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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635343/primary-psychopathy-and-alcohol-pathology-in-college-students-the-role-of-protective-behavioral-strategies
#2
Matthew P Kramer, Brittany L Stevenson, Robert D Dvorak
OVERVIEW: Though not an official diagnosis, psychopathy has become an important area of research due to the litany of deleterious outcomes associated with this aspect of temperament. Psychopathy is composed of primary and secondary traits. Research consistently links psychopathy to alcohol pathology, though often only via secondary traits which are comprised of intractable aspects of behavior (e.g., poor impulse control). In contrast, primary psychopathy is comprised of behaviors that can be learned and thus may be more malleable (i...
February 13, 2017: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/28634542/angioedema-perioperative-management
#3
Andrew A Maynard, Christina F Burger, Joseph J Schlesinger
OBJECTIVE: To describe the perioperative management of a patient with acquired angioedema (AAE). METHODS: A 66-year-old Caucasian male presented from an outside hospital with a history of acquired angioedema and gastrointestinal stromal tumor-related intractable urticaria and mastocytosis. He was admitted for urgent laparoscopic partial gastrectomy, secondary to gastric outlet obstruction symptomatology. Previous combined attacks were characterized by a widespread rash, abdominal pain and respiratory distress resulting in hospitalization...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28633568/the-potential-inhibitory-effect-of-%C3%AE-casein-on-the-aggregation-and-deposition-of-a%C3%AE-1-42-fibrils-in-alzheimer-s-disease-insight-from-in-vitro-and-in-silico-studies
#4
Sedighehsadat Hojati, Arezou Ghahghaei, Milad Lagzian
Aβ1-40 and Aβ1-42 have been shown to be the main components of the amyloid plaques found in the extracellular environment of neurons in Alzheimer's disease. β-Casein, a milk protein, has been shown to display a remarkable chaperone ability in preventing the aggregation of proteins. In this study, the ability of β-casein to suppress the amyloid fibril formation of Aβ1-42 has been examined through in vitro studies and molecular docking simulation. The results demonstrate the inhibitory effect of β-casein on fibril formation in Aβ1-42, in a concentration dependent manner, suggesting that the chaperone binds to the Aβ1-42 and prevents amyloid fibril formation...
June 20, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28633352/aortopulmonary-window-results-of-repair-beyond-infancy%C3%A2
#5
Sachin Talwar, Bharat Siddharth, Saurabh Kumar Gupta, Shiv Kumar Choudhary, Shyam Sunder Kothari, Rajnish Juneja, Anita Saxena, Balram Airan
OBJECTIVES: To study the anatomic and haemodynamic data and results of surgery in patients undergoing surgical repair of aortopulmonary window beyond infancy. METHODS: Between July 2005 and December 2015, 23 patients, older than 1 year undergoing surgery for aortopulmonary window were analysed retrospectively. Postoperative clinical and echocardiography follow-up were performed. RESULTS: Median age and weight at repair was 4 years (range 14 months-12 years) and 12 kg (range 3...
June 13, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#6
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28632962/a-novel-minimally-invasive-wireless-technology-for-neuromodulation-via-percutaneous-intercostal-nerve-stimulation-pns-for-post-herpetic-neuralgia-a-case-report-with-short-term-follow-up
#7
Bart Billet, Roel Wynendaele, Niek E Vanquathem
BACKGROUND: Peripheral nerve stimulation (PNS) of primary afferent neurons provides control of localized chronic pain. This technique applies permanent electrical stimulation at the target area via a minimally invasive, subcutaneous placement of an electrode. OBJECTIVE: To assess analgesic effects of a minimally invasive wireless neuromodulation in the treatment of chronic intractable pain secondary to post-herpetic neuralgia. CASE SUMMARY: A 78-year-old man presented with severe intractable post herpetic neuralgic pain...
June 20, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28632818/benefits-of-islet-transplantation-as-an-alternative-to-pancreas-transplantation-retrospective-study-of-more-than-10-ten-years-of-experience-in-a-single-center
#8
Barbora Voglová, Martina Zahradnická, Peter Girman, Jan Kríž, Zuzana Berková, Tomáš Koblas, Ema Vávrová, Lenka Németová, Lucie Kosinová, David Habart, Eva Fábryová, Eva Dovolilová, Ivan Leontovyc, Tomáš Neškudla, Jan Peregrin, Jozef Kovác, Kvetoslav Lipár, Matej Kocík, Tomáš Marada, Jirí Svoboda, František Saudek
BACKGROUND: Pancreas transplantation (PTx) represents the method of choice in type 1 diabetic patients with conservatively intractable hypoglycemia unawareness syndrome. In 2005, the Institute for Clinical and Experimental Medicine (IKEM) launched a program to investigate the safety potential of islet transplantation (ITx) in comparison to PTx. AIM: This study aims to compare the results of PTx and ITx regarding severe hypoglycemia elimination, metabolic control, and complication rate...
2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/28631871/efficacy-of-percutaneous-endoscopic-gastro-jejunostomy-peg-j-decompression-therapy-for-patients-with-chronic-intestinal-pseudo-obstruction-cipo
#9
H Ohkubo, A Fuyuki, J Arimoto, T Higurashi, T Nonaka, Y Inoh, H Iida, M Inamori, T Kaneda, A Nakajima
BACKGROUNDS: Chronic intestinal pseudo-obstruction (CIPO) is an intractable rare digestive disease manifesting persistent small bowel distension without any mechanical cause. Intestinal decompression is a key treatment, but conventional method including a trans-nasal small intestinal tube is invasive and painful. Therefore, a less invasive and tolerable new decompression method is urgently desired. We conducted a pilot study and assessed the efficacy and safety of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy in CIPO patients...
June 20, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28630934/ligand-binding-to-a-g-protein-coupled-receptor-captured-in-a-mass-spectrometer
#10
Hsin-Yung Yen, Jonathan T S Hopper, Idlir Liko, Timothy M Allison, Ya Zhu, Dejian Wang, Monika Stegmann, Shabaz Mohammed, Beili Wu, Carol V Robinson
G protein (heterotrimeric guanine nucleotide-binding protein)-coupled receptors belong to the largest family of membrane-embedded cell surface proteins and are involved in a diverse array of physiological processes. Despite progress in the mass spectrometry of membrane protein complexes, G protein-coupled receptors have remained intractable because of their low yield and instability after extraction from cell membranes. We established conditions in the mass spectrometer that preserve noncovalent ligand binding to the human purinergic receptor P2Y1...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28630413/bayesian-inference-of-physiologically-meaningful-parameters-from-body-sway-measurements
#11
A Tietäväinen, M U Gutmann, E Keski-Vakkuri, J Corander, E Hæggström
The control of the human body sway by the central nervous system, muscles, and conscious brain is of interest since body sway carries information about the physiological status of a person. Several models have been proposed to describe body sway in an upright standing position, however, due to the statistical intractability of the more realistic models, no formal parameter inference has previously been conducted and the expressive power of such models for real human subjects remains unknown. Using the latest advances in Bayesian statistical inference for intractable models, we fitted a nonlinear control model to posturographic measurements, and we showed that it can accurately predict the sway characteristics of both simulated and real subjects...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28628556/real-time-imaging-of-epileptic-seizures-in-rats-using-electrical-impedance-tomography
#12
Lei Wang, Yang Sun, Xinmin Xu, Xiuzhen Dong, Feng Gao
The presence of multiple or diffuse lesions on imaging is a contraindication to surgery for patients with intractable epilepsy. Theoretically, as a functional imaging technique, electrical impedance tomography (EIT) can accurately image epileptic foci. However, most current studies are limited to examining epileptic spikes and few studies use EIT for real-time imaging of seizure activity. Moreover, little is known about changes in electrical impedance during seizures. In this study, we used EIT to monitor seizure progression in real time and analyzed changes in electrical impedance during seizures...
June 16, 2017: Neuroreport
https://www.readbyqxmd.com/read/28626230/engineering-of-obligate-intracellular-bacteria-progress-challenges-and-paradigms
#13
REVIEW
Erin E McClure, Adela S Oliva Chávez, Dana K Shaw, Jason A Carlyon, Roman R Ganta, Susan M Noh, David O Wood, Patrik M Bavoil, Kelly A Brayton, Juan J Martinez, Jere W McBride, Raphael H Valdivia, Ulrike G Munderloh, Joao H F Pedra
It is estimated that approximately one billion people are at risk of infection with obligate intracellular bacteria, but little is known about the underlying mechanisms that govern their life cycles. The difficulty in studying Chlamydia spp., Coxiella spp., Rickettsia spp., Anaplasma spp., Ehrlichia spp. and Orientia spp. is, in part, due to their genetic intractability. Recently, genetic tools have been developed; however, optimizing the genomic manipulation of obligate intracellular bacteria remains challenging...
June 19, 2017: Nature Reviews. Microbiology
https://www.readbyqxmd.com/read/28625944/intractable-ictal-vomiting-a-new-form-of-reflex-epilepsy
#14
Sachin Sureshbabu, Dinesh Nayak, Vikash Aggarwal, Sudhir Peter, Laxmi Khanna, Gaurav Mittal
In this description of the clinical course of a young female with persistent and protracted vomiting along with occasional loss of consciousness and subtle motor manifestations, the differential diagnosis is debated. The epileptic origin of her symptoms was substantiated by the presence of interictal epileptiform discharges and dramatic response to valproate monotherapy. Possible lobar localizations are discussed with the support of existing literature on this rare ictal manifestation [Published with video sequence on www...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625693/long-term-functional-outcomes-after-replacement-of-the-esophagus-in-pediatric-patients-a-systematic-literature-review
#15
REVIEW
Stefano Garritano, Tomoyuki Irino, Chiara Maria Scandavini, Andrianos Tsekrekos, Lars Lundell, Ioannis Rouvelas
BACKGROUND: The indications of esophageal replacement (ER) in pediatric patients include long gap esophageal atresia (LGEA), intractable post-corrosive esophageal strictures (PCES), and some rare esophageal diseases. Various conduits and procedures are currently used worldwide with a lack of consensus regarding the ideal substitute to replace the esophagus replacement. The short-term outcomes of these advanced procedures are well known; there are few data available describing long-term functional outcomes of these patients with long life expectancy...
June 8, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28623069/neonatal-hypoglycemia-a-wide-range-of-electroclinical-manifestations-and-seizure-outcomes
#16
Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın, Tuğba Hirfanoğlu, Yılmaz Akbaş
PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28622426/experimental-study-on-the-friction-effect-of-plastic-stent-for-biliary-stone-fragmentation-with-video
#17
Chang-Il Kwon, Gwangil Kim, Seok Jeong, Sung Hoon Choi, Kwang Hyun Ko, Don Haeng Lee, Joo Young Cho, Sung Pyo Hong
OBJECTIVES: In patients with irretrievable or intractable bile duct stone, temporary insertion of plastic stent (PS) followed by further ERCP or surgery has been recommended as a "bridge" therapy. However, the exact mechanism of stone fragmentation has not been discovered. The aim of this study was to evaluate whether PS shape can facilitate stone fragmentation. METHODS: Using a new in vitro bile flow phantom model, we compared the friction effect among the three different PS groups (straight PS group; double pigtail-shaped PS group, and screw-shaped PS group) and the control group...
June 16, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28621831/a-new-rat-model-of-seizures-suitable-for-screening-antiepileptic-electrical-stimulation-therapies
#18
Cristian Sevcencu, Jianhang Jiao, Kristian Rauhe Harreby, Winnie Jensen
The antiepileptic effects of the electrical stimulation therapies developed for patients with intractable epilepsies depend critically on the stimulation parameters, including the pulse duration, current, and frequency. Consequently, optimization of such therapies requires many animals for testing each of the stimulation parameters alone or in combination, which is costly and time consuming. This drawback could be reduced by testing several stimulation paradigms in each animal, but this requires an animal model of long-lasting seizures allowing such repetitive tests...
June 16, 2017: Artificial Organs
https://www.readbyqxmd.com/read/28621621/indications-technique-and-safety-profile-of-insular-stereoelectroencephalography-electrode-implantation-in-medically-intractable-epilepsy
#19
Soha Alomar, Jeffrey P Mullin, Saksith Smithason, Jorge Gonzalez-Martinez
OBJECTIVE Insular epilepsy is relatively rare; however, exploring the insular cortex when preoperative workup raises the suspicion of insular epilepsy is of paramount importance for accurate localization of the epileptogenic zone and achievement of seizure freedom. The authors review their clinical experience with stereoelectroencephalography (SEEG) electrode implantation in patients with medically intractable epilepsy and suspected insular involvement. METHODS A total of 198 consecutive cases in which patients underwent SEEG implantation with a total of 1556 electrodes between June 2009 and April 2013 were reviewed...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28621250/tuberculous-bronchoesophageal-fistula-presenting-as-intractable-cough
#20
Venkatraman Indiran
Intractable cough is one of the debilitating conditions, which warrants immediate investigation to find out the underlying cause. There are numerous causes of intractable cough. We present one such young immunocompromised post renal transplant patient with pulmonary tuberculosis and severe uncontrolled cough due to bronchoesophageal fistula. Bronchoesophageal fistula representing abnormal communication between bronchus and esophagus is an uncommon condition. We emphasize the role of CT in such cases.
March 2017: Tüberküloz Ve Toraks
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