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https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#1
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29157682/outcomes-of-thoracic-endovascular-aortic-repair-for-chronic-aortic-dissections
#2
Allan M Conway, Khalil Qato, Laurie R Mondry, Guillaume J Stoffels, Gary Giangola, Alfio Carroccio
BACKGROUND: Open surgical repair remains the "gold standard" treatment for chronic type B aortic dissection (cTBD) with aneurysm. Thoracic endovascular aortic repair (TEVAR) has gained popularity in recent years for the treatment of thoracic aortic diseases, including cTBD. We assessed the effectiveness of TEVAR in the treatment of cTBD using the Vascular Quality Initiative (VQI) database. METHODS: The VQI registry identified 4713 patients treated with TEVAR from July 2010 to November 2015, including 125 repairs for cTBD...
November 17, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29156906/the-development-of-neurology-palliative-care-service-for-motor-neuron-disease-mnd-patients-hong-kong-experience
#3
Hon Wai Benjamin Cheng, Wai Tsan Tracy Chen, Chun Kwok Angus Chu, Savio Lee, Joo Shium Lee, Yeuk Fai Hong, Yuen Kwan Judy Chung
BACKGROUND: Motor neuron disease (MND) is a neurodegenerative disease characterized by loss of motor neurons in the spinal cord, brainstem and motor cortex. Clinically it is manifested as progressive decline in physical, respiratory, swallowing and communication function and ultimately death. Traditional model of care was fragmented and did not match with patients and carers multi-facet needs. METHODS: A special workgroup for MND patients that includes neurologist, respiratory physician, rehabilitation specialist and palliative care (PC) physician was formed in Hong Kong since year 2013...
September 15, 2017: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29148391/outbreaks-of-neuroinvasive-astrovirus-associated-with-encephalomyelitis-weakness-and-paralysis-among-weaned-pigs-hungary
#4
Ákos Boros, Mihály Albert, Péter Pankovics, Hunor Bíró, Patricia A Pesavento, Tung Gia Phan, Eric Delwart, Gábor Reuter
A large, highly prolific swine farm in Hungary had a 2-year history of neurologic disease among newly weaned (25- to 35-day-old) pigs, with clinical signs of posterior paraplegia and a high mortality rate. Affected pigs that were necropsied had encephalomyelitis and neural necrosis. Porcine astrovirus type 3 was identified by reverse transcription PCR and in situ hybridization in brain and spinal cord samples in 6 animals from this farm. Among tissues tested by quantitative RT-PCR, the highest viral loads were detected in brain stem and spinal cord...
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29138652/trauma-a-major-cause-of-death-among-surgical-inpatients-of-a-nigerian-tertiary-hospital
#5
Onyeanunam Ngozi Ekeke, Kelechi Emmanuel Okonta
Introduction: Trauma presents a significant global health burden. Death resulting from trauma remains high in low income countries despite a steady decrease in developed countries. Analysis of the pattern of death will enable intervention to reduce these deaths from trauma in developing countries. This study aims to present the pattern of trauma-related deaths in the surgical wards of University of Port Harcourt Teaching Hospital (UPTH). Methods: This was a retrospective study of all patients who died from trauma during admission into the surgical wards of UPTH from 2007 to 2012...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/29138486/the-impact-of-a-specialized-spinal-cord-injury-center-as-compared-with-non-specialized-centers-on-the-acute-respiratory-management-of-patients-with-complete-tetraplegia-an-observational-study
#6
Andréane Richard-Denis, Debbie Feldman, Cynthia Thompson, Martin Albert, Jean-Marc Mac-Thiong
STUDY DESIGN: Retrospective cohort study. OBJECTIVES: To compare the proportion of tracheostomy placement and duration of mechanical ventilation (MV) in patients with a complete cervical spinal cord injury (SCI) that were managed early or lately in a specialized acute SCI-center. The second objective was to determine the impact of the timing of admission to the SCI-center on the MV support duration. SETTING: A single Level-1 trauma center specialized in SCI care in Quebec (Canada)...
November 15, 2017: Spinal Cord
https://www.readbyqxmd.com/read/29123931/rapid-ascending-sensorimotor-paralysis-hearing-loss-and-fatal-arrhythmia-in-a-multimorbid-patient-due-to-an-accidental-overdose-of-fluoxetine
#7
Matthew Herrmann, Prissilla Xu, Antonio Liu
Background: Common side effects of selective serotonin reuptake inhibitors (SSRIs) include tachycardia, drowsiness, tremor, nausea, and vomiting. Although SSRIs have less toxic side effects compared to more traditional antidepressants, serious and life threatening cases of SSRI overdose have been reported. We describe a 24-year-old multimorbid female who presented to the emergency department with rapid onset ascending sensorimotor paralysis, complicated by respiratory and cardiac arrest, found to have fatal levels of fluoxetine by toxicological analysis, not taken in a suicidal act...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29122497/further-delineation-of-the-phenotypic-spectrum-of%C3%A2-isca2-defect-a-report-of-ten-new-cases
#8
Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif A Al-Shahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B Almutairi, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Mohammed Al-Owain, Robert W Taylor, Namik Kaya
Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy. Recently, a founder mutation, c.229G > A, p.Gly77Ser in ISCA2 was reported to cause Multiple Mitochondrial Dysfunction Syndrome type 4...
October 16, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29107737/respiratory-functional-and-motor-control-deficits-in-children-with-spinal-cord-injury
#9
Goutam Singh, Andrea L Behrman, Sevda C Aslan, Shelley Trimble, Alexander V Ovechkin
Children with spinal cord injury (SCI) are at high risk for developing complications due to respiratory motor control deficits. However, underlying mechanisms of these abnormalities with respect to age, development, and injury characteristics are unclear. To evaluate the effect of SCI and age on respiratory motor control in children with SCI, we compared pulmonary function and respiratory motor control outcome measures in healthy typically developing (TD) children to age-matched children with chronic SCI. We hypothesized that the deficits in respiratory functional performance in children with SCI are due to the abnormal and age-dependent respiratory muscle activation patterns...
January 2018: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29104832/belly-dancer-s-dyskinesia-a-glimpse-of-a-rare-phenomenon
#10
Ashutosh Gupta, Suman Kushwaha
Belly dancer's dyskinesia (BDD) is an extremely rare manifestation consisting of involuntary and repetitive rhythmic movements of the abdominal wall. These movements cannot be voluntarily suppressed but may be influenced by respiratory maneuvers. Investigations such as spinal cord and abdominal imaging usually fail to reveal any local abnormalities to explain the movement disorder. A 23-year-old male presented with sudden onset of undulating movements of the abdominal wall for the last two months after he took domperidone...
July 11, 2017: Curēus
https://www.readbyqxmd.com/read/29097555/lupus-myelopathy
#11
Dominika D Raciborska, Alastair John Noyce, Dev Pyne, Benjamin P Turner
Although neurological manifestations of systemic lupus erythematosus (SLE) are well recognised, myelopathy complicating SLE is rare. A 35-year-old woman presented with non-specific symptoms and a respiratory tract infection but had serological evidence of SLE. She subsequently deteriorated rapidly, developing a catastrophic spinal cord syndrome. Her initial MRI was normal; but after 1 month, her encephalopathy having progressed, repeat imaging showed characteristic myelitic changes. She responded only slowly to a combination of cyclophosphamide and corticosteroids...
November 2, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29081395/intradural-extramedullary-bronchogenic-cyst-clinical-and-radiological-characteristics-surgical-outcomes-and-literature-review
#12
Jian-Cong Weng, Jun-Peng Ma, Shu-Yu Hao, Liang Wang, Zhen Wu, Li-Wei Zhang, Da Li, Jun-Ting Zhang
OBJECTIVE: An intradural extramedullary bronchogenic cyst (IEBC) is a congenital malformation and an extremely rare type of endodermal cyst. This study aims to report the clinical and radiological characteristics and surgical outcomes of IEBCs and to review the available literature. METHODS: The medical records of 6 patients (3 females) with pathologically confirmed bronchogenic cysts involving the spinal cord between 2009 and 2016 were retrospectively reviewed, and follow-up evaluations were performed...
October 25, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29079071/occult-spinal-cord-injury-after-blunt-force-trauma-in-a-patient-with-achondroplasia-a-case-report-and-review-of-trauma-management-strategy
#13
Martin Huecker, Zach Harris, Eric Yazel
BACKGROUND: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Restrictive lung disease and obstructive sleep apnea may complicate respiratory status. Peripheral and central venous access can be difficult to obtain...
October 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29078756/effects-of-lung-protective-mechanical-ventilation-associated-with-permissive-respiratory-acidosis-on-regional-extra-pulmonary-blood-flow-in-experimental-ards
#14
Rudolf Hering, Stefan Kreyer, Christian Putensen
BACKGROUND: Lung protective mechanical ventilation with limited peak inspiratory pressure has been shown to affect cardiac output in patients with ARDS. However, little is known about the impact of lung protective mechanical ventilation on regional perfusion, especially when associated with moderate permissive respiratory acidosis. We hypothesized that lung protective mechanical ventilation with limited peak inspiratory pressure and moderate respiratory acidosis results in an increased cardiac output but unequal distribution of blood flow to the different organs of pigs with oleic-acid induced ARDS...
October 27, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/29074702/respiratory-consequences-of-targeted-losses-of-hoxa5-gene-function-in-mice
#15
Kim Landry-Truchon, Stéphanie Fournier, Nicolas Houde, Jean-Philippe Rousseau, Lucie Jeannotte, Richard Kinkead
Fetal development of the respiratory tract and diaphragm requires strict coordination between genetically controlled signals and mechanical forces produced by the neural network that generates breathing. Being expressed in the mesenchyme of trachea, lung and diaphragm, and in phrenic motoneurons HOXA5 is a key transcription factor regulating lung development and function. Consequently, most Hoxa5(-/-) mutants die at birth from respiratory failure. However, the extensive effect of the null mutation makes it difficult to identify the origins of respiratory dysfunction in newborns...
October 26, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29068039/respiratory-cardiovascular-and-metabolic-responses-during-different-modes-of-overground-bionic-ambulation-in-persons-with-motor-incomplete-spinal-cord-injury-a-case-series
#16
Jochen Kressler, Tracie Wymer, Antoinette Domingo
OBJECTIVE: To investigate the effects of overground bionic ambulation with variable assistance on cardiorespiratory and metabolic responses in persons with motor-incomplete spinal cord injury. DESIGN: Case series. SUBJECTS: Four participants with chronic, motor-incomplete spinal cord injury. METHODS: Subjects completed a maximal graded exercise test on an arm-ergometer and 3 6-min bouts of overground bionic ambulation using different modes of assistance, i...
October 25, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29060280/an-ic-based-controllable-stimulator-for-respiratory-muscle-stimulation-investigations
#17
Jonathan Castelli, Florian Kolbl, Ricardo Siu, Gilles N'Kaoua, Yannick Bornat, Ashwin Mangalore, Brian Hillen, James J Abbas, Sylvie Renaud, Ranu Jung, Noelle Lewis
Functional Electrical Stimulation can be used to restore motor functions loss consecutive to spinal cord injury, such as respiratory deficiency due to paralysis of ventilatory muscles. This paper presents a fully configurable IC-centered stimulator designed to investigate muscle stimulation paradigms. It provides 8 current stimulation channels with high-voltage compliance and real-time operation capabilities, to enable a wide range of FES applications. The stimulator can be used in a standalone mode, or within a closed-loop setup...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#18
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049229/neck-to-shoulder-pain-as-an-unusual-presentation-of-pulmonary-embolism-in-a-patient-with-cervical-spinal-cord-injury-a-case-report
#19
Dong Gyu Lee, Min Cheol Chang
RATIONALE: Information on referred pain can be helpful for diagnosing diseases of the visceral organs. Here, the authors report a patient with cervical spinal cord injury (SCI) who had referred pain at the right side from the neck to shoulder, as a presentation of pulmonary embolism (PE). PATIENT CONCERNS: A 55-year-old man with complete tetraplegia, due to cervical SCI after C5 and C6 vertebral body fracture, complained of right neck-to-shoulder pain (numerical scale rating: 6)...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29047318/spontaneous-spinal-epidural-hemorrhage-following-disseminated-intravascular-coagulation-resulting-in-paraplegia-a-case-report
#20
Nazia Dildar, Saeed Bin Ayaz, Muhammad Omer Aamir, Nadeem Ahmad
CONTEXT: Spontaneous spinal epidural hemorrhage (SSEH) mostly presents as low back pain with or without a radiculopathy, and rarely with paraplegia or tetraplegia depending on the site and severity of spinal cord compression. We present here a case who had anemia and developed paraplegia following disseminated intravascular coagulation (DIC) due to a transfusion reaction. FINDINGS: A 65-year-old lady presented with sudden onset chest pain radiating to nape of the neck followed by loss of sensations and power in legs few hours after a blood transfusion...
October 19, 2017: Journal of Spinal Cord Medicine
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