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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/28211198/safety-of-antifibrinolytics-in-cranial-vault-reconstructive-surgery-a-report-from-the-pediatric-craniofacial-collaborative-group
#2
Susan M Goobie, Franklyn P Cladis, Chris D Glover, Henry Huang, Srijaya K Reddy, Allison M Fernandez, David Zurakowski, Paul A Stricker
BACKGROUND: Antifibrinolytic therapy significantly decreases blood loss and transfusion in pediatric cranial vault reconstructive surgery; however, concern regarding the side effects profile limits clinical use. AIMS: The aim was to utilize the Pediatric Craniofacial Surgery Perioperative Registry database to identify the safety profile of antifibrinolytic therapy for cranial vault reconstructive surgery by reporting the incidence of adverse events as they relate to exposure to tranexamic acid and aminocaproic acid compared to no exposure to antifibrinolytics...
February 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28210908/updates-in-outcomes-of-stereotactic-radiation-therapy-in-acromegaly
#3
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/28210639/an-interesting-case-of-tolosa-hunt-syndrome-in-a-young-male
#4
Ghulam Murtaza, Nicholas Konowitz, Hannah Lu, Anadil Faqah, Aneesh Kuruvilla
Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210514/hemorrhagic-colloid-cyst-presenting-with-acute-hydrocephaly
#5
Reza Akhavan, Behrouz Zandi, Masoud Pezeshki-Rad, Donya Farrokh, Bita Abbasi
Colloid cysts are benign slow-growing cystic lesions located on the roof of the third ventricle that usually present with symptoms related to gradual rise of intracranial pressure. They mostly remain asymptomatic and sometimes grow progressively and cause diverse symptoms associated with increased intracranial pressure such as headache, diplopia, and sixth cranial nerve palsy. Here we report a 47-year-old female who presented to the emergency department with acute severe headache and nausea/vomiting. On MRI examination acute hydrocephaly due to hemorrhagic colloid cyst was detected...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28210410/a-case-of-glenoid-fossa-fracture-progressive-ankylosis-total-joint-reconstruction-with-alloplastic-prosthesis-to-normalized-function-including-evaluation-with-f18-pet-ct-a-four-year-follow-up
#6
Björn Lindell, Andreas Thor
Temporomandibular joint replacement (TJR) with alloplastic prosthesis has shown promising long-term results in end stage joint disorders. We present a case of young woman with painful ankylosis that where reconstructed with TJR, due to a complex mandibular fracture with dislocation of the left condyle into the middle cranial fossa two years earlier. At the age of 18 the subject underwent a total joint replacement with custom-made alloplastic TMJ prosthesis. To determine the bone response and remodeling activity around the prosthesis, a F18 PET/CT-scan was used...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28209740/quantitative-mri-volumetry-diffusivity-cerebrovascular-flow-and-cranial-hydrodynamics-during-head-down-tilt-and-hypercapnia-the-spacecot-study
#7
Larry Allen Kramer, Khader M Hasan, Ashot E Sargsyan, Karina Marshall-Goebel, Jörn Rittweger, Dorit Donoviel, Saki Higashi, Benson Mwangi, Darius A Gerlach, Eric M Bershad
PURPOSE: In order to improve the pathophysiologic understanding of visual changes observed in astronauts, we aimed to use quantitative MRI to measure anatomic and physiologic responses during a ground-based spaceflight analogue (head down tilt, HDT) combined with increased ambient carbon dioxide (CO2). METHODS: Six healthy, male subjects participated in the double-blinded, randomized cross-over design study with two conditions: 26.5 h of -12° HDT with ambient air and with 0...
February 16, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28209311/mri-findings-of-optic-pathway-involvement-in-miller-fisher-syndrome-in-3-pediatric-patients-and-a-review-of-the-literature
#8
Ajay Malhotra, Mia Zhang, Xiao Wu, Shanu Jindal, David Durand, Naila Makhani
BACKGROUND: Miller Fisher syndrome (MFS) is a rare demyelinating condition which may have involvement of cranial nerves. There are a few case reports of optic pathway involvement in children. We describe 3 patients with optic pathway enhancement in pediatric patients with MFS. CASE SERIES: We retrospectively reviewed brain imaging findings in 17 pediatric patients with of Guillain-Barré syndrome (GBS) meeting Brighton criteria who had brain MRIs performed during their acute illness...
February 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28209309/cluster-headache-and-macroprolactinoma-case-report-of-a-rare-but-potential-important-causality
#9
Lukas Andereggen, Marie-Luise Mono, Frauke Kellner-Weldon, Emanuel Christ
While headache is not an uncommon symptom in patients suffering from pituitary adenomas, cluster headache (CH) has rarely been reported in such cases. Headache associated with hyperprolactinemia has been reported to be responsive to dopamine agonists (DA agonists) in many patients. We report on a patient with refractory CH secondary to a macroprolactinoma who showed immediate and permanent clinical and radiologic recovery following medical treatment with DA agonists. Measurement of prolactin levels in addition to cranial magnetic resonance imaging might be considered in patients with refractory CH, until the significance of this potential causality becomes clearer...
February 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28209177/is-posture-related-craniospinal-compliance-shift-caused-by-jugular-vein-collapse-a-theoretical-analysis
#10
Manuel Gehlen, Vartan Kurtcuoglu, Marianne Schmid Daners
BACKGROUND: Postural changes are related to changes in cerebrospinal fluid (CSF) dynamics. While sitting up leads to a decrease in cranial CSF pressure, it also causes shifts in the craniospinal CSF volume and compliance distribution. We hypothesized that jugular vein collapse in upright posture is a major contributor to these shifts in CSF volume and compliance. METHODS: To test this hypothesis, we implemented a mathematical lumped-parameter model of the CSF system and the relevant parts of the cardiovascular system...
February 16, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28208975/solid-cystic-hypoglossal-nerve-schwannoma-with-fluid-fluid-level-a-rare-case-report
#11
Kulamani Sahoo, Pramod Ramchand Shaha, Rahul Khetawat, Mohd Abbas Ilyas, Gaurav Rajendra Khairnar
Schwannomas (neurinoma, neurilemmoma) are benign slow-growing encapsulated tumours originating from well-differentiated myelin-producing Schwann cells or nerve fiber sheet cells at the glial-Schwann cell junction. Hypoglossal nerve schwannoma mostly develops in the intracranial and extra-cranial segment or in both intracranial and extra-cranial segment forming a dumbbell shape tumour. The peripheral hypoglossal schwannomas are very rare. We present a case of right hypoglossal nerve schwannoma in a 46-year-old female who presented with headache and neck pain since 2 weeks with deviation of tongue to right side since 1 week...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208895/extracalvarial-meningioma-in-the-parapharyngeal-space-presentation-diagnosis-and-management
#12
Sirshak Dutta, Neeraj Aggarwal, Mainak Dutta, Saurav Kumar Ghosh, Ramanuj Sinha
Extracalvarial meningioma in the cervical region presenting as a parapharyngeal mass lesion is seldom encountered in clinical practice and poses great challenge in its diagnosis and surgical management. In this report, we present a case of extracranial meningioma in a middle-aged person who presented with a large, gradually progressing cervical swelling with multiple cranial nerve pareses. The difficulties in diagnosis and surgical management of this unusual neoplasm in the setting of partial encasement and thrombosis of the internal jugular vein have been discussed, along with the computed tomography and magnetic resonance imaging providing details of its extent and character...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207658/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-degenerative-cervical-myelopathy
#13
Maryse Fortin, Octavian Dobrescu, Matthew Courtemanche, Carolyn J Sparrey, Carlo Santaguida, Michael G Fehlings, Michael H Weber
STUDY DESIGN: A cross-sectional study. OBJECTIVE: The aim of this study was to assess fatty infiltration and asymmetry of the multifidus (MF), semispinalis cervicis (SCer), semispinalis capitis (SCap), and splenius capitis (SPL) muscles in patients with degenerative cervical myelopathy (DCM), and evaluate their correlations with clinical symptoms and functional scores. SUMMARY OF BACKGROUND DATA: Cervical muscle alterations have been reported in patients with chronic neck pain, but the assessment of cervical muscle morphology has been overlooked in patients with DCM...
February 15, 2017: Spine
https://www.readbyqxmd.com/read/28207625/a-three-dimensional-geometric-morphometric-study-to-quantify-temporal-bone-growth-and-its-consequences-for-the-success-of-implanting-bone-anchored-hearing-devices
#14
Sebastian Schilde, Stefan K Plontke, Torsten Rahne
OBJECTIVE: A computed tomography (CT)-based morphological-investigation to describe temporal bone growth and to devise a predictive test of the likely success of Bonebridge implantation into the growing mastoid region of the temporal bone in young patients. STUDY DESIGN: Retrospective cross-sectional study. SETTING: University Hospital Halle (Saale), Germany. PATIENTS: Two cohorts participated. This first, of patients aged less than 21 years, comprised 42 men, and 33 women patients...
February 15, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28207463/implantation-of-thickened-artificial-bone-for-reduction-of-dead-space-and-prevention-of-infection-between-implant-and-dura-in-secondary-reconstruction-of-the-skull
#15
Mine Ozaki, Keigo Narita, Masakazu Kurita, Yuki Iwashina, Akihiko Takushima, Kiyonori Harii
For the treatment of skull defect compensation after neurosurgery, a customized artificial bone is often employed owing to its toughness and the relative ease of producing cosmetically good result. However, implants are vulnerable to infection and removal of implant is sometimes necessary. Several other treatment options such as autologous bone graft or free flap are likely to be considered for the secondary reconstruction to avoid reinfection; however, reimplantation of artificial bone is beneficial for the patients, being not concerned with donor site morbidity...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28207317/effects-of-sensor-position-on-kinematic-data-obtained-with-an-inertial-sensor-system-during-gait-analysis-of-trotting-horses
#16
Valerie J Moorman, David D Frisbie, Christopher E Kawcak, C Wayne McIlwraith
OBJECTIVE To determine the effects of altering location of right forelimb and pelvic sensors on kinematic data obtained with a commonly used inertial sensor system during gait analysis of trotting horses. DESIGN Experimental study. ANIMALS 12 horses with mild to moderate lameness of at least 1 hind limb, with or without lameness of the forelimbs. PROCEDURES All horses were examined while trotting on a high-speed treadmill. The right forelimb sensor was tested at 3 anatomic locations in random order: dorsal midline and 2 cm medial and lateral to that midline...
March 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28205638/effects-of-mir-146a-on-the-osteogenesis-of-adipose-derived-mesenchymal-stem-cells-and-bone-regeneration
#17
Qing Xie, Wei Wei, Jing Ruan, Yi Ding, Ai Zhuang, Xiaoping Bi, Hao Sun, Ping Gu, Zi Wang, Xianqun Fan
Increasing evidence has indicated that bone morphogenetic protein 2 (BMP2) coordinates with microRNAs (miRNAs) to form intracellular networks regulating mesenchymal stem cells (MSCs) osteogenesis. This study aimed to identify specific miRNAs in rat adipose-derived mesenchymal stem cells (ADSCs) during BMP2-induced osteogenesis, we selected the most significantly down-regulated miRNA, miR-146a, to systematically investigate its role in regulating osteogenesis and bone regeneration. Overexpressing miR-146a notably repressed ADSC osteogenesis, whereas knocking down miR-146a greatly promoted this process...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28203388/on-the-development-of-the-chondrocranium-and-the-histological-anatomy-of-the-head-in-perinatal-stages-of-marsupial-mammals
#18
REVIEW
Marcelo R Sánchez-Villagra, Analía M Forasiepi
An overview of the literature on the chondrocranium of marsupial mammals reveals a relative conservatism in shape and structures. We document the histological cranial anatomy of individuals representing Monodelphis domestica, Dromiciops gliroides, Perameles sp. and Macropus eugenii. The marsupial chondrocranium is generally characterized by the great breadth of the lamina basalis, absence of pila metoptica and large otic capsules. Its most anterior portion (cupula nasi anterior) is robust, and anterior to it there are well-developed tactile sensory structures, functionally important in the neonate...
2017: Zoological Letters
https://www.readbyqxmd.com/read/28203373/a-silent-skull-metastatic-follicular-thyroid-carcinoma-mimicking-as-a-benign-scalp-tumor-in-a-pregnant-woman
#19
Tsung-Chun Huang, Yu-Kai Cheng, Tsung-Wei Chen, Yung-Chang Hsu, En-Wei Liu, Hsin-Han Chen
: Thyroid cancer with cranial metastasis in a pregnant woman is very rare. In the literature, most cases are diagnosed early from neurogenic signs or symptomatic thyroid gland. Pregnancy also contributes to a hesitation toward early surgical and medical treatments. We reported a scalp tumor in a physically healthy 37-year-old pregnant female with a follicular thyroid carcinoma (FTC) with lung, bone and cranial metastasis in initial presentation. Silent neurogenic and physical examinations make an early diagnosis very challenging...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28203372/diagnostic-challenges-and-management-of-a-patient-with-acromegaly-due-to-ectopic-growth-hormone-releasing-hormone-secretion-from-a-bronchial-carcinoid-tumour
#20
Nikolaos Kyriakakis, Jacqueline Trouillas, Mary N Dang, Julie Lynch, Paul Belchetz, Márta Korbonits, Robert D Murray
: A male patient presented at the age of 30 with classic clinical features of acromegaly and was found to have elevated growth hormone levels, not suppressing during an oral glucose tolerance test. His acromegaly was originally considered to be of pituitary origin, based on a CT scan, which was interpreted as showing a pituitary macroadenoma. Despite two trans-sphenoidal surgeries, cranial radiotherapy and periods of treatment with bromocriptine and octreotide, his acromegaly remained active clinically and biochemically...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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