve sparing was carried out...
January 25, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28120135/extraperitoneal-vs-transperitoneal-robot-assisted-radical-prostatectomy-in-patients-with-a-history-of-prior-inguinal-hernia-repair-with-mesh
#18
David Horovitz, Changyong Feng, Edward M Messing, Jean V Joseph
Robot-assisted radical prostatectomy (RARP) may be performed via an extraperitoneal (eRARP) or transperitoneal (tRARP) approach. There are no published studies comparing these two methods in patients with a history of prior inguinal hernia repair with mesh (IHRm), but the latter is often advocated in this setting. A retrospective review of patients who underwent RARP with prior IHRm who had a minimum follow-up of 3 months from July 1, 2003 to December 31, 2014 was undertaken. Of 2927 patients who underwent RARP for primary treatment of adenocarcinoma of the prostate, 286 patients had a clear history of IHRm...
January 24, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28119076/spinal-astrocytic-c-jun-n-terminal-kinase-jnk-activation-as-counteracting-mechanism-to-the-amitriptyline-analgesic-efficacy-in-painful-peripheral-neuropathies
#19
Maria Domenica Sanna, Carla Ghelardini, Nicoletta Galeotti
Several drugs and agents are currently used for the treatment of neuropathic pain. Among them amitriptyline, a tricyclic antidepressant drug, represent a first line treatment. Despite its well-documented clinical efficacy, amitriptyline is ineffective in some animal models of neuropathic pain. The aim of this study was to investigate into amitriptyline poor efficacy in neuropathic pain and to determine the role of c-Jun N-terminal kinase (JNK) activation as counteracting mechanism to the analgesic effects of this drug...
January 21, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28112137/orbital-melanoma-with-calcification-a-diagnostic-dilemma
#20
Sukhdeep Bains, Usha Kim, R Shanti
Primary orbital melanoma is rare and has varied initial presentation. A 28-year-old female presented with proptosis and decreased vision in the left eye. Computed tomography scan showed an orbital mass with contrast enhancement and calcification around the optic nerve leading to a diagnosis of meningioma. The patient chose to be on observation. Loss of vision with an increase in proptosis was seen at 6 months follow-up. On surgical exploration, a well-defined pigmented mass was seen encasing the optic nerve...
December 2016: Indian Journal of Ophthalmology
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