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https://www.readbyqxmd.com/read/28079786/fatal-postoperative-systemic-pulmonary-hypertension-in-benfluorex-induced-valvular-heart-disease-surgery-a-case-report
#1
Christophe Baufreton, Patrick Bruneval, Marie-Christine Rousselet, Pierre-Vladimir Ennezat, Olivier Fouquet, Raphael Giraud, Carlo Banfi
RATIONALE: Drug-induced valvular heart disease (DI-VHD) remains an under-recognized entity. PATIENT CONCERNS: This report describes a heart valve replacement which was complicated by intractable systemic pulmonary arterial hypertension in a 61-year-old female with severe restrictive mitral and aortic disease. The diagnosis of valvular disease was preceded by a history of unexplained respiratory distress. The patient had been exposed to benfluorex for 6.5 years. DIAGNOSES: The diagnostic procedure documented specific drug-induced valvular fibrosis...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079431/vagus-nerve-stimulation-in-intractable-epilepsy-associated-with-scn1a-gene-abnormalities
#2
Stephen P Fulton, Kate Van Poppel, Amy L McGregor, Basanagoud Mudigoudar, James W Wheless
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28077182/functional-tricuspid-stenosis-a-rare-presentation-of-suspected-rhabdomyoma-as-congenital-cyanotic-heart-disease
#3
Anishkumar Nair, Gopalan Nair Rajesh, Chakanalil Govindan Sajeev
Cardiac tumours in newborns are often asymptomatic and can be sporadically detected on routine screening unless they result in intractable arrhythmias or haemodynamically significant obstructions causing heart failure. Their presentation as a cause of congenital cyanosis is never anticipated. We report a rare case of a newborn presenting with congenital cyanosis consequent to suspected cardiac rhabdomyoma causing tricuspid inflow obstruction. Our experience with this patient with two large cardiac masses illustrates the significance of its inclusion in the differential diagnosis of perinatal cyanosis, as early detection and surgical management might be the only lifesaving options, if performed well in time...
January 12, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28076316/changes-of-thyroid-hormonal-status-in-patients-receiving-ketogenic-diet-due-to-intractable-epilepsy
#4
Engin Kose, Orkide Guzel, Korcan Demir, Nur Arslan
BACKGROUND: Ketogenic diet (KD), which is high in fat and low in carbohydrates, mimics the metabolic state of starvation and is used therapeutically for pharmacoresistant epilepsy. It is known that generation of triiodothyronine (T3) from thyroxine (T4) decreases during fasting periods. The aim of this study was to evaluate the thyroid function of children receiving KD for at least 1 year due to drug-resistant epilepsy. METHODS: A total of 120 patients [63 males, 52...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28074584/the-limits-of-surrogates-moral-authority-and-physician-professionalism-can-the-paradigm-of-palliative-sedation-be-instructive
#5
Jeffrey T Berger
With narrow exception, physicians' treatment of incapacitated patients requires the consent of health surrogates. Although the decision-making authority of surrogates is appropriately broad, their moral authority is not without limits. Discerning these bounds is particularly germane to ethically complex treatments and has important implications for the welfare of patients, for the professional integrity of clinicians, and, in fact, for the welfare of surrogates. Palliative sedation is one such complex treatment; as such, it provides a valuable model for analyzing the scope of surrogates' moral authority...
January 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28074576/decisions-and-authority
#6
Gregory E Kaebnick
This issue of the Hastings Center Report (January-February 2017) features three articles exploring aspects of decision-making for others. In the first two, the focus is on the limits of surrogate decision-makers' authority when the surrogates' judgments about a patient's treatment conflict with the physicians'. If a physician decides that a patient will not benefit from CPR, for example, but the patient's surrogate insists on it, is the physician obliged to proceed with the procedure? Or can the physician, pointing to a duty to provide good care to the patient and not to cause the patient to suffer, get a do-not-resuscitate order for the patient-even in the face of the surrogate's objections? These are the questions that animate the first article, in which a group of authors report on a policy implemented at Massachusetts General Hospital to help doctors who face this dilemma...
January 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28074282/unique-findings-of-subependymal-giant-cell-astrocytoma-within-cortical-tubers-in-patients-with-tuberous-sclerosis-complex-a-histopathological-evaluation
#7
Joel S Katz, Hyman Frankel, Tracy Ma, David Zagzag, Benjamin Liechty, Bruria Ben Zeev, Michal Tzadok, Orrin Devinsky, Howard L Weiner, Jonathan Roth
INTRODUCTION: Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy...
January 10, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#8
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073591/neuropeptide-y-neuronal-network-dysfunction-in-the-frontal-lobe-of-a-genetic-mouse-model-of-schizophrenia
#9
Shunsuke Morosawa, Shuji Iritani, Hiroshige Fujishiro, Hirotaka Sekiguchi, Youta Torii, Chikako Habuchi, Keisuke Kuroda, Kozo Kaibuchi, Norio Ozaki
Neuropeptide Y (NPY) has been found to play a critical role in various mental functions as a neurotransmitter and is involved in the development of schizophrenia, a particularly intractable psychiatric disease whose precise etiology remains unknown. Recent molecular biological investigations have identified several candidate genes which may be associated with this disease, including disrupted-in-schizophrenia 1 (DISC1). The role of DISC1 would involve neurogenesis and neuronal migration. However, the functional consequences of this gene defect have not yet been fully clarified in neuronal systems...
January 5, 2017: Neuropeptides
https://www.readbyqxmd.com/read/28072807/occipital-nerve-stimulation-for-refractory-chronic-migraine-results-of-a-long-term-prospective-study
#10
Dolores Rodrigo, Pilar Acin, Pedro Bermejo
BACKGROUND: Refractory chronic migraine affects approximately 4% of the population worldwide and results in severe pain, lifestyle limitations, and decreased quality of life. Occipital nerve stimulation (ONS) refers to the electric stimulation of the distal branches of greater and lesser occipital nerves; the surgical technique has previously been described and has demonstrated efficacy in the treatment of a wide variety of headache disorders. OBJECTIVES: The aim of this study is to evaluate the long-term efficacy and tolerability of ONS for medically intractable chronic migraine...
January 2017: Pain Physician
https://www.readbyqxmd.com/read/28071947/presacral-abscess-as-a-rare-complication-of-sacral-nerve-stimulator-implantation
#11
A Gumber, S Ayyar, H Varia, S Pettit
A 50-year-old man with intractable anal pain attributed to proctalgia fugax underwent insertion of a sacral nerve stimulator via the right S3 vertebral foramen for pain control with good symptomatic relief. Thirteen months later, he presented with signs of sepsis. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a large presacral abscess. MRI demonstrated increased enhancement along the pathway of the stimulator electrode, indicating that the abscess was caused by infection introduced at the time of sacral nerve stimulator placement...
January 10, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28068444/effectiveness-of-an-eyelid-thermal-pulsation-procedure-to-treat-recalcitrant-dry-eye-symptoms-after-laser-vision-correction
#12
Craig S Schallhorn, Julie M Schallhorn, Stephen Hannan, Steven C Schallhorn
PURPOSE: To provide an initial retrospective evaluation of the effectiveness of a thermal pulsation system to treat intractable patient-reported dye eye symptoms following laser vision correction. METHODS: A total of 109 eyes of 57 patients underwent thermal pulsation therapy (LipiFlow; TearScience, Morrisville, NC) for the treatment of dry eye symptoms following laser vision correction. A standardized dry eye questionnaire, the Standard Patient Evaluation of Eye Dryness (SPEED II), was administered to all patients before and after thermal pulsation therapy...
January 1, 2017: Journal of Refractive Surgery
https://www.readbyqxmd.com/read/28067704/intravenous-ketamine-infusions-for-neuropathic-pain-management-a-promising-therapy-in-need-of-optimization
#13
Dermot P Maher, Lucy Chen, Jianren Mao
Intravenous ketamine infusions have been used extensively to treat often-intractable neuropathic pain conditions. Because there are many widely divergent ketamine infusion protocols described in the literature, the variation in these protocols presents a challenge for direct comparison of one protocol with another and in discerning an optimal protocol. Careful examination of the published literature suggests that ketamine infusions can be useful to treat neuropathic pain and that certain characteristics of ketamine infusions may be associated with better clinical outcomes...
January 5, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28066521/interventions-to-manage-residual-limb-ulceration-due-to-prosthetic-use-in-individuals-with-lower-extremity-amputation-a-systematic-review-of-the-literature
#14
M Jason Highsmith, Jason T Kahle, Tyler D Klenow, Casey R Andrews, Katherine L Lewis, Rachel C Bradley, Jessica M Ward, John J Orriola, James T Highsmith
Patients with lower extremity amputation (LEA) experience 65% more dermatologic issues than non-amputees, and skin problems are experienced by ≈75% of LEA patients who use prostheses. Continuously referring LEA patients to a dermatologist for every stump related skin condition may be impractical. Thus, physical rehabilitation professionals should be prepared to recognize and manage common non-emergent skin conditions in this population. The purpose of this study was to determine the quantity, quality, and strength of available evidence supporting treatment methods for prosthesis-related residual limb (RL) ulcers...
September 2016: Technology and Innovation
https://www.readbyqxmd.com/read/28063680/gastric-tube-esophagoplasty-for-pediatric-esophageal-replacement
#15
Mahmoud M A Elfiky, Gamal El Tagy, Wissam Mohamed, Osama Abdel Azim, Mohamed A Elfiky
BACKGROUND: Esophageal replacement in children is indicated in cases of esophageal atresia with or without fistula, in case of long gap esophageal atresia or failed primary repair. Intractable post corrosive esophageal stricture is considered also a major indication for replacement. METHODS: This is a cohort retrospective study of esophageal replacement cases by gastric tube carried out at the pediatric surgery department at Cairo University between 2011 and 2015...
December 24, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28062900/melorheostosis-with-recurrent-soft-tissue-components-a-histologically-confirmed-case
#16
Shoichi Hasegawa, Shotaro Kanda, Hiroki Imada, Takehiko Yamaguchi, Toru Akiyama
Melorheostosis is a very rare disorder characterized by irregular cortical thickening seen on radiographs. In this paper, we present a case of melorheostosis with microscopically confirmed soft-tissue components. The patient was a 51-year-old man who complained of severe pain in the lateral aspect of his right knee. The excision of an ossified soft-tissue lesion relieved intractable pain that had lasted 20 years. Microscopically, the cortex of the affected fibula was composed of thick compact bone and the soft-tissue component consisted of dense compact bone without endochondral ossification...
January 6, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28058727/exppning-how-acetylcholine-improves-gait-in-parkinson-s-disease-an-editorial-highlight-for-deletion-of-the-vesicular-acetylcholine-transporter-from-pedunculopontine-laterodorsal-tegmental-neurons-modifies-gait
#17
EDITORIAL
Björn Falkenburger
Gait impairment is one of the most intractable symptoms of Parkinson's disease, responding poorly to dopaminergic medication. Promising therapeutic strategies include deep brain stimulation (DBS) of the pedunculopontine nucleus (PPN) and enhancing cholinergic neurotransmission by acetylcholine esterase inhibitors. This Editorial discusses an elegant study by Janickova and coworkers in the current issue of the Journal of Neurochemistry, in which the authors engineered mice lacking cholinergic transmission selectively in the PPN and demonstrate that cholinergic neurons of the PPN are critical for gait...
January 6, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28057056/right-iliac-vein-thrombosis-mimicking-acute-appendicitis-in-pregnancy-a-case-report
#18
Desmond Aroke, Benjamin Momo Kadia, Christian Akem Dimala, Ndemazie Nkafu Bechem, Larry Tangie Ngek, Simeon Pierre Choukem
BACKGROUND: Right iliac vein thrombosis is uncommon in pregnancy. Nonetheless, when it does occur, its presentation could be very unspecific with important diagnostic challenges and this could have negative therapeutic consequences especially in a resource limited setting. CASE PRESENTATION: The historical, clinical and laboratory data of a 30 year old G2P1001 woman of African ethnicity at 11 weeks of gestation pointed towards a right iliac vein thrombosis missed for an acute appendicitis with subsequent appendectomy and failure to cure...
January 3, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28056425/fcd-type-ii-and-mtor-pathway-evidence-for-different-mechanisms-involved-in-the-pathogenesis-of-dysmorphic-neurons
#19
Laura Rossini, Flavio Villani, Tiziana Granata, Laura Tassi, Giovanni Tringali, Francesco Cardinale, Eleonora Aronica, Roberto Spreafico, Rita Garbelli
Type II focal cortical dysplasia (FCD II) is a malformation of cortical development, frequently associated with intractable epilepsy, characterised by cortical dyslamination, dysmorphic neurons (DNs) and balloon cells (BCs). We investigated the expression of pS6 (downstream target) and pPDK1-pAkt (upstream targets) as evidence for mTOR pathway activation and their co-expression with Interleukin-1β in FCD II surgical specimens and compared the findings with control non-epileptic tissue, non-malformed epileptic tissue or acquired epilepsy-Rasmussen's Encephalitis (RE) occasionally presenting pS6 and Interleukin-1β positive abnormal neurons...
December 7, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28056362/structures-of-biomolecular-complexes-by-combination-of-nmr-and-cryoem-methods
#20
REVIEW
Philippe Cuniasse, Paulo Tavares, Elena V Orlova, Sophie Zinn-Justin
CryoEM is presently providing structures of biocomplexes considered intractable to analysis by other structural techniques. NMR is playing an important role in delivering structural information on dynamics events and conformational heterogeneity. Impressive results were obtained by combining cryoEM and either liquid- or solid-state NMR, revealing the structures of cellular machines, filaments and amyloid fibrils. NMR solution structures of proteins and nucleic acids were fitted, together with crystallographic structures, into cryoEM maps of large complexes, to decipher their assembly mechanisms and describe their functional dynamics...
January 2, 2017: Current Opinion in Structural Biology
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