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https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#1
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28811010/distinct-clinical-characteristics-of-paroxysmal-nocturnal-hemoglobinuria-in-patients-in-southern-taiwan-a-multicenter-investigation
#2
Hui-Ching Wang, Ching-Yuan Kuo, I-Ting Liu, Tsai-Yun Chen, Yu-Hsiang Chang, Shyh-Jer Lin, Shih-Feng Cho, Yi-Chang Liu, Ta-Chih Liu, Sheng-Fung Lin, Chao-Sung Chang
Paroxysmal nocturnal hemoglobinuria (PNH) is an extremely rare acquired disorder. The aim of this study was to investigate the demographics, clinical manifestations, and outcomes of PNH patients in southern Taiwan. Data on PNH patients diagnosed over a 30-year period (1985-2015) were retrospectively collected from four tertiary medical centers in southern Taiwan. Blood samples were collected for hematologic panel testing and flow cytometry detection of PNH clones. Radiologic studies were performed to assess the frequency of complications...
August 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28807784/gabapentin-prevents-cortical-spreading-depolarization-induced-disinhibition
#3
Masoud Mesgari, Johanna Krüger, Christopher Theo Riemer, Maryam Khaleghi Ghadiri, Stjepana Kovac, Ali Goji
Cortical spreading depolarization (CSD) has an important role in brain diseases such as stroke, subarachnoid haemorrhage, migraine with aura, and epilepsy. Several anti-epileptic drugs (AEDs) are used to treat paroxysmal brain diseases and are thus known to suppress CSD. One of these AEDs is gabapentin (GBP) which has been traditionally used for treatment of some CSD-related neurological diseases. We applied intra- and extracellular recordings to investigate the effect of CSD on inhibitory post synaptic potentials (IPSPs) and synaptic properties of rodent neocortex after application of GBP...
August 11, 2017: Neuroscience
https://www.readbyqxmd.com/read/28800356/factors-associated-with-benign-paroxysmal-positional-vertigo-a-chinese-case-control-study
#4
Junliang Yuan, Jinsheng Dai, William A Li, Wenli Hu
BACKGROUND Benign paroxysmal positional vertigo (BPPV) is one of the most common and most successfully treated vestibular disorders. However, there is a lack of predictive factors for BPPV in clinical practice. We aimed to explore several possible predictive factors for BPPV in the Chinese population. MATERIAL AND METHODS We enrolled 240 patients with BPPV from Beijing Chaoyang Hospital between July 2013 and July 2016. Biochemical and hematological markers were obtained along with the history of cardiovascular and cerebrovascular diseases...
August 11, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28796431/acute-kidney-injury-in-a-postpartum-woman-with-paroxysmal-nocturnal-hemoglobinuria-a-case-report-and-literature-review
#5
Masatoshi Nishimoto, Masaru Matsui, Hideo Tsushima, Kaori Tanabe, Miho Tagawa, Ken-Ich Samejima, Yasuhiro Akai, Yoshihiko Saito
Paroxysmal nocturnal hemoglobinuria is a rare clonal hematopoietic stem cell disorder characterized by intravascular hemolysis, hemoglobinuria, and inflammatory thrombotic state. Intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH) can lead to acute and chronic renal injury through hemoglobin-mediated toxicity. A 32-year-old pregnant woman with myelodysplastic syndrome was admitted to our hospital with severe preeclampsia. Shortly after an urgent caesarean section, she became obtunded and showed signs of acute kidney injury (AKI) with anuria, severe intravascular hemolysis, and hypermagnesemia...
August 10, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28791857/antiarrhythmic-properties-of-atrial-pacing
#6
REVIEW
Magdalena Kliś, Agnieszka Sławuta, Jacek Gajek
Bradycardia, atrial stretch and dilatation, autonomic nervous system disorders, and the presence of triggers such as atrial premature contractions, are factors which predispose a person to paroxysmal AF. Atrial pacing not only eliminates bradycardia but also prevents atrial premature contractions and dispersion of refractoriness, which are a substrate for atrial fibrillation. As the prolonged duration of atrial activation during pacing, especially from locations changing the physiological pattern of this activation (right atrium lateral wall, right atrium appendage), negatively influences both a mechanical and an electrical function of the atria, the atrial pacing site affects an atrial arrhythmogenesis...
March 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28781057/multiple-lacunar-infarcts-in-paroxysmal-nocturnal-hemoglobinuria
#7
Alex Tiburtino Meira, Gabriel Sampaio Froehner, André Petean Trindade, Silméia Garcia Zanati Bazan, Gabriel Pereira Braga, Rodrigo Bazan
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease characterized by clonal hematopoietic stem cell disorder, with increased mortality and morbidity. Venous thrombosis is the most common cause of mortality in PNH. The relationship between PNH and cerebrovascular disease is unclear; few cases are reported in the literature, most of them related to cerebral venous thrombosis; In PNH the involvement of intracranial and extracranial arterial sites is very rare. We report a case of a 49-year-old woman who has a medical history of diabetes mellitus, hypertension, and PNH and presented multiple lacunar strokes in a routine consultation with a hematologist...
August 3, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28767521/disabling-central-paroxysmal-positioning-upbeat-nystagmus-and-vertigo-associated-with-the-presence-of-anti-glutamic-acid-decarboxylase-antibodies
#8
Ana I Martins, João N Carvalho, Ana M Amorim, Argemiro Geraldo, Eric Eggenberger, João Lemos
An immune attack by anti-glutamic acid decarboxylase (GAD) antibodies is believed to cause a deficiency in gamma-aminobutyric acid-mediated neurotransmission in the cerebellum. This, in turn, leads to several eye movement disorders, including spontaneous downbeat (DBN) and periodic alternating nystagmus. We describe a 68-year-old diabetic woman with disabling paroxysmal positioning upbeat nystagmus (UBN) exclusively in the supine position, associated with asymptomatic spontaneous DBN, alternating skew deviation and hyperactive vestibulo-ocular reflex responses on head impulse testing, in whom high titers of anti-GAD antibodies were detected...
August 1, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28766469/the-forsaking-of-the-clinical-eeg-by-psychiatry-how-justified
#9
Nash N Boutros
Despite decades of publications attesting to the role of the clinical EEG in diagnosing and managing psychiatric disorders, the procedure remains highly underutilized in the practice of psychiatry. The visually inspected EEG (vEEG) can detect various forms of abnormalities, each with its own clinical significance. Abnormalities can be paroxysmal (i.e., suggestive of an epileptic-like process) or stationary. The most important unanswered question remains the value of detecting epileptiform activity in a nonepileptic psychiatric patient in predicting favorable responses to anticonvulsant treatment...
August 2, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/28763736/schizophrenia-dissection-by-five-anxiety-and-depressive-subtype-comorbidities-clinical-implications-and-evolutionary-perspective
#10
André B Veras, Simone Cougo, Fernanda Meira, Clayton Peixoto, Jorge A Barros, Antonio E Nardi, Dolores Malaspina, Michael Poyurovsky, Jeffrey P Kahn
Twenty patients with DSM5 schizophrenia were comprehensively and formally assessed by an experienced psychiatrist. All subjects were assessed for: positive and negative psychotic symptoms; social anxiety; panic anxiety; obsessive compulsive disorder, atypical depression; major depression; suicide risk; and global assessment of functioning. Different profiles of clinical presentation and symptom evolution emerged for patients with schizophrenia who had co-morbid depression (15%), OCD (15%), panic or limited symptom attacks (55%) and social anxiety (5%)...
July 26, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28761231/renal-manifestations-in-paroxysmal-nocturnal-hemoglobinuria
#11
R Ram, K P Adiraju, S Gudithi, K V Dakshinamurty
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic disorder characterized by a triad of clinical features - hemolytic anemia, pancytopenia, and thrombosis. Not many reports of renal involvement in PNH are available in literature. We present a case series of PNH with renal involvement. We present the data of PNH patients who attended to Departments of General Medicine and Nephrology at a government-run tertiary care institute in South India. The diagnosis of PNH in these patients during initial phase, between 1998 and 2004 was based on sucrose lysis and Ham's test...
July 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28760150/bilateral-pheochromocytoma-with-ganglioneuroma-component-associated-with-multiple-neuroendocrine-neoplasia-type-2a-a-case-report
#12
Boubacar Efared, Gabrielle Atsame-Ebang, Soufiane Tahirou, Khalid Mazaz, Nawal Hammas, Hinde El Fatemi, Laila Chbani
BACKGROUND: Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/paragangliomas such as multiple endocrine neoplasia type 2 (2A or B). To the best of our knowledge, only four cases of composite pheochromocytoma/paragangliomas associated with multiple endocrine neoplasia type 2 have been reported. CASE PRESENTATION: A 40-year-old Arabic woman presented with headache, palpitations, paroxysmal hypertension, and weight loss, which she had had for the last 3 years...
August 1, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28751508/between-fire-and-ice-refractory-hypothermia-and-warmth-induced-pain-in-inherited-erythromelalgia
#13
See Wan Tham, Li Li, Philip Effraim, Stephen Waxman
Inherited erythromelalgia (IEM) is a well-described pain disorder caused by mutations of sodium channel Nav1.7, a peripheral channel expressed within dorsal root ganglion and the sympathetic ganglion neurons. Clinically, IEM is characterised by paroxysmal attacks of severe pain, usually in the distal extremities, triggered by warmth or exercise. Pain is not adequately treated by existing pharmacological agents. Individuals with IEM classically cool their limbs for relief, in some cases resulting in tissue injury...
July 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28747835/non-epileptic-paroxysmal-events-in-childhood
#14
Burak Tatlı, Serhat Güler
Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history. Wrong diagnosis can give rise to anxiety of both the family and the child, interruptions in the child's education, limitations in career planning, and irreversible damages in the long term...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28739195/dizziness-symptom-type-prevalence-and-overlap-a-us-nationally-representative-survey
#15
Kevin A Kerber, Brian C Callaghan, Steven A Telian, William J Meurer, Lesli E Skolarus, Wendy Carender, James F Burke
BACKGROUND: The traditional approach to dizziness encourages providers to emphasize the type of dizziness. However, symptom types might substantially overlap in individual patients, thus limiting the clinical value of this approach. We aimed to describe the overlap of types of dizziness using a United States nationally representative sample. METHODS: The 2008 US National Health Interview Survey was examined for prevalence and overlap of types of dizziness. The data was also separately examined among people who otherwise had typical features of traditionally vertigo-based disorders (i...
July 21, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28723599/management-of-benign-paroxysmal-positional-vertigo-a-comparative-study-between-epleys-manouvre-and-betahistine
#16
Japneet Kaur, Karthik Shamanna
Benign paroxysmal positional vertigo (BPPV) is the most common peripheral vestibular disorder, accounting for 20% of all vertigo cases. Idiopathic BPPV is most common between the ages of 50 and 70, although the condition is found in all age groups. This study was conducted in our institute on 90 patients who presented to the outpatient department with history of vertigo and were diagnosed with BPPV via a positive Dix Hallpike test. Patients were randomnly placed in three groups of 30 each. Patients in Group A were treated with Epleys manoeuvre alone, in Group B were treated with Epleys Manouvre followed by oral Betahistine and patients in Group C were treated with Betahistine alone...
June 1, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28720085/my-child-cannot-breathe-while-sleeping-a-report-of-three-cases-and-review
#17
Won Hee Seo, Minkyu Park, So-Hee Eun, Seonkyeong Rhie, Dae Jin Song, Kyu-Young Chae
BACKGROUND: Sudden breath-holding episodes during sleep in young children are potentially related to sudden infant death syndrome and other life-threatening events. Additionally, these episodes can negatively affect child's growth and development. CASE PRESENTATION: Here, we present 3 cases of preschool children with similar paroxysmal nocturnal waking events associated with choking that had different etiologies (nocturnal frontal lobe epilepsy, nocturnal gastroesophageal reflux disease, and parasomnia, respectively)...
July 18, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28718265/haemoglobinuria-and-portal-venous-thrombosis-in-a-young-male
#18
Zain Ul Abideen, Munnam Sohail Jafar, Nasir Hameed, Ahmad Malik
Paroxysmal nocturnal haemoglobinuria is a non-malignant stem cell disorder due to acquired somatic mutations in cell surface anchored proteins CD55 and CD59. Both have a compliment inhibitory role and their deficiency leads to intravascular haemolysis. This paper reports a challenging case of a 25 years old male who presented with generalized weakness, exertional dyspnoea and episodic early morning haematuria. Recently, he started developing progressive abdominal distention and dull generalized abdominal pain...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28706744/management-of-oromandibular-dystonia-a-case-report-and-literature-update
#19
Suma Gn, Adrita Nag
Oromandibular dystonia (OMD) is a movement disorder characterized by involuntary, paroxysmal, and patterned muscle contractions of varying severity resulting in sustained spasms of masticatory muscles, affecting the jaws, tongue, face, and pharynx. It is most commonly idiopathic or medication-induced, but peripheral trauma sometimes precedes the condition. We present a case report of a 26-year-old female patient who suffered repetitive bouts of hemifacial muscle contractions for 2 years on closing the mouth which interfered in patient's well-being and quality of life by hampering her ability to eat and talk and to the extent of inability to breath due to contractions of her neck muscles...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28703446/paroxysmal-dyskinesia-in-border-terriers-clinical-epidemiological-and-genetic-investigations
#20
Q E M Stassen, L L E Koskinen, F G van Steenbeek, E H Seppälä, T S Jokinen, P G M Prins, H G J Bok, M M J M Zandvliet, M Vos-Loohuis, P A J Leegwater, H Lohi
BACKGROUND: In the last decade, a disorder characterized by episodes of involuntary movements and dystonia has been recognized in Border Terriers. OBJECTIVES: To define clinical features of paroxysmal dyskinesia (PD) in a large number of Border Terriers and to study the genetics of the disease. ANIMALS: 110 affected and 128 unaffected client-owned Border Terriers. METHODS: A questionnaire regarding clinical characteristics of PD was designed at Utrecht University and the University of Helsinki...
July 2017: Journal of Veterinary Internal Medicine
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